Variant report

Variant	rs9653508
Chromosome Location	chr2:86422816-86422817
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:470)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:470 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr2:86421843-86423267	A549	lung:	n/a	n/a
2	JUND	chr2:86422205-86422882	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:86421910-86423440	Hela-S3	cervix:	n/a	n/a
4	MXI1	chr2:86421806-86423411	Hela-S3	cervix:	n/a	n/a
5	NFATC1	chr2:86422518-86422981	GM12878	blood:	n/a	n/a
6	ZMIZ1	chr2:86421855-86423199	K562	blood:	n/a	n/a
7	TAF1	chr2:86421965-86422893	H1-hESC	embryonic stem cell:	n/a	n/a
8	CREB1	chr2:86421829-86423038	GM12878	blood:	n/a	n/a
9	ELF1	chr2:86421903-86423043	A549	lung:	n/a	chr2:86422436-86422445 chr2:86422788-86422799
10	POLR2A	chr2:86421138-86423364	K562	blood:	n/a	n/a
11	MXI1	chr2:86421820-86423194	K562	blood:	n/a	n/a
12	POLR2A	chr2:86421837-86423362	HepG2	liver:	n/a	n/a
13	ELF1	chr2:86421854-86423017	MCF-7	breast:	n/a	chr2:86422436-86422445 chr2:86422788-86422799
14	FOXA2	chr2:86422743-86423217	A549	lung:	n/a	n/a
15	POLR2A	chr2:86421907-86423260	GM18951	blood:	n/a	n/a
16	MBD4	chr2:86421678-86423364	HepG2	liver:	n/a	n/a
17	USF1	chr2:86422445-86423371	A549	lung:	n/a	n/a
18	TAF1	chr2:86421825-86423171	ECC-1	luminal epithelium:	n/a	n/a
19	TAF1	chr2:86421821-86423078	H1-hESC	embryonic stem cell:	n/a	n/a
20	GABPA	chr2:86422448-86422888	K562	blood:	n/a	chr2:86422634-86422643 chr2:86422634-86422648 chr2:86422631-86422645 chr2:86422634-86422645
21	ARID3A	chr2:86421768-86423102	K562	blood:	n/a	n/a
22	TAF1	chr2:86421935-86422988	HepG2	liver:	n/a	n/a
23	REST	chr2:86422140-86422843	SK-N-SH	brain:	n/a	chr2:86422817-86422830
24	TAF1	chr2:86421963-86422886	HepG2	liver:	n/a	n/a
25	CHD2	chr2:86421633-86423250	K562	blood:	n/a	chr2:86422993-86423000
26	PAX5	chr2:86422034-86422846	GM12878	blood:	n/a	chr2:86422635-86422644
27	EP300	chr2:86421724-86423274	K562	blood:	n/a	chr2:86422251-86422267
28	FOS	chr2:86422627-86422868	MCF10A-Er-Src	breast:	n/a	n/a
29	ELF1	chr2:86422361-86422965	A549	lung:	n/a	chr2:86422436-86422445 chr2:86422788-86422799
30	YY1	chr2:86421926-86422964	GM12878	blood:	n/a	chr2:86422187-86422201 chr2:86422188-86422199
31	TEAD4	chr2:86421755-86423141	HepG2	liver:	n/a	n/a
