Variant report

Variant	rs10186134
Chromosome Location	chr2:100939501-100939502
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SUZ12	chr2:100937282-100939629	NT2-D1	testis:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:100939477-100939527	BJ	skin:	n/a
2	chr2:100939477-100939527	MCF-7	breast:	n/a
3	chr2:100939477-100939527	NH-A	brain:	n/a
4	chr2:100939477-100939527	SK-N-MC	brain:	n/a
5	chr2:100939477-100939527	MCF10A-Er-Src	breast:	n/a
6	chr2:100939477-100939527	HNPCEpiC	eye:	n/a
7	chr2:100939477-100939527	HL-60	blood:	n/a
8	chr2:100939477-100939527	Hepatocyte	liver:	n/a
9	chr2:100939477-100939527	U87	brain:	n/a
10	chr2:100939477-100939527	HMEC	breast:	n/a
11	chr2:100939477-100939527	H1-hESC	embryonic stem cell:	embryo
12	chr2:100939477-100939527	HRE	kidney:	n/a
13	chr2:100939477-100939527	HCPEpiC	choroid plexus:	n/a
14	chr2:100939477-100939527	AG04450	lung:	fetal
15	chr2:100939477-100939527	AG10803	skin:	n/a
16	chr2:100939477-100939527	GM12891	blood:	n/a
17	chr2:100939477-100939527	A549	lung:	n/a
18	chr2:100939477-100939527	HUVEC	blood vessel:	n/a
19	chr2:100939477-100939527	LNCaP	prostate:	n/a
20	chr2:100939477-100939527	PrEC	prostate:	n/a
21	chr2:100939477-100939527	GM12878	blood:	n/a
22	chr2:100939477-100939527	AG04449	skin:	fetal
23	chr2:100939477-100939527	HCM	heart:	n/a
24	chr2:100939477-100939527	HepG2	liver:	n/a
25	chr2:100939477-100939527	HCF	heart:	n/a
26	chr2:100939477-100939527	HPAEpiC	pulmonary alveolar:	n/a
27	chr2:100939477-100939527	HIPEpiC	eye:	n/a
28	chr2:100939477-100939527	T-47D	breast:	n/a
29	chr2:100939477-100939527	Caco-2	colon:	n/a
30	chr2:100939477-100939527	CMK	blood:	n/a
31	chr2:100939477-100939527	HEK293	kidney:	embryo
32	chr2:100939477-100939527	NT2-D1	testis:	n/a
33	chr2:100939477-100939527	GM06990	blood:	n/a
34	chr2:100939477-100939527	SKMC	muscle:	n/a
35	chr2:100939477-100939527	ECC-1	luminal epithelium:	n/a
36	chr2:100939477-100939527	IMR90	lung:	fetal
37	chr2:100939477-100939527	BE2_C	brain:	n/a
38	chr2:100939477-100939527	K562	blood:	n/a
39	chr2:100939477-100939527	SAEC	small airway:	n/a
40	chr2:100939477-100939527	SK-N-SH_RA	brain:	n/a
41	chr2:100939477-100939527	HRCEpiC	kidney:	n/a
42	chr2:100939477-100939527	ProgFib	skin:	n/a
43	chr2:100939477-100939527	AoSMC	blood vessel:	n/a
44	chr2:100939477-100939527	Jurkat	blood:	n/a
45	chr2:100939477-100939527	HAEpiC	amniotic membrane:	n/a
46	chr2:100939477-100939527	HEEpiC	esophagus:	n/a
47	chr2:100939477-100939527	AG09319	gingival:	n/a
48	chr2:100939477-100939527	NB4	blood:	n/a
49	chr2:100939477-100939527	SK-N-SH	brain:	n/a
50	chr2:100939477-100939527	AG09309	skin:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:100939441..100941644-chr2:100962482..100964041,2	K562	blood:
2	chr2:100104533..100107300-chr2:100936927..100940750,3	MCF-7	breast:
3	chr2:100924962..100929082-chr2:100936842..100940898,4	K562	blood:
4	chr2:100924962..100929454-chr2:100936842..100940898,4	K562	blood:
5	chr2:100937085..100941836-chr2:101033510..101036438,4	MCF-7	breast:

No data

Variant related genes	Relation type
LONRF2	TF binding region
LONRF2	CpG island
ENSG00000115526	Chromatin interaction
ENSG00000135945	Chromatin interaction
ENSG00000170500	Chromatin interaction

Extended variants
information (count: 161 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:152)

