Variant report

Variant	rs6968093
Chromosome Location	chr7:149544537-149544538
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:149541998..149544901-chr7:149565491..149567643,2	MCF-7	breast:
2	chr7:149534234..149537343-chr7:149542425..149544829,4	MCF-7	breast:
3	chr7:149543313..149544874-chr7:149550730..149553564,2	MCF-7	breast:
4	chr7:149543004..149545086-chr7:149546997..149549255,2	MCF-7	breast:
5	chr7:149543034..149545015-chr7:149568113..149570741,2	MCF-7	breast:
6	chr7:149543499..149545502-chr7:149558401..149560374,2	K562	blood:

Variant related genes	Relation type
ENSG00000106479	Chromatin interaction
ENSG00000171130	Chromatin interaction
ENSG00000273419	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2074699	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4725832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	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
9	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
10	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
11	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
12	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
13	nsv1029471	chr7:149496177-149810381	Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
14	nsv539193	chr7:149496177-149810381	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
15	nsv1033095	chr7:149508083-149781872	Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
16	nsv608987	chr7:149509981-149547703	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
17	nsv1029484	chr7:149539914-149599326	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS 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	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:149536400-149544800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:149536400-149544800	Weak transcription	Spleen	Spleen
3	chr7:149536400-149547000	Weak transcription	Esophagus	oesophagus
4	chr7:149536400-149556400	Weak transcription	Colonic Mucosa	Colon
5	chr7:149536600-149551600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:149536800-149544600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr7:149536800-149544800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:149536800-149544800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:149536800-149545000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr7:149536800-149545000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr7:149536800-149551400	Weak transcription	HSMMtube	muscle
12	chr7:149536800-149556400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr7:149537000-149544800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr7:149537000-149544800	Weak transcription	Fetal Intestine Small	intestine
15	chr7:149537000-149545000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:149537000-149545000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:149537000-149545000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr7:149537000-149545000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:149537000-149545400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:149537000-149551400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr7:149537000-149551400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr7:149537000-149551400	Weak transcription	Fetal Kidney	kidney
23	chr7:149537000-149551400	Weak transcription	Fetal Lung	lung
24	chr7:149537000-149551600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:149537000-149551600	Weak transcription	Gastric	stomach
26	chr7:149537000-149551600	Weak transcription	NHEK	skin
27	chr7:149537000-149551800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:149537000-149552000	Weak transcription	NHDF-Ad	bronchial
29	chr7:149537000-149556800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr7:149537200-149544800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr7:149537200-149545200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr7:149537200-149545400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr7:149537200-149551400	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr7:149537200-149551800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:149539800-149551200	Weak transcription	Fetal Heart	heart
36	chr7:149540000-149546400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr7:149540000-149551600	Weak transcription	Pancreas	Pancrea
38	chr7:149540000-149551800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:149540000-149569600	Weak transcription	Psoas Muscle	Psoas
40	chr7:149540800-149545600	Weak transcription	Fetal Brain Male	brain
41	chr7:149541200-149550800	Strong transcription	Fetal Muscle Leg	muscle
42	chr7:149541400-149545200	Strong transcription	Thymus	Thymus
43	chr7:149541400-149547600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr7:149541600-149550000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr7:149541800-149544800	Weak transcription	Osteobl	bone
46	chr7:149541800-149546000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:149541800-149546000	Strong transcription	Brain Hippocampus Middle	brain
48	chr7:149541800-149546400	Strong transcription	Brain Substantia Nigra	brain
49	chr7:149541800-149546800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr7:149541800-149550600	Strong transcription	Stomach Smooth Muscle	stomach

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