Variant report

Variant	rs6965332
Chromosome Location	chr7:149462621-149462622
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	chr7:149459369..149463521-chr7:149463788..149469028,7	MCF-7	breast:
2	chr7:149459407..149462884-chr7:149469034..149471281,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000181444	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11977953	1.00[JPT][hapmap]
rs709065	1.00[GIH][hapmap]
rs73725594	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73725595	1.00[ASN][1000 genomes]
rs73725601	0.94[ASN][1000 genomes]
rs73725602	0.94[ASN][1000 genomes]
rs73727605	0.94[ASN][1000 genomes]
rs73727606	0.87[ASN][1000 genomes]
rs855660	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs855662	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs855663	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs855664	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs855756	1.00[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034350	chr7:149264094-149666356	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv539190	chr7:149264094-149666356	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1023901	chr7:149364044-149747442	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv539191	chr7:149364044-149747442	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS 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	40 gene(s)	inside rSNPs	diseases
5	nsv469576	chr7:149379626-149563233	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv1031581	chr7:149386249-149570178	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv539192	chr7:149386249-149570178	Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv465199	chr7:149398065-149462621	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv608979	chr7:149398065-149462621	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv831184	chr7:149424835-149600093	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	esv2758139	chr7:149441590-149956415	Strong transcription Active TSS Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
12	esv2759571	chr7:149441590-149956415	Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
13	nsv465200	chr7:149445585-149483373	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv608980	chr7:149445585-149483373	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	nsv608981	chr7:149446246-149513152	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	nsv608982	chr7:149450584-149483373	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
17	nsv465201	chr7:149450584-149485059	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
18	nsv608983	chr7:149450584-149485059	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
19	nsv465202	chr7:149450584-149499412	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
20	nsv608984	chr7:149450584-149499412	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
21	nsv465203	chr7:149456359-149483373	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
22	nsv608985	chr7:149456359-149483373	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
23	nsv889403	chr7:149456359-149509981	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
24	nsv517242	chr7:149456359-149536214	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
25	nsv465204	chr7:149458128-149485059	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
26	nsv608986	chr7:149458128-149485059	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
27	nsv889404	chr7:149458623-149500992	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
28	nsv889405	chr7:149458623-149500992	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
29	nsv889406	chr7:149458623-149522366	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
30	nsv889407	chr7:149458623-149536214	Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
31	nsv889408	chr7:149458623-149539138	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
32	nsv521861	chr7:149458623-149582906	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
33	nsv889409	chr7:149458623-149585379	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
34	esv1820919	chr7:149459787-149532882	Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
35	nsv889410	chr7:149460447-149500992	Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
36	esv3340872	chr7:149461044-149463892	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:149451200-149468400	Weak transcription	Right Atrium	heart
2	chr7:149452600-149463200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:149460000-149465000	Weak transcription	K562	blood
4	chr7:149460400-149463200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr7:149460400-149465400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr7:149460600-149463200	Weak transcription	Adipose Nuclei	Adipose
7	chr7:149460600-149468200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:149460800-149467600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr7:149460800-149467800	Strong transcription	Primary T cells from cord blood	blood
10	chr7:149461000-149463200	Enhancers	Esophagus	oesophagus
11	chr7:149461000-149464400	ZNF genes & repeats	Fetal Stomach	stomach
12	chr7:149461000-149467000	Strong transcription	Lung	lung
13	chr7:149461000-149467200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr7:149461000-149467800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr7:149461400-149462800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
16	chr7:149461400-149463200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
17	chr7:149461400-149463200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr7:149461400-149464200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
19	chr7:149461600-149462800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:149461600-149462800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:149461600-149463000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
22	chr7:149461600-149463200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
23	chr7:149461600-149463200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:149461600-149463200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:149461600-149463400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:149461600-149463600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
27	chr7:149461600-149463600	Bivalent Enhancer	Placenta	Placenta
28	chr7:149461600-149467600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:149461600-149467800	Weak transcription	Dnd41	blood
30	chr7:149461800-149462800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
31	chr7:149461800-149463000	Genic enhancers	Gastric	stomach
32	chr7:149461800-149463200	Enhancers	Fetal Heart	heart
33	chr7:149461800-149463400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
34	chr7:149461800-149464200	ZNF genes & repeats	Thymus	Thymus
35	chr7:149462000-149462800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
36	chr7:149462000-149463400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr7:149462000-149463400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
38	chr7:149462000-149463600	Bivalent Enhancer	Fetal Brain Male	brain
39	chr7:149462000-149467800	Weak transcription	Ovary	ovary
40	chr7:149462200-149463200	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:149462200-149463200	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr7:149462200-149463400	Bivalent Enhancer	Fetal Muscle Leg	muscle
43	chr7:149462200-149463600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
44	chr7:149462400-149462800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:149462400-149462800	Bivalent Enhancer	Brain Angular Gyrus	brain
46	chr7:149462400-149463000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
47	chr7:149462400-149463200	Bivalent Enhancer	Psoas Muscle	Psoas
48	chr7:149462400-149463200	Transcr. at gene 5' and 3'	Right Ventricle	heart
49	chr7:149462400-149463200	ZNF genes & repeats	Spleen	Spleen
50	chr7:149462400-149463400	Bivalent/Poised TSS	Fetal Brain Female	brain

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