Variant report

Variant	rs439124
Chromosome Location	chr7:101626768-101626769
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:101625094..101626938-chr7:101639657..101641295,2	MCF-7	breast:
2	chr7:101456365..101464966-chr7:101609986..101627610,39	MCF-7	breast:
3	chr7:101619477..101622792-chr7:101626038..101627957,3	MCF-7	breast:
4	chr7:101616193..101620421-chr7:101625647..101631766,10	MCF-7	breast:
5	chr7:101619566..101621139-chr7:101625025..101626768,2	K562	blood:

Variant related genes	Relation type
ENSG00000257923	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2970477	0.81[JPT][hapmap]
rs2970478	0.84[JPT][hapmap]
rs385854	0.80[JPT][hapmap]
rs404284	0.81[JPT][hapmap]
rs434564	0.86[JPT][hapmap]
rs740302	0.86[JPT][hapmap]
rs876826	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024319	chr7:101368299-101668159	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv539047	chr7:101368299-101668159	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1020372	chr7:101420819-101718950	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv482846	chr7:101539981-101707666	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv888827	chr7:101562674-101650302	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv482521	chr7:101604002-101718950	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101578200-101671200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:101591400-101628200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:101592400-101629200	Weak transcription	Aorta	Aorta
4	chr7:101597000-101642000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:101598200-101631600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:101604800-101629600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:101606800-101628400	Weak transcription	Colon Smooth Muscle	Colon
8	chr7:101608800-101627800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr7:101614200-101628600	Weak transcription	Colonic Mucosa	Colon
10	chr7:101614400-101646400	Weak transcription	Fetal Brain Female	brain
11	chr7:101616000-101627800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:101616400-101633000	Weak transcription	Gastric	stomach
13	chr7:101616600-101627800	Weak transcription	Primary T cells from cord blood	blood
14	chr7:101616600-101628600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr7:101616600-101630200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr7:101616800-101628600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr7:101617000-101634000	Weak transcription	Liver	Liver
18	chr7:101619600-101630800	Weak transcription	HepG2	liver
19	chr7:101620200-101642000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr7:101621800-101627800	Weak transcription	Esophagus	oesophagus
21	chr7:101621800-101628600	Weak transcription	Fetal Brain Male	brain
22	chr7:101622000-101628600	Weak transcription	Right Ventricle	heart
23	chr7:101622200-101627800	Weak transcription	Right Atrium	heart
24	chr7:101622200-101635600	Weak transcription	Pancreas	Pancrea
25	chr7:101622400-101628400	Weak transcription	Fetal Heart	heart
26	chr7:101622400-101628600	Weak transcription	Lung	lung
27	chr7:101623000-101631800	Weak transcription	Fetal Intestine Large	intestine
28	chr7:101623600-101628000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr7:101623600-101630200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr7:101624200-101627800	Weak transcription	Left Ventricle	heart
31	chr7:101624200-101628400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr7:101624200-101628600	Weak transcription	Fetal Stomach	stomach
33	chr7:101624400-101627200	Enhancers	Primary B cells from peripheral blood	blood
34	chr7:101624600-101626800	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr7:101624600-101627000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr7:101624600-101630000	Enhancers	Stomach Mucosa	stomach
37	chr7:101625000-101626800	Enhancers	Primary B cells from cord blood	blood
38	chr7:101625000-101626800	Weak transcription	Thymus	Thymus
39	chr7:101625000-101630200	Weak transcription	Spleen	Spleen
40	chr7:101625600-101630200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr7:101625600-101635400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:101625600-101635400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr7:101625800-101626800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr7:101625800-101629200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:101625800-101634200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr7:101626000-101627000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr7:101626000-101628200	Weak transcription	Fetal Lung	lung
48	chr7:101626200-101626800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
49	chr7:101626200-101626800	ZNF genes & repeats	Hela-S3	cervix
50	chr7:101626200-101627000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung

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