Variant report

Variant	rs17076691
Chromosome Location	chr6:147623579-147623580
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:147619344..147621259-chr6:147622624..147624192,2	K562	blood:
2	chr6:147622507..147624870-chr6:147626952..147629086,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10080610	0.90[AFR][1000 genomes]
rs1034245	0.82[ASW][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes]
rs17076672	0.88[YRI][hapmap];0.81[AFR][1000 genomes]
rs17076679	1.00[AFR][1000 genomes]
rs17076702	0.98[AFR][1000 genomes]
rs34181841	0.98[AFR][1000 genomes]
rs55691000	0.81[AFR][1000 genomes]
rs55758181	0.86[AFR][1000 genomes]
rs56837006	0.88[AFR][1000 genomes]
rs58570586	0.95[AFR][1000 genomes]
rs58756001	0.89[AFR][1000 genomes]
rs58831496	0.81[AFR][1000 genomes]
rs60225993	1.00[AFR][1000 genomes]
rs60412958	0.86[AFR][1000 genomes]
rs60969570	0.81[AFR][1000 genomes]
rs61078293	0.98[AFR][1000 genomes]
rs6921496	0.87[LWK][hapmap]
rs73787171	0.93[AFR][1000 genomes]
rs73787179	0.86[AFR][1000 genomes]
rs73788818	0.81[AFR][1000 genomes]
rs73788820	0.81[AFR][1000 genomes]
rs73788821	0.81[AFR][1000 genomes]
rs73788836	0.81[AFR][1000 genomes]
rs73788839	0.81[AFR][1000 genomes]
rs73788842	0.81[AFR][1000 genomes]
rs73788844	0.81[AFR][1000 genomes]
rs9322096	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes]
rs9322097	0.98[AFR][1000 genomes]
rs9322098	0.93[AFR][1000 genomes]
rs9485155	0.87[LWK][hapmap]
rs9485157	0.95[AFR][1000 genomes]
rs9485158	1.00[AFR][1000 genomes]
rs9485160	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9485161	1.00[AFR][1000 genomes]
rs9485163	1.00[AFR][1000 genomes]
rs9485164	0.90[AFR][1000 genomes]
rs9485168	0.98[AFR][1000 genomes]
rs9485169	0.98[AFR][1000 genomes]
rs9497727	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs9497733	0.91[AFR][1000 genomes]
rs9497735	0.91[AFR][1000 genomes]
rs9497737	1.00[AFR][1000 genomes]
rs9497739	1.00[AFR][1000 genomes]
rs9497742	1.00[AFR][1000 genomes]
rs9497744	1.00[AFR][1000 genomes]
rs9497745	0.98[AFR][1000 genomes]
rs9497746	0.95[AFR][1000 genomes]
rs9497749	0.95[AFR][1000 genomes]
rs9497750	0.95[AFR][1000 genomes]
rs9497755	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs9497756	0.98[AFR][1000 genomes]
rs9497758	0.90[AFR][1000 genomes]
rs9497760	0.98[AFR][1000 genomes]
rs9885707	1.00[AFR][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:97 , 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	chr6:147617600-147623600	Weak transcription	Fetal Intestine Small	intestine
16	chr6:147617600-147623600	Weak transcription	Left Ventricle	heart
17	chr6:147617600-147623800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:147617600-147623800	Weak transcription	Fetal Stomach	stomach
19	chr6:147617600-147623800	Weak transcription	Fetal Thymus	thymus
20	chr6:147617600-147624200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr6:147617600-147624200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr6:147617600-147624200	Weak transcription	Pancreas	Pancrea
23	chr6:147617600-147624400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:147617600-147624400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr6:147617600-147624400	Weak transcription	Esophagus	oesophagus
26	chr6:147617600-147624400	Weak transcription	Lung	lung
27	chr6:147617600-147624600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr6:147617600-147624600	Weak transcription	Placenta	Placenta
29	chr6:147617600-147627200	Weak transcription	Aorta	Aorta
30	chr6:147617600-147636800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr6:147617800-147624400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr6:147617800-147624800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr6:147617800-147627600	Weak transcription	Stomach Mucosa	stomach
34	chr6:147617800-147643000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr6:147618000-147625200	Weak transcription	Right Ventricle	heart
36	chr6:147618200-147624200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr6:147618400-147623800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr6:147618600-147623600	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr6:147618600-147624000	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr6:147618600-147624200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr6:147618600-147624200	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr6:147618600-147624400	Weak transcription	Thymus	Thymus
43	chr6:147618600-147635400	Weak transcription	NH-A	brain
44	chr6:147618600-147648400	Weak transcription	HSMMtube	muscle
45	chr6:147618600-147649000	Weak transcription	Fetal Kidney	kidney
46	chr6:147618800-147624200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr6:147618800-147624400	Weak transcription	Adipose Nuclei	Adipose
48	chr6:147618800-147625200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr6:147618800-147625600	Weak transcription	Brain Anterior Caudate	brain
50	chr6:147619000-147624200	Weak transcription	Duodenum Mucosa	Duodenum

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