Variant report

Variant	rs62156232
Chromosome Location	chr2:97431161-97431162
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:97428068..97433025-chr2:97480948..97483596,5	MCF-7	breast:
2	chr2:97416546..97418397-chr2:97428525..97431292,3	MCF-7	breast:
3	chr2:97404913..97406799-chr2:97429904..97432129,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114988	Chromatin interaction
ENSG00000168763	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10203346	0.81[ASN][1000 genomes]
rs11889085	0.95[ASN][1000 genomes]
rs12172	0.83[ASN][1000 genomes]
rs1320146	0.83[ASN][1000 genomes]
rs13419073	0.83[ASN][1000 genomes]
rs17119562	0.84[AFR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17119564	0.89[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17119591	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17119598	0.83[ASN][1000 genomes]
rs2139406	0.94[EUR][1000 genomes]
rs2276654	0.83[ASN][1000 genomes]
rs2280356	0.96[EUR][1000 genomes]
rs2314399	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2872633	0.98[EUR][1000 genomes]
rs3731940	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3731941	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs56797569	1.00[ASN][1000 genomes]
rs56913233	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57582887	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58147284	0.83[ASN][1000 genomes]
rs59073958	0.90[EUR][1000 genomes]
rs59648446	0.86[EUR][1000 genomes]
rs61742095	0.84[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs61750875	0.88[EUR][1000 genomes]
rs62152765	1.00[ASN][1000 genomes]
rs62152766	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62152767	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62152768	1.00[ASN][1000 genomes]
rs62152770	1.00[ASN][1000 genomes]
rs62152771	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62152772	0.95[ASN][1000 genomes]
rs62152773	0.95[ASN][1000 genomes]
rs62152774	0.95[ASN][1000 genomes]
rs62152775	0.95[ASN][1000 genomes]
rs62152777	0.90[ASN][1000 genomes]
rs62152780	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62152783	0.90[ASN][1000 genomes]
rs62152784	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs62152785	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62152786	0.88[ASN][1000 genomes]
rs62152787	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62152788	0.81[ASN][1000 genomes]
rs62152790	0.83[ASN][1000 genomes]
rs62152793	0.83[ASN][1000 genomes]
rs62152794	0.83[ASN][1000 genomes]
rs62152834	0.83[ASN][1000 genomes]
rs62152860	0.81[ASN][1000 genomes]
rs62156206	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs62156207	0.94[EUR][1000 genomes]
rs62156208	0.84[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156209	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156210	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156211	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156212	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156213	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156216	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156219	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156220	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156221	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156222	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156223	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156225	1.00[ASN][1000 genomes]
rs62156226	1.00[ASN][1000 genomes]
rs62156227	1.00[ASN][1000 genomes]
rs62156228	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156229	0.85[ASN][1000 genomes]
rs62156230	1.00[ASN][1000 genomes]
rs62156231	1.00[ASN][1000 genomes]
rs62156233	1.00[ASN][1000 genomes]
rs62156234	1.00[ASN][1000 genomes]
rs6576981	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6576986	0.83[ASN][1000 genomes]
rs6576987	0.83[ASN][1000 genomes]
rs6751132	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6756482	0.90[ASN][1000 genomes]
rs6758151	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72809850	0.95[ASN][1000 genomes]
rs72811623	0.83[ASN][1000 genomes]
rs7568206	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580942	0.83[ASN][1000 genomes]
rs878064	0.98[ASN][1000 genomes]
rs9973492	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	esv3460902	chr2:97138421-97459342	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	esv3460903	chr2:97138421-97459342	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong 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 miRNA target site	61 gene(s)	inside rSNPs	diseases
10	nsv834307	chr2:97321447-97479266	Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription 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	61 gene(s)	inside rSNPs	diseases
12	nsv874681	chr2:97410949-97577343	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
13	nsv874682	chr2:97423626-97567389	Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97428000-97431200	Active TSS	GM12878-XiMat	blood
2	chr2:97428800-97431600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:97429400-97431200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:97429400-97431400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:97429800-97431400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr2:97430000-97431200	Enhancers	Fetal Brain Male	brain
7	chr2:97430000-97431400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr2:97430000-97431400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:97430000-97431400	Enhancers	Gastric	stomach
10	chr2:97430000-97431400	Enhancers	Pancreas	Pancrea
11	chr2:97430000-97432400	Enhancers	Primary T cells fromperipheralblood	blood
12	chr2:97430000-97433800	Weak transcription	Fetal Kidney	kidney
13	chr2:97430200-97431400	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr2:97430200-97431400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:97430200-97432200	Weak transcription	Primary T cells from cord blood	blood
16	chr2:97430200-97432400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:97430200-97433200	Active TSS	Rectal Smooth Muscle	rectum
18	chr2:97430200-97433600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:97430200-97434000	Weak transcription	Osteobl	bone
20	chr2:97430200-97436200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:97430200-97439800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:97430200-97440800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr2:97430200-97442400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr2:97430200-97462800	Weak transcription	Aorta	Aorta
25	chr2:97430400-97431200	Weak transcription	Brain Germinal Matrix	brain
26	chr2:97430400-97431200	Enhancers	Fetal Lung	lung
27	chr2:97430400-97431400	Enhancers	Brain Cingulate Gyrus	brain
28	chr2:97430400-97431400	Enhancers	Thymus	Thymus
29	chr2:97430400-97431600	Enhancers	Primary B cells from peripheral blood	blood
30	chr2:97430400-97432200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:97430400-97432200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr2:97430400-97432200	Weak transcription	Fetal Stomach	stomach
33	chr2:97430400-97432200	Enhancers	HepG2	liver
34	chr2:97430400-97432400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:97430400-97432600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:97430400-97432600	Weak transcription	Small Intestine	intestine
37	chr2:97430400-97432600	Enhancers	Dnd41	blood
38	chr2:97430400-97432800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr2:97430400-97433600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr2:97430400-97434000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:97430400-97434400	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr2:97430400-97435200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:97430400-97435400	Weak transcription	Brain Substantia Nigra	brain
44	chr2:97430400-97435400	Weak transcription	Colon Smooth Muscle	Colon
45	chr2:97430400-97435400	Weak transcription	Right Atrium	heart
46	chr2:97430400-97435400	Weak transcription	HSMM	muscle
47	chr2:97430400-97435400	Weak transcription	HSMMtube	muscle
48	chr2:97430400-97435600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:97430400-97435600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:97430400-97436000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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