Variant report

Variant	rs11768749
Chromosome Location	chr7:6302721-6302722
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6297633..6303584-chr7:6308773..6313501,5	K562	blood:
2	chr7:6295146..6297854-chr7:6301609..6304566,2	MCF-7	breast:
3	chr7:6300982..6303712-chr7:6310025..6312320,4	MCF-7	breast:
4	chr7:6297786..6300256-chr7:6301628..6303560,2	K562	blood:
5	chr7:6302141..6304166-chr7:6305919..6307712,2	K562	blood:

Variant related genes	Relation type
ENSG00000008256	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10046499	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs10224504	1.00[JPT][hapmap]
rs10225119	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs10226743	0.83[CHD][hapmap]
rs10227013	1.00[ASN][1000 genomes]
rs10229323	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10235115	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10240510	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10241174	1.00[JPT][hapmap]
rs10241580	0.83[ASN][1000 genomes]
rs10244640	1.00[JPT][hapmap]
rs10245186	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10247585	1.00[JPT][hapmap]
rs10252947	1.00[JPT][hapmap]
rs10253501	1.00[JPT][hapmap]
rs10255598	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs10255662	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs10255914	1.00[JPT][hapmap]
rs10255947	1.00[EUR][1000 genomes]
rs10261217	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10263878	0.88[ASN][1000 genomes]
rs10267982	1.00[JPT][hapmap];0.88[MKK][hapmap];1.00[EUR][1000 genomes]
rs10271600	1.00[EUR][1000 genomes]
rs10275021	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap]
rs10279137	1.00[JPT][hapmap]
rs10280585	1.00[JPT][hapmap]
rs11760468	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11768047	1.00[JPT][hapmap]
rs12667392	1.00[JPT][hapmap]
rs13437890	1.00[JPT][hapmap]
rs17136048	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs34123833	1.00[EUR][1000 genomes]
rs34623646	0.93[ASN][1000 genomes]
rs58052451	0.93[ASN][1000 genomes]
rs59100979	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59180903	1.00[EUR][1000 genomes]
rs59568570	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6463540	1.00[JPT][hapmap]
rs6463541	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6463542	1.00[ASN][1000 genomes]
rs6463543	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6463544	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6942707	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs6944071	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs6944216	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6946205	0.83[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6949823	1.00[JPT][hapmap]
rs6955065	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6960965	1.00[JPT][hapmap]
rs6961095	0.88[ASN][1000 genomes]
rs6962767	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6969814	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6969863	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs6976305	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7777433	1.00[JPT][hapmap]
rs7780269	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7783018	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7784025	0.83[ASN][1000 genomes]
rs7791225	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7800777	1.00[JPT][hapmap]
rs7807841	1.00[JPT][hapmap]
rs7811702	1.00[ASN][1000 genomes]
rs958329	0.83[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs9986688	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
2	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
3	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
5	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer 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	127 gene(s)	inside rSNPs	diseases
6	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
7	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
8	nsv1021037	chr7:6070792-6426966	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv538713	chr7:6070792-6426966	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv530989	chr7:6176729-6438197	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv482829	chr7:6231809-6407606	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv1032987	chr7:6246313-6373054	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv538714	chr7:6246313-6373054	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
15	nsv497874	chr7:6296768-6614902	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6288200-6310400	Weak transcription	Brain Angular Gyrus	brain
2	chr7:6288400-6306600	Weak transcription	Esophagus	oesophagus
3	chr7:6293000-6306400	Weak transcription	NHEK	skin
4	chr7:6293400-6306600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:6294200-6303200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr7:6296600-6303600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:6296800-6308400	Weak transcription	HMEC	breast
8	chr7:6297600-6305400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:6298200-6306600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:6298400-6308600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr7:6299000-6310400	Weak transcription	Primary B cells from cord blood	blood
12	chr7:6299200-6310600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr7:6299600-6303400	Enhancers	Fetal Muscle Leg	muscle
14	chr7:6299800-6303400	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr7:6300000-6306800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:6300200-6308600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:6300200-6310200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr7:6300400-6303000	Weak transcription	Lung	lung
19	chr7:6300400-6306200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr7:6300400-6306200	Weak transcription	Gastric	stomach
21	chr7:6300400-6307600	Weak transcription	Pancreas	Pancrea
22	chr7:6300400-6308400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr7:6300400-6308600	Weak transcription	Aorta	Aorta
24	chr7:6300400-6310400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr7:6300600-6302800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr7:6300600-6303400	Enhancers	NHDF-Ad	bronchial
27	chr7:6300600-6304200	Weak transcription	Right Ventricle	heart
28	chr7:6300600-6304600	Weak transcription	GM12878-XiMat	blood
29	chr7:6300600-6306600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr7:6300600-6306800	Weak transcription	A549	lung
31	chr7:6300600-6308600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr7:6300600-6310200	Weak transcription	Fetal Kidney	kidney
33	chr7:6300600-6310400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr7:6300800-6306200	Weak transcription	Placenta	Placenta
35	chr7:6300800-6306600	Weak transcription	Fetal Intestine Small	intestine
36	chr7:6300800-6308600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr7:6301000-6303200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:6301000-6303200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr7:6301000-6303400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:6301000-6304000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr7:6301000-6308200	Weak transcription	Fetal Lung	lung
42	chr7:6301000-6309000	Weak transcription	Colon Smooth Muscle	Colon
43	chr7:6301200-6304600	Weak transcription	Ovary	ovary
44	chr7:6301200-6306200	Weak transcription	Right Atrium	heart
45	chr7:6301200-6308800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr7:6301200-6310400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr7:6301200-6310400	Weak transcription	Colonic Mucosa	Colon
48	chr7:6301600-6303200	Enhancers	Adipose Nuclei	Adipose
49	chr7:6301800-6303400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr7:6302000-6310200	Weak transcription	NH-A	brain

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