Variant report

Variant	rs6748621
Chromosome Location	chr2:32262201-32262202
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:32262141..32263751-chr2:32277256..32278858,2	K562	blood:
2	chr2:32259751..32263598-chr2:32264571..32267430,3	K562	blood:
3	chr2:32233869..32239615-chr2:32259766..32267170,13	K562	blood:

Variant related genes	Relation type
ENSG00000162959	Chromatin interaction
ENSG00000271228	Chromatin interaction
ENSG00000162961	Chromatin interaction

Extended variants
information (count: 135 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:133)

rs_ID	r²[population]
rs10172468	0.80[JPT][hapmap]
rs10208246	0.90[CHB][hapmap];0.97[CHD][hapmap];0.86[JPT][hapmap]
rs10439444	0.91[CHB][hapmap];0.97[CHD][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs10490360	0.89[CEU][hapmap];0.91[CHB][hapmap];0.96[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11124274	0.89[ASW][hapmap];0.95[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11124275	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11124276	0.88[ASN][1000 genomes]
rs11124277	0.85[ASN][1000 genomes]
rs11676938	0.84[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs11678119	0.84[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.81[JPT][hapmap]
rs11681731	0.81[ASN][1000 genomes]
rs11683931	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11686061	0.86[ASN][1000 genomes]
rs11691879	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12465124	0.84[ASN][1000 genomes]
rs12465351	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs12474443	0.84[ASN][1000 genomes]
rs12611678	0.81[ASN][1000 genomes]
rs12614686	0.84[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.91[JPT][hapmap]
rs12617289	0.84[ASN][1000 genomes]
rs12617290	0.84[ASN][1000 genomes]
rs12618002	0.81[ASN][1000 genomes]
rs12620922	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1272585	0.85[CHB][hapmap];0.97[CHD][hapmap];0.86[JPT][hapmap];0.80[LWK][hapmap];0.82[ASN][1000 genomes]
rs12989936	1.00[ASW][hapmap];0.95[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.86[LWK][hapmap];0.91[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12992743	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12997026	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs13000753	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13007972	0.82[ASN][1000 genomes]
rs13008192	0.80[ASN][1000 genomes]
rs13017189	0.83[ASW][hapmap];0.89[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.87[TSI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13022197	0.89[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs13024004	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13029752	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13033833	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13427170	0.91[CHB][hapmap];0.95[CHD][hapmap];0.81[JPT][hapmap]
rs13431540	0.82[ASN][1000 genomes]
rs160797	0.81[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap]
rs160801	0.85[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap]
rs17767988	0.89[CEU][hapmap];0.91[CHB][hapmap];0.96[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1904489	0.83[ASN][1000 genomes]
rs212679	0.84[CEU][hapmap];0.82[JPT][hapmap]
rs212687	0.84[CHD][hapmap]
rs212699	0.84[CEU][hapmap]
rs212701	0.84[CEU][hapmap]
rs212703	0.82[CHB][hapmap];0.92[CHD][hapmap]
rs212715	0.84[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap]
rs212716	0.85[CHB][hapmap];0.95[CHD][hapmap];0.81[JPT][hapmap];0.87[TSI][hapmap]
rs212717	0.84[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.86[JPT][hapmap];0.87[TSI][hapmap]
rs212738	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs212739	0.89[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap]
rs212744	0.82[JPT][hapmap]
rs212745	0.89[CEU][hapmap];0.82[JPT][hapmap]
rs212746	0.89[CEU][hapmap];0.82[JPT][hapmap]
rs212748	0.82[JPT][hapmap]
rs212755	0.84[CHD][hapmap];0.81[JPT][hapmap]
rs212758	0.89[CEU][hapmap];0.82[GIH][hapmap]
rs212759	0.89[CEU][hapmap];0.82[GIH][hapmap]
rs212760	0.89[CEU][hapmap];0.82[JPT][hapmap]
rs212762	0.86[JPT][hapmap]
rs216538	0.91[ASN][1000 genomes]
rs216544	0.91[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs2235134	0.87[ASN][1000 genomes]
rs2280967	0.89[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.84[TSI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2280969	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2294179	0.81[ASN][1000 genomes]
rs2365555	0.89[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.91[TSI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2365558	0.84[ASN][1000 genomes]
rs2366736	0.91[CHB][hapmap];0.87[JPT][hapmap]
rs34856365	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35650265	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36014814	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3752916	0.84[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs3769602	0.84[CEU][hapmap];0.81[CHB][hapmap];0.85[CHD][hapmap];0.82[JPT][hapmap]
rs3769604	0.84[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.82[TSI][hapmap];0.88[ASN][1000 genomes]
rs3769606	0.84[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs3851310	0.89[CEU][hapmap]
rs430759	0.84[CEU][hapmap]
rs454119	0.86[ASN][1000 genomes]
rs467523	0.91[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs469305	0.81[ASN][1000 genomes]
rs4952209	0.91[CHB][hapmap];0.97[CHD][hapmap];0.86[JPT][hapmap]
rs4952248	0.94[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs4952249	0.81[ASN][1000 genomes]
rs4952250	0.89[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs4952252	0.91[CHB][hapmap];0.97[CHD][hapmap];0.86[JPT][hapmap]
rs55730514	0.82[ASN][1000 genomes]
rs56208031	0.81[ASN][1000 genomes]
rs56740303	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62142079	0.81[ASN][1000 genomes]
rs62142080	0.85[ASN][1000 genomes]
rs6543647	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs660393	0.85[ASN][1000 genomes]
rs67157050	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6716179	0.82[CHB][hapmap];0.85[CHD][hapmap];0.81[JPT][hapmap]
