Variant report

Variant	rs2073798
Chromosome Location	chr11:64511322-64511323
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:64511200-64511350	GM12864	blood:	n/a	chr11:64511203-64511219 chr11:64511202-64511220 chr11:64511205-64511218 chr11:64511205-64511218
2	CTCF	chr11:64511045-64511371	GM10248	blood:	n/a	chr11:64511203-64511219 chr11:64511202-64511220 chr11:64511205-64511218 chr11:64511205-64511218
3	RAD21	chr11:64511045-64511418	GM12878	blood:	n/a	chr11:64511205-64511217 chr11:64511203-64511222
4	SPI1	chr11:64510405-64511350	HL-60	blood:	n/a	n/a
5	RAD21	chr11:64510133-64512065	SK-N-SH	brain:	n/a	chr11:64511012-64511025 chr11:64510945-64510958 chr11:64511205-64511217 chr11:64511203-64511222 chr11:64512029-64512041
6	TEAD4	chr11:64510611-64511743	ECC-1	luminal epithelium:	n/a	n/a
7	MAZ	chr11:64509811-64513853	K562	blood:	n/a	chr11:64512748-64512757 chr11:64512445-64512454 chr11:64512631-64512641 chr11:64510447-64510457 chr11:64513619-64513629 chr11:64513719-64513729
8	POLR2A	chr11:64511016-64511967	K562	blood:	n/a	n/a
9	YY1	chr11:64511072-64511387	GM12892	blood:	n/a	n/a
10	CTCF	chr11:64511041-64511523	GM19240	blood:	n/a	chr11:64511203-64511219 chr11:64511202-64511220 chr11:64511205-64511218 chr11:64511205-64511218
11	YY1	chr11:64511053-64511357	GM12891	blood:	n/a	n/a
12	BCL3	chr11:64511109-64511713	A549	lung:	n/a	n/a
13	GTF2F1	chr11:64511116-64511328	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTBP2	chr11:64509270-64511435	H1-hESC	embryonic stem cell:	n/a	n/a
15	BHLHE40	chr11:64511121-64511761	K562	blood:	n/a	chr11:64511142-64511158
16	RAD21	chr11:64511124-64511334	HepG2	liver:	n/a	chr11:64511205-64511217 chr11:64511203-64511222
17	MAX	chr11:64511049-64512031	NB4	blood:	n/a	n/a
18	MYC	chr11:64511101-64511745	K562	blood:	n/a	n/a
19	CTCF	chr11:64511126-64511330	Kidney_OC	kidney:	n/a	chr11:64511203-64511219 chr11:64511202-64511220 chr11:64511205-64511218 chr11:64511205-64511218
20	CTCF	chr11:64511038-64511738	GM12892	blood:	n/a	chr11:64511203-64511219 chr11:64511202-64511220 chr11:64511205-64511218 chr11:64511205-64511218
21	FOXP2	chr11:64511120-64511742	PFSK-1	brain:	n/a	n/a
22	CTCF	chr11:64511008-64511391	K562	blood:	n/a	chr11:64511203-64511219 chr11:64511202-64511220 chr11:64511205-64511218 chr11:64511205-64511218
23	NR2F2	chr11:64510989-64511497	K562	blood:	n/a	n/a
24	MAX	chr11:64509884-64513844	K562	blood:	n/a	chr11:64512748-64512757 chr11:64512445-64512454 chr11:64512631-64512641 chr11:64510447-64510457 chr11:64513619-64513629 chr11:64513719-64513729
25	RAD21	chr11:64511031-64511353	SK-N-SH_RA	brain:	n/a	chr11:64511205-64511217 chr11:64511203-64511222
26	MYC	chr11:64510352-64511985	K562	blood:	n/a	chr11:64510447-64510457
27	TEAD4	chr11:64510709-64511352	K562	blood:	n/a	n/a
28	CTCF	chr11:64511089-64511356	Hela-S3	cervix:	n/a	chr11:64511203-64511219 chr11:64511202-64511220 chr11:64511205-64511218 chr11:64511205-64511218
29	CTCF	chr11:64510965-64511487	MCF-7	breast:	n/a	chr11:64511203-64511219 chr11:64511202-64511220 chr11:64511205-64511218 chr11:64511205-64511218
30	RAD21	chr11:64510984-64511610	HCT-116	colon:	n/a	chr11:64511012-64511025 chr11:64511205-64511217 chr11:64511203-64511222
31	RCOR1	chr11:64510394-64511568	GM12878	blood:	n/a	n/a
32	POLR2A	chr11:64511045-64513691	Raji	blood:	n/a	n/a
33	SMARCB1	chr11:64511035-64511439	K562	blood:	n/a	n/a
34	RAD21	chr11:64511068-64511396	IMR90	lung:	n/a	chr11:64511205-64511217 chr11:64511203-64511222
35	HDAC2	chr11:64511000-64511372	K562	blood:	n/a	n/a
36	CTCF	chr11:64511097-64511330	LNCaP	prostate:	n/a	chr11:64511203-64511219 chr11:64511202-64511220 chr11:64511205-64511218 chr11:64511205-64511218
37	RUNX3	chr11:64511084-64511887	GM12878	blood:	n/a	n/a
38	CTCF	chr11:64511023-64511364	HepG2	liver:	n/a	chr11:64511203-64511219 chr11:64511202-64511220 chr11:64511205-64511218 chr11:64511205-64511218
39	BHLHE40	chr11:64511125-64511741	GM12878	blood:	n/a	chr11:64511142-64511158
40	MAZ	chr11:64509820-64511530	IMR90	lung:	n/a	chr11:64510447-64510457
