Variant report

Variant	rs57954319
Chromosome Location	chr4:87697107-87697108
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:87694942..87697515-chr4:87732040..87733923,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10016074	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10019950	0.89[ASN][1000 genomes]
rs1035191	0.93[ASN][1000 genomes]
rs10516778	0.93[ASN][1000 genomes]
rs12331502	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12503659	0.90[ASN][1000 genomes]
rs12510802	0.93[ASN][1000 genomes]
rs13113689	0.92[ASN][1000 genomes]
rs1420621	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17012072	0.88[ASN][1000 genomes]
rs17420607	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17420966	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17454154	0.93[ASN][1000 genomes]
rs17454662	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2006842	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2054592	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2054593	0.89[ASN][1000 genomes]
rs2230600	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3775236	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3775238	0.89[ASN][1000 genomes]
rs3775239	0.86[ASN][1000 genomes]
rs4263359	0.87[ASN][1000 genomes]
rs4693150	0.81[ASN][1000 genomes]
rs4693780	0.87[ASN][1000 genomes]
rs67867077	0.87[ASN][1000 genomes]
rs72665791	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs969734	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv830001	chr4:87585278-87748643	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87631200-87712200	Weak transcription	Aorta	Aorta
2	chr4:87635200-87737400	Weak transcription	Fetal Brain Male	brain
3	chr4:87639400-87739200	Weak transcription	A549	lung
4	chr4:87642400-87735800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr4:87642600-87697600	Weak transcription	Brain Angular Gyrus	brain
6	chr4:87642600-87719200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr4:87655600-87704400	Weak transcription	Hela-S3	cervix
8	chr4:87661600-87710200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr4:87661600-87711400	Weak transcription	Brain Germinal Matrix	brain
10	chr4:87661600-87712000	Weak transcription	Esophagus	oesophagus
11	chr4:87661600-87737800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr4:87661800-87708000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:87661800-87712000	Weak transcription	Fetal Intestine Small	intestine
14	chr4:87661800-87728800	Weak transcription	Pancreas	Pancrea
15	chr4:87663000-87711400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:87671800-87713000	Weak transcription	HSMMtube	muscle
17	chr4:87672000-87712200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr4:87672800-87710000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr4:87672800-87712000	Weak transcription	Lung	lung
20	chr4:87676200-87699600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr4:87677000-87711400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:87677200-87708600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr4:87678800-87699800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:87679000-87712000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:87679000-87712400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:87679200-87699800	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr4:87679400-87700200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr4:87679400-87702200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:87681000-87710200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:87682200-87701800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr4:87684200-87698000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:87684400-87710000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr4:87685000-87699400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:87685600-87697800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr4:87685600-87698800	Strong transcription	HMEC	breast
36	chr4:87685800-87699600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr4:87685800-87699800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:87686200-87712200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr4:87686400-87699800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr4:87687200-87699800	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr4:87688600-87708000	Weak transcription	Fetal Stomach	stomach
42	chr4:87688800-87698400	Strong transcription	NHDF-Ad	bronchial
43	chr4:87689400-87697600	Weak transcription	Brain Anterior Caudate	brain
44	chr4:87689400-87738200	Weak transcription	Gastric	stomach
45	chr4:87690000-87738800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr4:87690600-87699600	Strong transcription	Fetal Lung	lung
47	chr4:87690800-87736000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr4:87691000-87704600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr4:87691400-87699600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr4:87691400-87712000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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