Variant report

Variant	rs4725383
Chromosome Location	chr7:150595998-150595999
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150595255..150596427-chr7:150685626..150686266,3	MCF-7	breast:
2	chr7:150595645..150596235-chr7:150869234..150870141,2	MCF-7	breast:
3	chr7:150595334..150596475-chr7:150715020..150715911,4	K562	blood:
4	chr7:150595062..150596167-chr7:150685299..150686246,6	MCF-7	breast:
5	chr7:150594719..150596784-chr7:150671045..150673400,2	MCF-7	breast:
6	chr7:150573795..150574494-chr7:150595524..150596109,2	MCF-7	breast:
7	chr7:150595241..150596841-chr7:150652736..150654627,2	K562	blood:
8	chr7:150595118..150596336-chr7:150685225..150686536,14	K562	blood:
9	chr7:150595552..150596160-chr7:150807947..150808760,2	K562	blood:
10	chr7:150589872..150593985-chr7:150595485..150599567,4	K562	blood:
11	chr7:150595261..150596228-chr7:150705729..150706424,2	K562	blood:
12	chr7:150595619..150596243-chr7:150682817..150683798,3	K562	blood:
13	chr7:150595224..150596309-chr7:150682667..150684079,9	MCF-7	breast:
14	chr7:150595709..150596608-chr7:150682983..150683767,2	MCF-7	breast:
15	chr7:150595266..150596292-chr7:150659766..150660896,3	K562	blood:
16	chr7:150588989..150591013-chr7:150594211..150596006,2	K562	blood:
17	chr7:150595318..150596192-chr7:150714946..150715892,2	MCF-7	breast:
18	chr7:150595860..150599286-chr7:150714310..150716664,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000164867	Chromatin interaction
ENSG00000181652	Chromatin interaction
ENSG00000055118	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10277774	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1049748	0.80[JPT][hapmap]
rs12374823	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs2191753	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4725375	0.83[EUR][1000 genomes]
rs956642	0.91[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv967475	chr7:150323577-150610034	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	esv2758140	chr7:150538821-150663697	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS 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	13 gene(s)	inside rSNPs	diseases
7	esv2759574	chr7:150538821-150663697	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv967441	chr7:150566747-150612420	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv970968	chr7:150589281-150612420	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150592800-150596000	Enhancers	Primary B cells from peripheral blood	blood
2	chr7:150594000-150607400	Weak transcription	Right Atrium	heart
3	chr7:150594200-150596000	Enhancers	Primary B cells from cord blood	blood
4	chr7:150595000-150596000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
5	chr7:150595000-150596000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:150595000-150596200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr7:150595200-150596000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
8	chr7:150595200-150596000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
9	chr7:150595200-150596000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:150595200-150596000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:150595200-150596000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
12	chr7:150595200-150596200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr7:150595200-150596200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
14	chr7:150595200-150596200	Enhancers	Colon Smooth Muscle	Colon
15	chr7:150595200-150596200	Enhancers	GM12878-XiMat	blood
16	chr7:150595200-150596800	Bivalent Enhancer	Placenta	Placenta
17	chr7:150595400-150596000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:150595400-150596000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
19	chr7:150595400-150596000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr7:150595400-150596000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
21	chr7:150595400-150596000	Bivalent Enhancer	Adipose Nuclei	Adipose
22	chr7:150595400-150596000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr7:150595400-150596000	Enhancers	Fetal Brain Male	brain
24	chr7:150595400-150596000	Enhancers	Fetal Heart	heart
25	chr7:150595400-150596000	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
26	chr7:150595400-150596000	Enhancers	Right Ventricle	heart
27	chr7:150595400-150596000	Bivalent Enhancer	A549	lung
28	chr7:150595400-150596200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr7:150595400-150596200	Enhancers	Brain Anterior Caudate	brain
30	chr7:150595400-150596200	Enhancers	Duodenum Mucosa	Duodenum
31	chr7:150595400-150596200	Enhancers	Esophagus	oesophagus
32	chr7:150595400-150596200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr7:150595400-150596200	Bivalent Enhancer	Fetal Muscle Leg	muscle
34	chr7:150595400-150596200	Bivalent Enhancer	Stomach Mucosa	stomach
35	chr7:150595400-150596400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:150595400-150596400	Enhancers	Fetal Intestine Small	intestine
37	chr7:150595400-150596600	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr7:150595600-150596000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
39	chr7:150595600-150596000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
40	chr7:150595600-150596000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
41	chr7:150595600-150596000	Enhancers	Liver	Liver
42	chr7:150595600-150596000	Enhancers	Colonic Mucosa	Colon
43	chr7:150595600-150596000	Flanking Active TSS	Rectal Smooth Muscle	rectum
44	chr7:150595600-150596000	Enhancers	Hela-S3	cervix
45	chr7:150595600-150596200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:150595600-150596200	Bivalent Enhancer	Brain Cingulate Gyrus	brain
47	chr7:150595600-150596200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
48	chr7:150595800-150596000	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr7:150595800-150596000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr7:150595800-150596000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin

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