41	RAD21	chr11:64511048-64511352	K562	blood:	n/a	chr11:64511205-64511217 chr11:64511203-64511222
42	CTCF	chr11:64511040-64511342	H1-hESC	embryonic stem cell:	n/a	chr11:64511203-64511219 chr11:64511202-64511220 chr11:64511205-64511218 chr11:64511205-64511218
43	TBL1XR1	chr11:64511186-64511332	GM12878	blood:	n/a	n/a
44	SMC3	chr11:64510149-64511691	SK-N-SH	brain:	n/a	chr11:64510493-64510507
45	MTA3	chr11:64511069-64512036	GM12878	blood:	n/a	n/a
46	YY1	chr11:64511047-64511402	H1-hESC	embryonic stem cell:	n/a	n/a
47	EP300	chr11:64511149-64511355	GM12878	blood:	n/a	n/a
48	CTCF	chr11:64510846-64511548	K562	blood:	n/a	chr11:64511203-64511219 chr11:64510949-64510958 chr11:64511202-64511220 chr11:64511205-64511218 chr11:64510946-64510959 chr11:64511205-64511218
49	RAD21	chr11:64510951-64511507	H1-hESC	embryonic stem cell:	n/a	chr11:64511012-64511025 chr11:64511205-64511217 chr11:64511203-64511222
50	CTCF	chr11:64511056-64511366	A549	lung:	n/a	chr11:64511203-64511219 chr11:64511202-64511220 chr11:64511205-64511218 chr11:64511205-64511218

No.	Distal block	Cell Line	Cell type
1	chr11:64509047..64511433-chr11:64527648..64529214,2	MCF-7	breast:
2	chr11:64507790..64516181-chr11:64524582..64537783,30	K562	blood:
3	chr11:64510149..64512039-chr11:64538219..64540894,2	MCF-7	breast:
4	chr11:64510615..64511340-chr17:46047851..46048383,2	MCF-7	breast:
5	chr11:64503034..64505808-chr11:64508705..64511765,4	MCF-7	breast:
6	chr11:64510798..64511324-chr11:64535005..64535845,2	MCF-7	breast:
7	chr11:64506030..64508610-chr11:64510560..64513523,3	MCF-7	breast:
8	chr11:64489351..64492621-chr11:64507509..64512935,5	K562	blood:
9	chr11:64124497..64126994-chr11:64509396..64512374,2	K562	blood:
10	chr11:64509857..64513722-chr11:64571129..64574033,3	MCF-7	breast:
11	chr11:64509755..64511903-chr11:65684738..65686627,2	K562	blood:
12	chr11:64510354..64515027-chr11:64543156..64548358,11	K562	blood:
13	chr11:64489616..64492284-chr11:64509871..64511516,3	K562	blood:
14	chr11:64509463..64511820-chr11:64545145..64547148,2	MCF-7	breast:

Variant related genes	Relation type
RASGRP2	TF binding region
ENSG00000162302	Chromatin interaction
ENSG00000068976	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000110076	Chromatin interaction
ENSG00000269038	Chromatin interaction
ENSG00000108465	Chromatin interaction
ENSG00000133895	Chromatin interaction
ENSG00000068831	Chromatin interaction
ENSG00000175573	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10897524	0.86[CHB][hapmap];0.88[GIH][hapmap];0.81[JPT][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11231859	0.81[GIH][hapmap];0.90[JPT][hapmap];0.94[MEX][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes]
rs11231869	0.81[GIH][hapmap]
rs1207113	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1207181	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12223914	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1633462	0.81[CHB][hapmap];0.83[EUR][1000 genomes]
rs17146121	0.93[GIH][hapmap];0.89[MEX][hapmap]
rs2003293	0.88[EUR][1000 genomes]
rs2073797	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2230414	0.88[EUR][1000 genomes]
rs2267918	0.83[ASW][hapmap];0.81[GIH][hapmap];0.90[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2284301	0.95[CHB][hapmap];0.87[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2375335	0.86[EUR][1000 genomes]
rs2959652	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3741398	0.86[GIH][hapmap];0.83[MEX][hapmap]
rs3809076	0.81[GIH][hapmap];0.89[MEX][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs474707	0.85[CHB][hapmap];0.86[GIH][hapmap];0.89[MEX][hapmap];0.87[TSI][hapmap];0.85[EUR][1000 genomes]
rs476037	0.93[GIH][hapmap];0.89[MEX][hapmap]
rs477549	0.86[CHB][hapmap];0.81[CHD][hapmap];0.86[GIH][hapmap];0.89[MEX][hapmap];0.82[TSI][hapmap];0.86[EUR][1000 genomes]
rs483962	0.86[CHB][hapmap];0.86[GIH][hapmap];0.89[MEX][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes]
rs487105	0.81[CHB][hapmap];0.86[GIH][hapmap];0.83[MEX][hapmap];0.83[EUR][1000 genomes]
