Variant report

Variant	rs67615384
Chromosome Location	chr2:64133432-64133433
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10183479	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11558741	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11674020	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11676710	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11683408	0.88[ASN][1000 genomes]
rs11691987	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11693906	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11695421	0.88[ASN][1000 genomes]
rs12713498	0.96[ASN][1000 genomes]
rs12996866	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13018690	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13431781	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1440002	0.98[ASN][1000 genomes]
rs17562177	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17562423	0.90[ASN][1000 genomes]
rs17619753	0.88[ASN][1000 genomes]
rs193031	0.84[ASN][1000 genomes]
rs2302808	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2439183	0.88[ASN][1000 genomes]
rs2969395	0.92[ASN][1000 genomes]
rs329478	0.92[ASN][1000 genomes]
rs329488	0.84[ASN][1000 genomes]
rs34122334	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34765999	0.92[ASN][1000 genomes]
rs34777730	0.92[ASN][1000 genomes]
rs35002211	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35336851	0.87[ASN][1000 genomes]
rs35474183	0.85[ASN][1000 genomes]
rs35480874	0.92[ASN][1000 genomes]
rs35697586	0.92[ASN][1000 genomes]
rs35960986	0.82[ASN][1000 genomes]
rs36033991	0.98[ASN][1000 genomes]
rs36123537	0.90[ASN][1000 genomes]
rs4233930	0.91[ASN][1000 genomes]
rs4538187	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4671071	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56904032	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6546029	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6546030	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6546032	0.96[ASN][1000 genomes]
rs6546033	0.94[ASN][1000 genomes]
rs6546035	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66980330	0.96[ASN][1000 genomes]
rs6715992	0.80[AFR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67308158	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6731508	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6732746	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6755646	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67765474	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs68117986	0.88[ASN][1000 genomes]
rs72808243	0.96[ASN][1000 genomes]
rs72893103	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs74181291	0.83[ASN][1000 genomes]
rs7590399	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013375	chr2:63969820-64231550	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv521717	chr2:64104132-64186582	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64114000-64212000	Weak transcription	Small Intestine	intestine
2	chr2:64114200-64174800	Weak transcription	Right Ventricle	heart
3	chr2:64116800-64138600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:64118200-64153600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:64118400-64137800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:64119600-64139600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr2:64126000-64138000	Weak transcription	Brain Angular Gyrus	brain
8	chr2:64126200-64138800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:64127200-64138000	Weak transcription	HSMMtube	muscle
10	chr2:64127400-64138600	Weak transcription	Psoas Muscle	Psoas
11	chr2:64128200-64134000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:64129200-64138000	Weak transcription	Left Ventricle	heart
13	chr2:64129400-64133800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:64129600-64138200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr2:64129600-64138200	Weak transcription	NH-A	brain
16	chr2:64129600-64139000	Weak transcription	Spleen	Spleen
17	chr2:64129600-64153200	Weak transcription	Thymus	Thymus
18	chr2:64129600-64153600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:64129600-64153600	Weak transcription	Aorta	Aorta
20	chr2:64129600-64153600	Weak transcription	Pancreas	Pancrea
21	chr2:64129600-64154000	Weak transcription	Colonic Mucosa	Colon
22	chr2:64129600-64164000	Weak transcription	NHLF	lung
23	chr2:64129600-64201000	Weak transcription	Hela-S3	cervix
24	chr2:64129800-64134600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr2:64129800-64135200	Weak transcription	Osteobl	bone
26	chr2:64129800-64154200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:64130000-64138000	Weak transcription	Lung	lung
28	chr2:64130000-64153200	Weak transcription	Gastric	stomach
29	chr2:64130000-64153600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:64130000-64153800	Weak transcription	Esophagus	oesophagus
31	chr2:64130200-64134400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:64130200-64137800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr2:64130200-64138200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:64130200-64149200	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr2:64130200-64153200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:64130200-64153600	Weak transcription	Fetal Intestine Small	intestine
37	chr2:64130200-64153600	Weak transcription	Ovary	ovary
38	chr2:64130200-64153800	Weak transcription	Fetal Stomach	stomach
39	chr2:64130400-64137000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:64130400-64138400	Weak transcription	NHDF-Ad	bronchial
41	chr2:64130400-64138800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:64130400-64144400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:64130400-64155000	Strong transcription	HepG2	liver
44	chr2:64130400-64167600	Weak transcription	Fetal Heart	heart
45	chr2:64130400-64168400	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr2:64130400-64211200	Weak transcription	Fetal Brain Male	brain
47	chr2:64130600-64135200	Weak transcription	Stomach Smooth Muscle	stomach
48	chr2:64130600-64135800	Weak transcription	Brain Substantia Nigra	brain
49	chr2:64130600-64137800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr2:64130600-64138000	Weak transcription	HUVEC	blood vessel

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