Variant report

Variant	rs7783018
Chromosome Location	chr7:6286630-6286631
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6283506..6285010-chr7:6286517..6288357,2	K562	blood:
2	chr7:6286204..6288303-chr7:6297783..6299306,2	K562	blood:
3	chr7:6283396..6285199-chr7:6286094..6287914,2	MCF-7	breast:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10046499	1.00[JPT][hapmap]
rs10224504	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10225119	1.00[JPT][hapmap]
rs10227013	0.83[ASN][1000 genomes]
rs10240510	1.00[JPT][hapmap]
rs10241174	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10241580	1.00[ASN][1000 genomes]
rs10244640	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs10245186	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10247585	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10252947	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10253501	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10255662	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10255914	1.00[JPT][hapmap]
rs10257191	0.84[AMR][1000 genomes]
rs10261217	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10263878	0.83[ASN][1000 genomes]
rs10264140	0.82[AFR][1000 genomes]
rs10267982	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10268916	1.00[CHB][hapmap]
rs10274992	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10275021	1.00[JPT][hapmap]
rs10279137	1.00[JPT][hapmap]
rs10280585	1.00[JPT][hapmap]
rs11768047	1.00[JPT][hapmap]
rs11768749	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12667392	1.00[JPT][hapmap]
rs13437890	1.00[JPT][hapmap]
rs17136048	1.00[JPT][hapmap]
rs59180903	0.95[ASN][1000 genomes]
rs59568570	0.83[ASN][1000 genomes]
rs6463540	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6463541	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6463542	0.83[ASN][1000 genomes]
rs6463543	0.83[ASN][1000 genomes]
rs6463544	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6942528	0.86[AMR][1000 genomes]
rs6942707	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6944071	1.00[JPT][hapmap]
rs6944216	0.95[ASN][1000 genomes]
rs6946205	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6949823	1.00[JPT][hapmap]
rs6955065	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6960965	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6961095	0.83[ASN][1000 genomes]
rs6962767	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6969814	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6969863	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6976305	0.83[ASN][1000 genomes]
rs7777433	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7780269	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7784025	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7785078	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7791225	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7800777	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7807841	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7811702	0.83[ASN][1000 genomes]
rs958329	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6269200-6288000	Weak transcription	NHEK	skin
2	chr7:6274400-6289400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr7:6274400-6296000	Weak transcription	Primary B cells from cord blood	blood
4	chr7:6275000-6287400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr7:6275000-6288000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:6275000-6296000	Weak transcription	Fetal Intestine Small	intestine
7	chr7:6281200-6288200	Weak transcription	K562	blood
8	chr7:6281200-6296000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:6281400-6288000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:6282800-6287800	Weak transcription	HMEC	breast
11	chr7:6283000-6287400	Weak transcription	Lung	lung
12	chr7:6283000-6288000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:6283000-6288000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:6283200-6286800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:6283200-6288000	Weak transcription	Esophagus	oesophagus
16	chr7:6283600-6288000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:6284000-6286800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:6284400-6288000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:6284800-6287000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr7:6284800-6289000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr7:6285000-6287000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr7:6285000-6287000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr7:6285000-6287000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr7:6285000-6288000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:6285000-6289200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:6285000-6289200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr7:6285000-6291600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:6285200-6287600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:6285200-6289200	Enhancers	Osteobl	bone
30	chr7:6285400-6288000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:6285400-6288000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr7:6285600-6287200	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr7:6285600-6287400	Weak transcription	Right Ventricle	heart
34	chr7:6285600-6288000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr7:6285600-6288400	Weak transcription	Fetal Heart	heart
36	chr7:6285600-6290600	Weak transcription	Aorta	Aorta
37	chr7:6285800-6286800	Enhancers	Ovary	ovary
38	chr7:6285800-6287000	Enhancers	Adipose Nuclei	Adipose
39	chr7:6285800-6287000	Enhancers	HUVEC	blood vessel
40	chr7:6285800-6287200	Enhancers	NH-A	brain
41	chr7:6285800-6287600	Enhancers	Fetal Stomach	stomach
42	chr7:6285800-6288000	Enhancers	HSMM	muscle
43	chr7:6286000-6286800	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr7:6286000-6286800	Weak transcription	Fetal Muscle Leg	muscle
45	chr7:6286000-6287000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:6286000-6287000	Enhancers	Fetal Kidney	kidney
47	chr7:6286000-6287400	Weak transcription	Left Ventricle	heart
48	chr7:6286000-6287600	Enhancers	Fetal Lung	lung
49	chr7:6286000-6288000	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr7:6286000-6288000	Weak transcription	Placenta	Placenta

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