rs489192	0.90[CHB][hapmap];0.90[JPT][hapmap];0.89[MEX][hapmap];0.80[ASN][1000 genomes]
rs490980	0.85[JPT][hapmap];0.83[EUR][1000 genomes]
rs494128	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs496914	0.81[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs523200	0.86[CHB][hapmap];0.86[GIH][hapmap];0.94[MEX][hapmap];0.82[TSI][hapmap];0.85[EUR][1000 genomes]
rs532747	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.89[MEX][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs547066	1.00[CEU][hapmap];0.81[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs555974	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs569602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs580374	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58483071	0.88[EUR][1000 genomes]
rs589691	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs593394	0.83[EUR][1000 genomes]
rs606458	0.81[CHB][hapmap];0.86[GIH][hapmap];0.94[MEX][hapmap];0.82[TSI][hapmap]
rs620006	0.85[EUR][1000 genomes]
rs624975	0.81[GIH][hapmap]
rs625172	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs630966	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs633923	0.85[EUR][1000 genomes]
rs637332	0.86[CHB][hapmap];0.86[GIH][hapmap];0.89[MEX][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes]
rs667237	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs673224	0.80[EUR][1000 genomes]
rs674297	0.81[EUR][1000 genomes]
rs675254	1.00[CEU][hapmap]
rs677298	0.92[GIH][hapmap]
rs680273	0.86[CHB][hapmap];0.94[MEX][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs686171	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs693235	0.88[ASW][hapmap];0.81[GIH][hapmap];0.90[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes]
rs72643567	0.82[EUR][1000 genomes]
rs72643568	0.82[EUR][1000 genomes]
rs7938455	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7939965	0.93[GIH][hapmap];0.89[MEX][hapmap]

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	nsv468596	chr11:64334114-64527080	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv555195	chr11:64334114-64527080	Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv897694	chr11:64334114-64584959	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv818842	chr11:64345448-64546391	Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
6	nsv555196	chr11:64357072-64559898	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
7	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS 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	1075 gene(s)	inside rSNPs	diseases
8	nsv1051350	chr11:64372906-64533632	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv555198	chr11:64373899-64573589	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
10	esv1804443	chr11:64386453-64534785	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv897697	chr11:64447420-64584959	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
12	nsv897698	chr11:64447420-64621573	Active TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
13	nsv897699	chr11:64447420-64638041	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
14	nsv897700	chr11:64447420-64701030	Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1071 gene(s)	inside rSNPs	diseases
15	nsv555202	chr11:64477050-64573589	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
16	nsv468597	chr11:64477050-64584959	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
17	nsv468598	chr11:64477050-64584959	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
18	nsv555203	chr11:64477050-64584959	Strong transcription Genic enhancers Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
19	nsv1049744	chr11:64486615-64630149	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
20	nsv832189	chr11:64487183-64620199	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
21	nsv897701	chr11:64501991-64520569	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs2073798	PYGM	cis	cerebellum	SCAN
rs2073798	CABP2	cis	parietal	SCAN
rs2073798	PYGM	cis	parietal	SCAN
