Variant report

Variant	rs6972739
Chromosome Location	chr7:149550942-149550943
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:149549543..149551998-chr7:149562107..149563696,2	MCF-7	breast:
2	chr7:149491656..149493796-chr7:149550496..149553442,2	MCF-7	breast:
3	chr7:149544639..149546472-chr7:149549112..149551336,3	K562	blood:
4	chr7:149545730..149549860-chr7:149550271..149553318,4	K562	blood:
5	chr7:149545238..149548475-chr7:149548724..149552652,5	MCF-7	breast:
6	chr7:149534468..149539239-chr7:149549126..149555518,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197558	Chromatin interaction
ENSG00000106479	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10239759	0.90[ASN][1000 genomes]
rs28715524	0.86[ASN][1000 genomes]
rs62621204	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7809988	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:31 , 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	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
17	esv2753117	chr7:149546703-149806076	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer 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
18	esv2757242	chr7:149546703-149906047	Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
19	nsv889413	chr7:149547703-149610781	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
20	nsv889414	chr7:149547703-149643233	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
21	nsv889415	chr7:149547703-149643233	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh 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
22	nsv889416	chr7:149547703-149656318	Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
23	nsv889417	chr7:149547703-149658257	Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
24	nsv889418	chr7:149547703-149658257	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
25	nsv889419	chr7:149547703-149671262	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS 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	26 gene(s)	inside rSNPs	diseases
26	nsv889420	chr7:149547703-149700526	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
27	nsv889421	chr7:149547703-149741002	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
28	nsv889422	chr7:149547703-149776603	Enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
29	nsv889423	chr7:149547703-149838371	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
30	nsv889424	chr7:149547703-149865912	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
31	nsv8229	chr7:149549787-149882563	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS 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	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:149536400-149556400	Weak transcription	Colonic Mucosa	Colon
2	chr7:149536600-149551600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:149536800-149551400	Weak transcription	HSMMtube	muscle
4	chr7:149536800-149556400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr7:149537000-149551400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr7:149537000-149551400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr7:149537000-149551400	Weak transcription	Fetal Kidney	kidney
8	chr7:149537000-149551400	Weak transcription	Fetal Lung	lung
9	chr7:149537000-149551600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:149537000-149551600	Weak transcription	Gastric	stomach
11	chr7:149537000-149551600	Weak transcription	NHEK	skin
12	chr7:149537000-149551800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:149537000-149552000	Weak transcription	NHDF-Ad	bronchial
14	chr7:149537000-149556800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr7:149537200-149551400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr7:149537200-149551800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:149539800-149551200	Weak transcription	Fetal Heart	heart
18	chr7:149540000-149551600	Weak transcription	Pancreas	Pancrea
19	chr7:149540000-149551800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:149540000-149569600	Weak transcription	Psoas Muscle	Psoas
21	chr7:149541800-149553400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:149542400-149551000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr7:149542400-149552200	Weak transcription	NHLF	lung
24	chr7:149542600-149561800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr7:149543000-149569600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:149543400-149552000	Weak transcription	Right Ventricle	heart
27	chr7:149544800-149554800	Weak transcription	Primary B cells from cord blood	blood
28	chr7:149545200-149552000	Weak transcription	Osteobl	bone
29	chr7:149545400-149551600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr7:149545400-149551800	Weak transcription	Spleen	Spleen
31	chr7:149545600-149551400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr7:149545600-149551600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr7:149545600-149551600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:149545600-149557400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr7:149545800-149551400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr7:149545800-149555600	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr7:149545800-149556400	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr7:149546000-149551600	Weak transcription	Fetal Brain Male	brain
39	chr7:149546200-149551400	Weak transcription	Fetal Intestine Large	intestine
40	chr7:149546200-149551800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:149546400-149551800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr7:149546400-149551800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr7:149546400-149551800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr7:149546400-149552000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:149546600-149551600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:149546600-149551600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr7:149546600-149552000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr7:149546600-149552000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:149547200-149551200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr7:149547400-149551200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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