32	USF2	chr2:86422375-86423154	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAFK	chr2:86422136-86422868	HepG2	liver:	n/a	n/a
34	USF1	chr2:86422509-86422957	A549	lung:	n/a	n/a
35	POLR2A	chr2:86421879-86423294	Hela-S3	cervix:	n/a	n/a
36	MYC	chr2:86422053-86423303	HepG2	liver:	n/a	chr2:86422853-86422862 chr2:86422854-86422861
37	POLR2A	chr2:86421548-86423174	K562	blood:	n/a	n/a
38	FOXM1	chr2:86421776-86423007	GM12878	blood:	n/a	n/a
39	TBP	chr2:86421863-86423004	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr2:86421780-86423416	U87	brain:	n/a	n/a
41	RUNX3	chr2:86421872-86422975	GM12878	blood:	n/a	n/a
42	POLR2A	chr2:86421887-86423362	GM18526	blood:	n/a	n/a
43	POLR2A	chr2:86421898-86423288	HepG2	liver:	n/a	n/a
44	POLR2A	chr2:86421190-86423360	K562	blood:	n/a	n/a
45	TCF12	chr2:86421622-86423467	A549	lung:	n/a	n/a
46	POLR2A	chr2:86421894-86423412	ECC-1	luminal epithelium:	n/a	n/a
47	PML	chr2:86422048-86423054	MCF-7	breast:	n/a	n/a
48	CEBPB	chr2:86421990-86423115	HepG2	liver:	n/a	n/a
49	POLR2A	chr2:86421786-86423358	Raji	blood:	n/a	n/a
50	PBX3	chr2:86421923-86423091	A549	lung:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:86332345..86334570-chr2:86419598..86423755,4	MCF-7	breast:
2	chr2:86422130..86423059-chr2:197035887..197036463,2	NB4	blood:
3	chr2:86421282..86424146-chr2:86666466..86669906,3	K562	blood:
4	chr2:86347535..86349884-chr2:86422293..86424196,2	MCF-7	breast:
5	chr2:86421987..86423753-chr2:86668406..86670239,2	K562	blood:
6	chr2:86359004..86362633-chr2:86421083..86423832,3	MCF-7	breast:
7	chr2:86329731..86334667-chr2:86420655..86424478,8	K562	blood:
8	chr2:86422281..86424225-chr4:1209194..1210696,2	K562	blood:
9	chr2:86421023..86423048-chr2:86667398..86669941,4	MCF-7	breast:
10	chr2:86422237..86423747-chr2:86562559..86564958,2	MCF-7	breast:
11	chr2:86385390..86388017-chr2:86422133..86423833,2	MCF-7	breast:
12	chr2:86398317..86400086-chr2:86422606..86424592,2	MCF-7	breast:
13	chr2:86420213..86424453-chr2:86424933..86430971,16	MCF-7	breast:
14	chr11:118888769..118889333-chr2:86422127..86422996,2	HCT-116	colon:
15	chr2:86330519..86334714-chr2:86420374..86424108,6	K562	blood:
16	chr2:86422002..86422864-chr8:104426815..104427420,2	NB4	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MRPL35-1	chr2:86422713-86423172	ENSG00000273080.1

