Variant report

Variant	rs4832312
Chromosome Location	chr2:86989962-86989963
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10186663	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10201422	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1049457	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1049458	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11547281	0.84[ASN][1000 genomes]
rs11889231	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1193	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12714203	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13029597	0.84[ASN][1000 genomes]
rs13297	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1850138	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1878109	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2138396	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2367378	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2367379	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2887012	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6706378	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6711696	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6711700	0.88[EUR][1000 genomes]
rs6726451	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6731890	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67535255	0.84[ASN][1000 genomes]
rs67856656	0.84[ASN][1000 genomes]
rs67864369	0.82[ASN][1000 genomes]
rs7561172	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7596943	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9309636	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9309637	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9309638	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs938486	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv10063	chr2:86940988-87084360	Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1002420	chr2:86948835-87172715	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv874472	chr2:86961252-87071474	Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1008817	chr2:86970406-87172715	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	esv14382	chr2:86972214-87174121	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv997982	chr2:86972834-87105864	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1007746	chr2:86972834-87172715	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv521780	chr2:86974318-86994719	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv458585	chr2:86974318-87108211	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv582373	chr2:86974318-87108211	Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv1007307	chr2:86974563-87055214	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
13	nsv535809	chr2:86974563-87055214	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
14	nsv1003748	chr2:86975514-87032318	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
15	nsv535810	chr2:86975514-87032318	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
16	nsv1004572	chr2:86975514-87082883	Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
17	nsv535811	chr2:86975514-87082883	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86968600-86993000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:86968600-86997600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:86969200-86997800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:86969400-86997800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:86969600-86995400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:86969600-86995400	Weak transcription	Esophagus	oesophagus
7	chr2:86970000-87002000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:86970400-86995400	Weak transcription	Aorta	Aorta
9	chr2:86971600-86993000	Weak transcription	Lung	lung
10	chr2:86972000-86993000	Weak transcription	Right Ventricle	heart
11	chr2:86972000-86993000	Weak transcription	Spleen	Spleen
12	chr2:86972000-86995400	Weak transcription	Pancreas	Pancrea
13	chr2:86974200-87004200	Weak transcription	Small Intestine	intestine
14	chr2:86974800-86999800	Weak transcription	Stomach Mucosa	stomach
15	chr2:86975200-86992600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr2:86975400-86993000	Weak transcription	Gastric	stomach
17	chr2:86975400-87003000	Weak transcription	Fetal Brain Male	brain
18	chr2:86975800-86999600	Weak transcription	NHLF	lung
19	chr2:86975800-87006600	Weak transcription	NH-A	brain
20	chr2:86977600-86997800	Weak transcription	HSMMtube	muscle
21	chr2:86977800-86995400	Weak transcription	Fetal Brain Female	brain
22	chr2:86978200-87003000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr2:86978800-86993000	Weak transcription	Colon Smooth Muscle	Colon
24	chr2:86979000-86991600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr2:86980400-86992600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr2:86980400-87001400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr2:86980600-87002800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr2:86981000-86992400	Weak transcription	NHEK	skin
29	chr2:86981000-86993000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:86981000-86997000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr2:86981200-86992800	Weak transcription	HMEC	breast
32	chr2:86981200-86993000	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr2:86981200-86997600	Weak transcription	HUVEC	blood vessel
34	chr2:86981400-86997000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr2:86981400-87004600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr2:86981600-87007000	Weak transcription	NHDF-Ad	bronchial
37	chr2:86981800-86991600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr2:86981800-86992800	Weak transcription	Placenta	Placenta
39	chr2:86981800-86995400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:86982000-86992400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:86982000-86999200	Weak transcription	Colonic Mucosa	Colon
42	chr2:86982000-87001000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:86982200-86997200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:86982400-86993000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr2:86982600-86992400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr2:86983000-86992600	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr2:86983200-86992400	Weak transcription	K562	blood
48	chr2:86983200-86993000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:86983400-86993000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr2:86983600-86992400	Weak transcription	Hela-S3	cervix

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