Variant report

Variant	rs6735629
Chromosome Location	chr2:86120668-86120669
allele	A/G
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	EP300	chr2:86120467-86121655	A549	lung:	n/a	chr2:86121155-86121162 chr2:86120857-86120873
2	SP1	chr2:86120478-86121646	A549	lung:	n/a	n/a
3	FOSL2	chr2:86120489-86121644	A549	lung:	n/a	n/a
4	SIN3AK20	chr2:86120652-86121341	A549	lung:	n/a	n/a
5	BCL3	chr2:86120502-86121571	A549	lung:	n/a	n/a
6	TCF12	chr2:86120653-86121522	A549	lung:	n/a	n/a
7	NR3C1	chr2:86120668-86121442	A549	lung:	n/a	n/a
8	TCF12	chr2:86120384-86121751	A549	lung:	n/a	n/a
9	GATA3	chr2:86120415-86121743	A549	lung:	n/a	n/a
10	GATA3	chr2:86120575-86121484	A549	lung:	n/a	n/a
11	E2F6	chr2:86120609-86121209	A549	lung:	n/a	n/a
12	E2F6	chr2:86120452-86121464	A549	lung:	n/a	n/a
13	JUND	chr2:86120652-86121325	A549	lung:	n/a	n/a
14	SP1	chr2:86120559-86121770	A549	lung:	n/a	n/a
15	TEAD4	chr2:86120635-86121465	A549	lung:	n/a	n/a
16	REST	chr2:86120541-86121600	A549	lung:	n/a	n/a
17	MAX	chr2:86120543-86121570	A549	lung:	n/a	n/a
18	POLR2A	chr2:86118029-86121960	K562	blood:	n/a	n/a
19	CEBPB	chr2:86120593-86121625	A549	lung:	n/a	n/a
20	FOXA2	chr2:86120633-86121609	A549	lung:	n/a	chr2:86121131-86121143
21	TCF12	chr2:86120638-86121658	SK-N-SH	brain:	n/a	n/a
22	MAX	chr2:86120418-86121626	A549	lung:	n/a	n/a
23	POLR2A	chr2:86120638-86120821	A549	lung:	n/a	n/a
24	EP300	chr2:86120562-86121706	A549	lung:	n/a	chr2:86121155-86121162 chr2:86120857-86120873
25	FOXA2	chr2:86120638-86121494	A549	lung:	n/a	chr2:86121131-86121143

No.	Distal block	Cell Line	Cell type
1	chr2:86115047..86116757-chr2:86119715..86122326,2	MCF-7	breast:
2	chr2:86119682..86121677-chr2:86130359..86133618,3	MCF-7	breast:
3	chr2:86119817..86123713-chr2:86130856..86134451,3	K562	blood:
4	chr2:86115287..86117593-chr2:86119234..86121215,2	K562	blood:
5	chr2:86115287..86118043-chr2:86119453..86121215,2	K562	blood:

Variant related genes	Relation type
ST3GAL5	TF binding region
ENSG00000272564	Chromatin interaction
ENSG00000232504	Chromatin interaction
ENSG00000115525	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10496320	0.84[JPT][hapmap]
rs11127006	0.86[JPT][hapmap]
rs1135603	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12622987	0.84[JPT][hapmap]
rs13008291	0.93[ASN][1000 genomes]
rs13014421	0.86[JPT][hapmap]
rs1401384	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1518983	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1518991	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1543972	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17026675	0.84[JPT][hapmap]
rs17026750	0.91[CEU][hapmap]
rs1878898	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1878899	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1878904	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2577768	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2577769	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2577770	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2577771	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2577772	0.99[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2577774	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2577775	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2577777	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2577778	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2577779	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2577780	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2577786	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2679710	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2679711	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2679712	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2679713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2679714	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2679715	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2679716	0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2679717	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2679718	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2679719	0.99[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2679720	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2679721	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2679722	0.96[CEU][hapmap]
rs2679725	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28364794	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2918014	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2918015	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2918016	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2945823	0.87[EUR][1000 genomes]
rs2945825	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2945826	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35153287	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3810821	0.84[JPT][hapmap]
rs4832016	0.86[CEU][hapmap];0.83[CHB][hapmap];0.86[JPT][hapmap]
rs4832210	0.86[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap]
rs4832216	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4832217	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4832218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62150576	0.94[ASN][1000 genomes]
rs6547636	0.89[CEU][hapmap];0.88[CHB][hapmap];0.84[JPT][hapmap]
rs6720161	0.89[CEU][hapmap];0.88[CHB][hapmap];0.84[JPT][hapmap]
rs6734115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6747179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6747294	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6750686	0.84[CEU][hapmap]
rs7572209	0.86[JPT][hapmap]
rs7593080	0.80[EUR][1000 genomes]
rs764471	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs954176	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs959313	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86116800-86120800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:86117400-86126400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:86118000-86120800	Weak transcription	Right Atrium	heart
4	chr2:86118000-86120800	Weak transcription	Right Ventricle	heart
5	chr2:86118000-86121600	Enhancers	Fetal Muscle Leg	muscle
6	chr2:86118200-86120800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:86118200-86120800	Weak transcription	Spleen	Spleen
8	chr2:86118200-86121000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:86118200-86122200	Weak transcription	Primary B cells from cord blood	blood
10	chr2:86118200-86126000	Weak transcription	Primary T cells from cord blood	blood
11	chr2:86118200-86126800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr2:86118400-86120800	Weak transcription	Placenta	Placenta
13	chr2:86118400-86120800	Weak transcription	K562	blood
14	chr2:86118400-86126600	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr2:86118400-86127600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr2:86118600-86131000	Weak transcription	Thymus	Thymus
17	chr2:86118800-86121600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:86118800-86122400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:86119200-86121600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr2:86119200-86122000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:86119400-86120800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:86119400-86120800	Enhancers	Primary B cells from peripheral blood	blood
23	chr2:86119400-86120800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:86119400-86121000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:86119400-86121200	Enhancers	Primary T cells fromperipheralblood	blood
26	chr2:86119400-86121200	Enhancers	Fetal Lung	lung
27	chr2:86119400-86121200	Enhancers	Fetal Thymus	thymus
28	chr2:86119400-86121600	Enhancers	Dnd41	blood
29	chr2:86119400-86122000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:86119400-86122200	Enhancers	HMEC	breast
31	chr2:86119600-86121600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:86119600-86121600	Enhancers	Adipose Nuclei	Adipose
33	chr2:86119600-86121800	Enhancers	HSMM	muscle
34	chr2:86119600-86122000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:86119600-86122000	Flanking Active TSS	A549	lung
36	chr2:86119800-86120800	Enhancers	Brain Angular Gyrus	brain
37	chr2:86119800-86121400	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr2:86119800-86121800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:86119800-86121800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:86119800-86122000	Enhancers	Osteobl	bone
41	chr2:86119800-86132200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr2:86120000-86121000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr2:86120000-86126600	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr2:86120200-86120800	Enhancers	Muscle Satellite Cultured Cells	--
45	chr2:86120200-86122000	Enhancers	NHDF-Ad	bronchial
46	chr2:86120200-86134200	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr2:86120400-86120800	Enhancers	NH-A	brain
48	chr2:86120400-86121000	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr2:86120400-86121000	Enhancers	Left Ventricle	heart
50	chr2:86120400-86121000	Enhancers	Ovary	ovary

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