No data

Variant related genes	Relation type
MRPL35	TF binding region
MIR4779	TF binding region
IMMT	TF binding region
ENSG00000132313	Chromatin interaction
ENSG00000132305	Chromatin interaction
ENSG00000068654	Chromatin interaction
ENSG00000115548	Chromatin interaction
ENSG00000132300	Chromatin interaction
ENSG00000164934	Chromatin interaction
ENSG00000159692	Chromatin interaction
ENSG00000118181	Chromatin interaction
ENSG00000196655	Chromatin interaction
ENSG00000068615	Chromatin interaction
ENSG00000200241	Chromatin interaction
ENSG00000081320	Chromatin interaction
ENSG00000164933	Chromatin interaction

Extended variants
information (count: 148 )
Associated
traits (count: 19 )

rSNPs within LD-proxies of this variant (count:127)

rs_ID	r²[population]
rs10175330	0.89[CEU][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10184462	0.80[EUR][1000 genomes]
rs10187150	0.85[CEU][hapmap]
rs10188059	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10195199	0.81[CEU][hapmap]
rs10200018	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10202995	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10208602	0.80[EUR][1000 genomes]
rs10496318	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs1057893	0.89[CEU][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10901	0.80[EUR][1000 genomes]
rs11127016	0.85[GIH][hapmap]
rs11395	0.85[CEU][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap]
rs11884038	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11885380	0.89[CEU][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11897696	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11899254	0.89[CEU][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11900161	0.89[ASW][hapmap];0.89[CEU][hapmap];0.87[GIH][hapmap]
rs12151585	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12328100	1.00[MEX][hapmap]
rs12465983	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12469363	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12469762	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs12475079	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs12475126	0.89[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12477274	0.89[CEU][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes]
rs12478097	0.89[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12478369	0.83[EUR][1000 genomes]
rs12714169	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12714170	0.82[EUR][1000 genomes]
rs12714171	0.89[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12714172	0.89[CEU][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12714173	0.80[EUR][1000 genomes]
rs12714174	0.81[EUR][1000 genomes]
rs12714175	0.82[CEU][hapmap];0.80[EUR][1000 genomes]
rs12714177	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs12994382	0.81[EUR][1000 genomes]
rs12996308	0.89[CEU][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12998025	0.84[AMR][1000 genomes]
rs12998164	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13000103	0.81[CEU][hapmap]
rs13001470	0.82[EUR][1000 genomes]
rs13010906	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13011139	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13011498	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13024123	0.92[CEU][hapmap]
rs13024884	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13027248	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs13035593	0.80[EUR][1000 genomes]
rs13403186	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1424520	0.83[ASW][hapmap]
rs1424522	0.84[CEU][hapmap]
rs17027013	0.88[CEU][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17551815	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17551822	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2241438	0.85[CEU][hapmap]
rs2278083	0.89[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2278536	0.89[CEU][hapmap]
rs2288113	0.89[CEU][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2288114	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2288115	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs2288121	0.82[ASW][hapmap]
rs2367203	0.89[CEU][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2367204	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs311579	0.81[GIH][hapmap]
rs35615768	0.82[EUR][1000 genomes]
rs3764949	0.85[GIH][hapmap]
rs3770060	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3770061	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3770062	0.89[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3770065	0.89[CEU][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3770067	0.89[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3821017	0.96[CEU][hapmap];0.98[GIH][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4374375	0.89[CEU][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4402761	0.89[CEU][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4422155	0.89[CEU][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4450596	0.89[CEU][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4544439	0.89[CEU][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4569473	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62150072	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62150074	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6547660	0.83[EUR][1000 genomes]
rs6547661	0.89[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6547662	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6547663	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6547665	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs6706204	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6707029	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6719136	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6725046	0.89[CEU][hapmap];0.93[GIH][hapmap];0.81[EUR][1000 genomes]
rs6725372	0.89[CEU][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6729732	0.89[CEU][hapmap];0.85[GIH][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6730226	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6731535	0.82[EUR][1000 genomes]
rs6731995	0.89[CEU][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6735014	0.92[CEU][hapmap]
rs6737950	0.88[CEU][hapmap]
rs6740044	0.92[CEU][hapmap]
rs6740287	0.83[EUR][1000 genomes]
rs6747474	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6749090	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6749439	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6757387	0.89[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6758173	0.85[GIH][hapmap]
rs715334	0.85[CEU][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap]
rs7422930	0.81[CEU][hapmap]
rs7560376	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs7561589	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7563742	0.82[CEU][hapmap];0.80[EUR][1000 genomes]
rs7566721	0.89[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7566961	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7567380	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7569853	0.81[EUR][1000 genomes]
rs7572386	0.92[CEU][hapmap]
rs7588325	0.89[CEU][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7590445	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs7608547	0.81[EUR][1000 genomes]
rs7609008	0.89[CEU][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8244	0.85[CEU][hapmap]
rs876242	0.85[CEU][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.81[AMR][1000 genomes]
rs9309632	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs9309633	0.89[CEU][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9646999	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9653569	0.85[CEU][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs965636	0.85[GIH][hapmap]
rs9917140	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9973320	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751903	chr2:86253542-86505453	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv531380	chr2:86253552-86469217	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv1007474	chr2:86281967-86505453	Enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv997563	chr2:86281967-86506132	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv1008924	chr2:86282722-86499402	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv999956	chr2:86285944-86505453	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv1012768	chr2:86285944-86506132	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv1003207	chr2:86286314-86496732	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv1000441	chr2:86286314-86508168	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
10	nsv535808	chr2:86286314-86508168	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	nsv1004442	chr2:86286480-86506132	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
12	nsv916616	chr2:86289130-86509326	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	nsv458563	chr2:86292341-86507688	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
14	nsv582370	chr2:86292341-86507688	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	nsv1009140	chr2:86294939-86506132	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
16	nsv582371	chr2:86296566-86507688	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
17	nsv531381	chr2:86301091-86478346	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
18	nsv1001157	chr2:86301440-86508168	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
19	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
20	nsv458574	chr2:86385728-86507688	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
21	nsv582372	chr2:86385728-86507688	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:19)

