Variant report

Variant	rs6971072
Chromosome Location	chr7:105127696-105127697
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:105123891..105126807-chr7:105127065..105130619,3	K562	blood:
2	chr7:105126422..105132557-chr7:105160120..105164281,5	MCF-7	breast:
3	chr7:105126748..105128626-chr7:105155718..105158086,2	K562	blood:
4	chr7:105127051..105129077-chr7:105161518..105164006,2	K562	blood:
5	chr7:105126837..105131294-chr7:105131811..105135446,3	K562	blood:

Variant related genes	Relation type
ENSG00000091127	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12538052	0.81[CHB][hapmap];0.89[CHD][hapmap]
rs3735368	1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.96[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4373450	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4585682	0.81[CHB][hapmap];0.89[CHD][hapmap]
rs55650695	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62486981	0.81[ASN][1000 genomes]
rs62486983	0.81[ASN][1000 genomes]
rs62486990	0.81[ASN][1000 genomes]
rs62486991	0.81[ASN][1000 genomes]
rs62486992	0.81[ASN][1000 genomes]
rs62486993	0.81[ASN][1000 genomes]
rs6958132	0.81[CHB][hapmap];0.95[EUR][1000 genomes]
rs6958252	0.81[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6960696	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6964788	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6965760	0.83[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs711435	0.90[CHB][hapmap];0.89[CHD][hapmap];0.81[ASN][1000 genomes]
rs73190117	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73190120	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7790660	0.81[ASN][1000 genomes]
rs7790913	0.81[ASN][1000 genomes]
rs7798871	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs818471	0.88[EUR][1000 genomes]
rs818479	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised 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	39 gene(s)	inside rSNPs	diseases
3	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv8196	chr7:104763559-105155978	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv34580	chr7:104763580-105153242	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv1028228	chr7:104807207-105182998	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer 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	39 gene(s)	inside rSNPs	diseases
7	nsv932138	chr7:104826194-105152816	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1015688	chr7:104849770-105182998	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
9	nsv1023767	chr7:104931143-105190662	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv539049	chr7:104931143-105190662	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv1022065	chr7:104997315-105190662	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
12	nsv888929	chr7:105012975-105163091	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
13	nsv888930	chr7:105012975-105170476	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
14	nsv888931	chr7:105012975-105173974	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
15	nsv888932	chr7:105012975-105179756	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
16	nsv888933	chr7:105012975-105193051	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
17	nsv1018975	chr7:105018374-105153618	Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
18	nsv539050	chr7:105018374-105153618	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
19	nsv1023564	chr7:105018484-105182998	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
20	nsv464668	chr7:105088693-105208492	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers 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	30 gene(s)	inside rSNPs	diseases
21	nsv608069	chr7:105088693-105208492	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
22	nsv888935	chr7:105110990-105193051	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
23	nsv888936	chr7:105119308-105193051	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105080000-105161200	Weak transcription	Pancreas	Pancrea
2	chr7:105088200-105142600	Weak transcription	Esophagus	oesophagus
3	chr7:105088200-105152800	Weak transcription	Gastric	stomach
4	chr7:105088400-105140400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr7:105089200-105142600	Weak transcription	Fetal Thymus	thymus
6	chr7:105089600-105145200	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr7:105089600-105145800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr7:105090000-105128200	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr7:105093600-105153000	Weak transcription	Small Intestine	intestine
10	chr7:105094800-105137200	Weak transcription	Fetal Kidney	kidney
11	chr7:105095000-105128200	Weak transcription	Primary B cells from cord blood	blood
12	chr7:105095200-105140600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr7:105095200-105142600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:105095600-105128400	Weak transcription	Brain Angular Gyrus	brain
15	chr7:105095600-105128400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr7:105096000-105141000	Weak transcription	Colonic Mucosa	Colon
17	chr7:105096200-105128200	Weak transcription	Brain Hippocampus Middle	brain
18	chr7:105096400-105128000	Weak transcription	Brain Substantia Nigra	brain
19	chr7:105096400-105145600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr7:105098200-105151200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr7:105098600-105128400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr7:105099400-105130800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr7:105099800-105153000	Weak transcription	Psoas Muscle	Psoas
24	chr7:105100000-105141800	Weak transcription	Placenta	Placenta
25	chr7:105102400-105128000	Weak transcription	Fetal Lung	lung
26	chr7:105102400-105134000	Weak transcription	Aorta	Aorta
27	chr7:105102400-105134000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr7:105102400-105140800	Weak transcription	Right Ventricle	heart
29	chr7:105105200-105128200	Weak transcription	Fetal Brain Male	brain
30	chr7:105111200-105128200	Weak transcription	HSMMtube	muscle
31	chr7:105114400-105140400	Weak transcription	Adipose Nuclei	Adipose
32	chr7:105116000-105128200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:105117000-105128400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:105117200-105127800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:105117200-105128600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:105117400-105131200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr7:105117400-105132400	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr7:105117800-105128600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr7:105118600-105128400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr7:105119600-105134000	Weak transcription	Brain Anterior Caudate	brain
41	chr7:105120000-105128000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr7:105121200-105129800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr7:105121800-105128400	Weak transcription	HMEC	breast
44	chr7:105122200-105128400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:105122600-105138800	Weak transcription	Primary T cells from cord blood	blood
46	chr7:105122800-105128200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:105122800-105141200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr7:105123000-105128000	Weak transcription	NH-A	brain
49	chr7:105123200-105128000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr7:105123200-105128200	Weak transcription	HSMM	muscle

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