Variant report

Variant	rs7748995
Chromosome Location	chr6:147622572-147622573
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:147614299..147616581-chr6:147618756..147622866,3	K562	blood:
2	chr6:147622507..147624870-chr6:147626952..147629086,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1039083	0.98[EUR][1000 genomes]
rs1039084	0.81[EUR][1000 genomes]
rs1039085	0.98[EUR][1000 genomes]
rs1039086	0.80[EUR][1000 genomes]
rs1147844	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1147845	0.95[EUR][1000 genomes]
rs1147846	0.81[EUR][1000 genomes]
rs1147847	0.82[EUR][1000 genomes]
rs12527235	0.80[EUR][1000 genomes]
rs1496031	1.00[CEU][hapmap];0.95[TSI][hapmap]
rs1496033	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1496034	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1660687	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1765028	0.83[GIH][hapmap];0.81[TSI][hapmap]
rs1992389	0.82[EUR][1000 genomes]
rs2047286	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2068111	0.98[EUR][1000 genomes]
rs2119490	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2218221	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2582925	0.96[EUR][1000 genomes]
rs2582929	0.82[EUR][1000 genomes]
rs2786183	0.82[EUR][1000 genomes]
rs2786184	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2786185	0.81[EUR][1000 genomes]
rs2850177	0.97[EUR][1000 genomes]
rs2850178	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs474990	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs486867	0.96[EUR][1000 genomes]
rs4896904	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs4896905	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4896906	0.88[EUR][1000 genomes]
rs4896908	0.85[EUR][1000 genomes]
rs533201	1.00[CEU][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs577877	0.93[EUR][1000 genomes]
rs582437	0.86[CHB][hapmap]
rs584456	0.81[EUR][1000 genomes]
rs588273	0.94[EUR][1000 genomes]
rs597631	0.82[CEU][hapmap]
rs598038	0.98[EUR][1000 genomes]
rs608147	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs614476	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs617975	0.96[EUR][1000 genomes]
rs619175	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62435630	0.82[EUR][1000 genomes]
rs657155	0.90[ASN][1000 genomes]
rs659399	0.81[EUR][1000 genomes]
rs664203	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs6928919	0.81[EUR][1000 genomes]
rs7762087	0.82[EUR][1000 genomes]
rs9373523	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9377048	0.82[EUR][1000 genomes]
rs9390458	0.84[CEU][hapmap];0.83[GIH][hapmap];0.82[TSI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9390462	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9399598	1.00[CEU][hapmap];0.98[TSI][hapmap];0.97[EUR][1000 genomes]
rs9403852	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9497759	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs995697	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886752	chr6:147443480-147729477	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats 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 target site	21 gene(s)	inside rSNPs	diseases
2	nsv886753	chr6:147526508-147680291	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv470864	chr6:147539165-147709179	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv886754	chr6:147539165-147729477	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv604840	chr6:147539165-147730324	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	esv1832155	chr6:147554900-147715464	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv886755	chr6:147577646-147729477	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv886756	chr6:147580697-147729477	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv830839	chr6:147584914-147757264	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
10	nsv522406	chr6:147591022-147635413	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv886757	chr6:147591022-147729477	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147584400-147684600	Weak transcription	Brain Angular Gyrus	brain
2	chr6:147601600-147625200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:147607400-147707400	Weak transcription	Colon Smooth Muscle	Colon
4	chr6:147609800-147667000	Weak transcription	NHEK	skin
5	chr6:147610200-147624600	Weak transcription	Brain Substantia Nigra	brain
6	chr6:147610200-147624600	Weak transcription	HMEC	breast
7	chr6:147610200-147700200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr6:147611600-147636200	Weak transcription	HUVEC	blood vessel
9	chr6:147616400-147624800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:147617200-147624800	Weak transcription	Gastric	stomach
11	chr6:147617400-147624400	Weak transcription	Brain Hippocampus Middle	brain
12	chr6:147617400-147624800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr6:147617400-147643200	Weak transcription	Colonic Mucosa	Colon
14	chr6:147617400-147680200	Weak transcription	Small Intestine	intestine
15	chr6:147617600-147623000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr6:147617600-147623400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr6:147617600-147623600	Weak transcription	Fetal Intestine Small	intestine
18	chr6:147617600-147623600	Weak transcription	Left Ventricle	heart
19	chr6:147617600-147623800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:147617600-147623800	Weak transcription	Fetal Stomach	stomach
21	chr6:147617600-147623800	Weak transcription	Fetal Thymus	thymus
22	chr6:147617600-147624200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr6:147617600-147624200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr6:147617600-147624200	Weak transcription	Pancreas	Pancrea
25	chr6:147617600-147624400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:147617600-147624400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr6:147617600-147624400	Weak transcription	Esophagus	oesophagus
28	chr6:147617600-147624400	Weak transcription	Lung	lung
29	chr6:147617600-147624600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr6:147617600-147624600	Weak transcription	Placenta	Placenta
31	chr6:147617600-147627200	Weak transcription	Aorta	Aorta
32	chr6:147617600-147636800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr6:147617800-147624400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr6:147617800-147624800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr6:147617800-147627600	Weak transcription	Stomach Mucosa	stomach
36	chr6:147617800-147643000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr6:147618000-147625200	Weak transcription	Right Ventricle	heart
38	chr6:147618200-147624200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr6:147618400-147623800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr6:147618600-147623600	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr6:147618600-147624000	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr6:147618600-147624200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr6:147618600-147624200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr6:147618600-147624400	Weak transcription	Thymus	Thymus
45	chr6:147618600-147635400	Weak transcription	NH-A	brain
46	chr6:147618600-147648400	Weak transcription	HSMMtube	muscle
47	chr6:147618600-147649000	Weak transcription	Fetal Kidney	kidney
48	chr6:147618800-147624200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr6:147618800-147624400	Weak transcription	Adipose Nuclei	Adipose
50	chr6:147618800-147625200	Weak transcription	Brain Cingulate Gyrus	brain

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