SNP	Gene	Cis/trans	Tissue	Source
rs9653508	IMMT	cis	Artery Tibial	GTEx
rs9653508	IMMT	cis	lymphoblastoid	seeQTL
rs9653508	MRPL35	cis	parietal	SCAN
rs9653508	REEP1	cis	parietal	SCAN
rs9653508	MRPL35	cis	uninvolved skin	skin_eQTL
rs9653508	C2orf51	cis	cerebellum	SCAN
rs9653508	MRPL35	cis	lymphoblastoid	seeQTL
rs9653508	IMMT	cis	parietal	SCAN
rs9653508	MRPL35	cis	cerebellum	SCAN
rs9653508	IMMT	cis	cerebellum	SCAN
rs9653508	ST3GAL5	cis	cerebellum	SCAN
rs9653508	IMMT	cis	lung	GTEx
rs9653508	IMMT	Cis_1M	lymphoblastoid	RTeQTL
rs9653508	IMMT	cis	Lymphoblastoid	GTEx
rs9653508	MRPL35	Cis_1M	lymphoblastoid	RTeQTL
rs9653508	IMMT	cis	multi-tissue	Pritchard
rs9653508	IMMT	cis	Nerve Tibial	GTEx
rs9653508	IMMT	cis	Esophagus Muscularis	GTEx
rs9653508	IMMT	cis	Whole Blood	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86421000-86423600	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr2:86421200-86423400	Active TSS	Aorta	Aorta
3	chr2:86421400-86423000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:86421400-86423000	Active TSS	GM12878-XiMat	blood
5	chr2:86421400-86423200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:86421400-86423200	Active TSS	Fetal Muscle Trunk	muscle
7	chr2:86421400-86423200	Active TSS	Left Ventricle	heart
8	chr2:86421400-86423400	Active TSS	H9 Cell Line	embryonic stem cell
9	chr2:86421400-86423400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:86421400-86423400	Active TSS	Right Ventricle	heart
11	chr2:86421400-86424000	Active TSS	K562	blood
12	chr2:86421600-86423000	Active TSS	Brain Angular Gyrus	brain
13	chr2:86421600-86423000	Active TSS	Colonic Mucosa	Colon
14	chr2:86421600-86423000	Active TSS	Thymus	Thymus
15	chr2:86421600-86423000	Active TSS	NHEK	skin
16	chr2:86421600-86423200	Active TSS	H1 Cell Line	embryonic stem cell
17	chr2:86421600-86423200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:86421600-86423200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:86421600-86423200	Active TSS	Ovary	ovary
20	chr2:86421600-86423200	Active TSS	Sigmoid Colon	Sigmoid Colon
21	chr2:86421600-86423400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:86421600-86423400	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr2:86421600-86423400	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr2:86421600-86423400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr2:86421600-86423400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:86421600-86423400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:86421600-86423400	Active TSS	Psoas Muscle	Psoas
28	chr2:86421600-86423400	Active TSS	NHDF-Ad	bronchial
29	chr2:86421600-86423600	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr2:86421600-86423600	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr2:86421600-86423600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:86421600-86423600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:86421600-86423600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:86421600-86423600	Active TSS	A549	lung
35	chr2:86421600-86423800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:86421600-86423800	Active TSS	HSMM	muscle
37	chr2:86421800-86423000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:86421800-86423000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:86421800-86423000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr2:86421800-86423000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr2:86421800-86423000	Active TSS	Muscle Satellite Cultured Cells	--
42	chr2:86421800-86423000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:86421800-86423000	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr2:86421800-86423000	Active TSS	Brain Substantia Nigra	brain
45	chr2:86421800-86423000	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr2:86421800-86423000	Active TSS	Esophagus	oesophagus
47	chr2:86421800-86423000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr2:86421800-86423000	Active TSS	Fetal Intestine Small	intestine
49	chr2:86421800-86423000	Active TSS	Lung	lung
50	chr2:86421800-86423000	Active TSS	Rectal Mucosa Donor 31	rectum

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