rs6717209	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs6723154	0.84[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.91[JPT][hapmap]
rs6725184	0.89[CEU][hapmap];0.80[CHB][hapmap];0.88[CHD][hapmap];0.83[JPT][hapmap]
rs6737500	0.89[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.82[LWK][hapmap];0.87[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6738349	0.86[ASN][1000 genomes]
rs6747488	0.92[ASN][1000 genomes]
rs6749336	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6752375	0.86[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs6758024	0.89[CEU][hapmap];0.90[CHB][hapmap];0.96[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6760105	0.89[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.84[TSI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6761417	0.81[ASN][1000 genomes]
rs678251	0.96[ASN][1000 genomes]
rs72862234	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7370704	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7559964	0.80[ASN][1000 genomes]
rs7561519	0.84[CEU][hapmap];0.86[CHB][hapmap];0.97[CHD][hapmap];0.91[JPT][hapmap];0.84[TSI][hapmap];0.92[ASN][1000 genomes]
rs7566162	0.84[CEU][hapmap];0.91[CHB][hapmap];0.96[JPT][hapmap];0.87[ASN][1000 genomes]
rs7572964	0.84[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs7573543	0.89[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs7575139	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7577408	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7577696	0.89[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.89[TSI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7581032	0.84[ASN][1000 genomes]
rs7581340	0.91[CHB][hapmap];0.97[CHD][hapmap];0.86[JPT][hapmap];0.87[TSI][hapmap];0.84[ASN][1000 genomes]
rs7581432	0.90[CHB][hapmap];0.95[CHD][hapmap];0.81[JPT][hapmap]
rs7586448	0.95[CEU][hapmap];0.91[CHB][hapmap];0.96[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7588883	0.85[CHB][hapmap];0.95[CHD][hapmap];0.81[JPT][hapmap]
rs7600173	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7600885	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7601267	0.83[ASW][hapmap];0.95[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.91[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7604559	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7605242	0.84[CEU][hapmap];0.91[CHB][hapmap];0.96[JPT][hapmap];0.87[ASN][1000 genomes]
rs7608127	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7608229	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9677104	0.81[ASN][1000 genomes]
rs9750659	0.82[ASN][1000 genomes]
rs9752631	0.85[ASN][1000 genomes]
rs9752651	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 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	chr2:32236400-32264200	Weak transcription	Gastric	stomach
2	chr2:32236600-32263200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:32236600-32263800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:32236600-32263800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:32236600-32263800	Weak transcription	Psoas Muscle	Psoas
6	chr2:32236600-32264200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:32236600-32264200	Weak transcription	Right Atrium	heart
8	chr2:32236600-32264200	Weak transcription	Right Ventricle	heart
9	chr2:32236800-32263000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr2:32236800-32263800	Weak transcription	Small Intestine	intestine
11	chr2:32236800-32264000	Weak transcription	Brain Angular Gyrus	brain
12	chr2:32236800-32264000	Weak transcription	Fetal Heart	heart
13	chr2:32236800-32264000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr2:32236800-32264000	Weak transcription	HSMMtube	muscle
15	chr2:32237000-32263600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr2:32237000-32263800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:32237000-32263800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr2:32237400-32264000	Weak transcription	GM12878-XiMat	blood
19	chr2:32244600-32263600	Weak transcription	NHEK	skin
20	chr2:32245600-32264200	Weak transcription	Aorta	Aorta
21	chr2:32246000-32263200	Weak transcription	Pancreas	Pancrea
22	chr2:32248600-32263800	Weak transcription	Brain Hippocampus Middle	brain
23	chr2:32248800-32264000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr2:32249200-32263400	Weak transcription	Fetal Brain Male	brain
25	chr2:32249200-32263800	Weak transcription	NHLF	lung
26	chr2:32249800-32263800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr2:32249800-32263800	Weak transcription	Colon Smooth Muscle	Colon
28	chr2:32249800-32264000	Weak transcription	NHDF-Ad	bronchial
29	chr2:32250400-32264000	Weak transcription	A549	lung
30	chr2:32251600-32264000	Weak transcription	Colonic Mucosa	Colon
31	chr2:32251800-32263800	Weak transcription	Left Ventricle	heart
32	chr2:32252200-32263800	Weak transcription	Spleen	Spleen
33	chr2:32254000-32263600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr2:32254000-32263800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr2:32254000-32263800	Weak transcription	HepG2	liver
36	chr2:32254000-32264000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr2:32254200-32263800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr2:32254200-32264000	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr2:32254400-32263800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr2:32254400-32263800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:32254400-32263800	Weak transcription	Esophagus	oesophagus
42	chr2:32254600-32264000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr2:32254800-32263800	Weak transcription	Liver	Liver
44	chr2:32254800-32263800	Weak transcription	Placenta	Placenta
45	chr2:32254800-32264200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr2:32255200-32263600	Strong transcription	Fetal Intestine Small	intestine
47	chr2:32255200-32263800	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr2:32255400-32263400	Strong transcription	Fetal Stomach	stomach
49	chr2:32255400-32263800	Weak transcription	HSMM	muscle
50	chr2:32255400-32263800	Weak transcription	HUVEC	blood vessel

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