rs2073798	SF1	cis	multi-tissue	Pritchard
rs2073798	ACY3	cis	parietal	SCAN
rs2073798	POLA2	cis	cerebellum	SCAN
rs2073798	SF1	cis	lymphoblastoid	seeQTL
rs2073798	MALAT1	cis	parietal	SCAN
rs2073798	EHD1	cis	cerebellum	SCAN
rs2073798	B3GNT1	cis	cerebellum	SCAN
rs2073798	ANKRD13D	cis	parietal	SCAN
rs2073798	TMEM138	cis	cerebellum	SCAN
rs2073798	TMEM138	cis	parietal	SCAN
rs2073798	LRRN4CL	cis	cerebellum	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64508600-64513000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr11:64508800-64512000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr11:64509000-64511400	Active TSS	H9 Cell Line	embryonic stem cell
4	chr11:64509000-64512000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
5	chr11:64509200-64511800	Bivalent Enhancer	Fetal Brain Male	brain
6	chr11:64509200-64512000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr11:64509200-64512000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr11:64509200-64512600	Active TSS	Brain Anterior Caudate	brain
9	chr11:64509400-64511800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:64509400-64512000	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr11:64509400-64512000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
12	chr11:64509400-64512000	Flanking Active TSS	Right Ventricle	heart
13	chr11:64509400-64512000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr11:64509400-64512200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr11:64509400-64513600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr11:64509600-64511400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr11:64509600-64511400	Active TSS	Psoas Muscle	Psoas
18	chr11:64509600-64511600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:64509600-64511600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:64509600-64511800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:64509600-64512000	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr11:64509600-64512000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:64509600-64512000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
24	chr11:64509600-64512000	Flanking Active TSS	Spleen	Spleen
25	chr11:64509600-64512200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
26	chr11:64509600-64512400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:64509600-64512600	Enhancers	Fetal Heart	heart
28	chr11:64509600-64513600	Active TSS	Left Ventricle	heart
29	chr11:64509800-64511400	Active TSS	Small Intestine	intestine
30	chr11:64509800-64512000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr11:64509800-64513200	Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr11:64509800-64513600	Active TSS	Right Atrium	heart
33	chr11:64509800-64514000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
34	chr11:64510000-64511400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
35	chr11:64510000-64511400	Active TSS	Colon Smooth Muscle	Colon
36	chr11:64510000-64511600	Flanking Active TSS	Pancreas	Pancrea
37	chr11:64510000-64512000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
38	chr11:64510000-64512200	Flanking Active TSS	Thymus	Thymus
39	chr11:64510000-64513400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:64510000-64513400	Active TSS	Aorta	Aorta
41	chr11:64510000-64513600	Active TSS	Primary T cells from cord blood	blood
42	chr11:64510200-64511400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr11:64510200-64511400	Bivalent Enhancer	Fetal Lung	lung
44	chr11:64510200-64513400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:64510200-64513400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr11:64510400-64511800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr11:64510400-64511800	Bivalent Enhancer	NH-A	brain
48	chr11:64510400-64512000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
49	chr11:64510400-64512000	Bivalent Enhancer	HUVEC	blood vessel
50	chr11:64510400-64512800	Active TSS	Primary B cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links