rs_ID	r²[population]
rs10048665	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10174145	0.90[EUR][1000 genomes]
rs10180423	0.84[EUR][1000 genomes]
rs10182399	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10183150	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10193204	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10194210	0.81[EUR][1000 genomes]
rs10195793	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10202326	0.89[EUR][1000 genomes]
rs1030901	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1030902	0.87[EUR][1000 genomes]
rs10460478	0.84[EUR][1000 genomes]
rs11123824	0.83[EUR][1000 genomes]
rs11123826	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11123827	0.87[EUR][1000 genomes]
rs1114595	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11674569	0.87[EUR][1000 genomes]
rs11674830	0.86[EUR][1000 genomes]
rs11675901	0.89[EUR][1000 genomes]
rs11678148	0.87[EUR][1000 genomes]
rs11678158	0.90[EUR][1000 genomes]
rs11680660	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11682557	0.88[EUR][1000 genomes]
rs11682748	0.82[EUR][1000 genomes]
rs11683088	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11683121	0.84[EUR][1000 genomes]
rs11684004	0.90[EUR][1000 genomes]
rs11684516	0.90[EUR][1000 genomes]
rs11685250	0.90[EUR][1000 genomes]
rs11685406	0.89[EUR][1000 genomes]
rs11686293	0.82[EUR][1000 genomes]
rs11686649	0.89[EUR][1000 genomes]
rs11686799	0.90[EUR][1000 genomes]
rs11686842	0.90[EUR][1000 genomes]
rs11686880	0.90[EUR][1000 genomes]
rs11687352	0.84[EUR][1000 genomes]
rs11687865	0.83[EUR][1000 genomes]
rs11688285	0.88[EUR][1000 genomes]
rs11689439	0.82[EUR][1000 genomes]
rs11691135	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11691684	0.86[EUR][1000 genomes]
rs11693044	0.82[EUR][1000 genomes]
rs11693424	0.82[EUR][1000 genomes]
rs11693471	0.88[EUR][1000 genomes]
rs11694642	0.90[EUR][1000 genomes]
rs11694700	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11892034	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11895772	0.82[EUR][1000 genomes]
rs12373827	0.91[EUR][1000 genomes]
rs12615466	0.82[EUR][1000 genomes]
rs12617779	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12618908	0.88[EUR][1000 genomes]
rs12621892	0.88[EUR][1000 genomes]
rs12622318	0.82[EUR][1000 genomes]
rs12712075	0.82[EUR][1000 genomes]
rs12989897	0.91[EUR][1000 genomes]
rs12990688	0.81[EUR][1000 genomes]
rs12991172	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12991577	0.88[EUR][1000 genomes]
rs12997725	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12999151	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12999779	0.83[EUR][1000 genomes]
rs13001423	0.82[EUR][1000 genomes]
rs13006224	0.81[EUR][1000 genomes]
rs13020451	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13021801	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13023534	0.81[EUR][1000 genomes]
rs13026570	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13031711	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13031906	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1437967	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1437969	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1530028	0.82[EUR][1000 genomes]
rs1530029	0.89[EUR][1000 genomes]
rs1530030	0.88[EUR][1000 genomes]
rs1530031	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1811415	0.87[EUR][1000 genomes]
rs1837143	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1866198	0.83[EUR][1000 genomes]
rs1946799	0.80[EUR][1000 genomes]
rs1967339	0.82[EUR][1000 genomes]
rs1967341	0.82[EUR][1000 genomes]
rs2099611	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2164847	0.90[EUR][1000 genomes]
rs2241809	0.88[EUR][1000 genomes]
rs2241810	0.88[EUR][1000 genomes]
rs2241811	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2309798	0.90[EUR][1000 genomes]
rs2309800	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2309852	0.88[EUR][1000 genomes]
rs3748930	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3828193	0.86[EUR][1000 genomes]
rs4149505	0.86[EUR][1000 genomes]
rs4149507	0.86[EUR][1000 genomes]
rs4149510	0.86[EUR][1000 genomes]
rs4149512	0.87[EUR][1000 genomes]
rs4149513	0.86[EUR][1000 genomes]
rs4149517	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4149518	0.88[EUR][1000 genomes]
rs4149523	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4264577	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4340543	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4378827	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4387816	0.88[EUR][1000 genomes]
rs4407265	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4477940	0.90[EUR][1000 genomes]
rs4635546	0.83[EUR][1000 genomes]
rs4640404	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4850927	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4850929	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4850930	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4850931	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4851288	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4851292	0.82[EUR][1000 genomes]
rs4851293	0.83[EUR][1000 genomes]
rs4851294	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4851297	0.87[EUR][1000 genomes]
rs4851298	0.89[EUR][1000 genomes]
rs4851302	0.87[EUR][1000 genomes]
rs4851303	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4851304	0.89[EUR][1000 genomes]
rs4851305	0.85[EUR][1000 genomes]
rs4851310	0.88[EUR][1000 genomes]
rs4851311	0.88[EUR][1000 genomes]
rs4851312	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4851313	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62148360	0.87[EUR][1000 genomes]
rs6542940	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6542942	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6542944	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6542947	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6716636	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6725052	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6731549	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6736311	0.89[EUR][1000 genomes]
rs6737217	0.87[EUR][1000 genomes]
rs6749018	0.93[EUR][1000 genomes]
rs6754176	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6757754	0.89[EUR][1000 genomes]
rs74177694	0.91[EUR][1000 genomes]
rs74177695	0.86[EUR][1000 genomes]
rs74177696	0.85[EUR][1000 genomes]
rs7425449	0.82[EUR][1000 genomes]
rs7425797	0.82[EUR][1000 genomes]
rs7585582	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7590388	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7597615	0.90[EUR][1000 genomes]
rs893416	0.88[EUR][1000 genomes]
rs920269	0.83[EUR][1000 genomes]
rs920270	0.83[EUR][1000 genomes]
rs930374	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9973536	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv834311	chr2:100816917-100990036	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	esv2753837	chr2:100928086-100955814	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv3323401	chr2:100935920-100940518	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv3359521	chr2:100937345-100939893	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv3501611	chr2:100937370-100939668	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	esv3501612	chr2:100937370-100939668	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100937800-100939600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:100937800-100939600	Active TSS	Fetal Brain Female	brain
3	chr2:100939000-100939600	Bivalent Enhancer	Primary B cells from cord blood	blood
4	chr2:100939400-100939600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:100939400-100939600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr2:100939400-100939600	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr2:100939400-100939800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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