Variant report

Variant	rs57640571
Chromosome Location	chr4:148797164-148797165
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:148796743..148799400-chr4:148805764..148808570,2	K562	blood:
2	chr4:148793093..148794809-chr4:148796760..148798646,2	MCF-7	breast:
3	chr4:148787670..148788596-chr4:148796263..148797180,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs58234592	1.00[AMR][1000 genomes]
rs58443426	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58740360	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58929565	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59178803	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59613700	1.00[AMR][1000 genomes]
rs72957775	1.00[AMR][1000 genomes]
rs72957780	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72957793	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv880243	chr4:148735644-148879583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv880244	chr4:148764252-148920089	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1029845	chr4:148766290-148916437	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1030001	chr4:148773479-148916437	Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148768400-148815600	Weak transcription	Primary T cells from cord blood	blood
2	chr4:148772000-148806000	Weak transcription	Fetal Thymus	thymus
3	chr4:148777000-148823000	Weak transcription	Small Intestine	intestine
4	chr4:148782000-148799400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr4:148784400-148810800	Weak transcription	Fetal Heart	heart
6	chr4:148786000-148804000	Weak transcription	Psoas Muscle	Psoas
7	chr4:148786000-148861400	Weak transcription	Pancreas	Pancrea
8	chr4:148787400-148800400	Weak transcription	NHEK	skin
9	chr4:148787600-148801600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:148788000-148798400	Weak transcription	Brain Substantia Nigra	brain
11	chr4:148788000-148800200	Weak transcription	Brain Hippocampus Middle	brain
12	chr4:148788800-148803200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:148789800-148805800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:148790200-148799000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:148790400-148805200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr4:148790600-148805800	Weak transcription	NHLF	lung
17	chr4:148791600-148804400	Weak transcription	Fetal Intestine Small	intestine
18	chr4:148793000-148797400	Strong transcription	Fetal Muscle Trunk	muscle
19	chr4:148793400-148797600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:148793400-148798000	Strong transcription	HSMM	muscle
21	chr4:148793600-148798400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:148794000-148797400	Strong transcription	Fetal Muscle Leg	muscle
23	chr4:148794000-148797600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:148794000-148798400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:148794000-148799000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr4:148794800-148810200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr4:148794800-148824600	Weak transcription	A549	lung
28	chr4:148795400-148797200	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr4:148795600-148797400	Strong transcription	NH-A	brain
30	chr4:148795800-148798000	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr4:148796000-148798200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr4:148796000-148798400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:148796000-148798800	Strong transcription	Adipose Nuclei	Adipose
34	chr4:148796000-148809600	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr4:148796200-148797200	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr4:148796200-148797400	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr4:148796200-148797400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr4:148796200-148797400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr4:148796200-148797400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr4:148796200-148797400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:148796200-148797400	Strong transcription	Esophagus	oesophagus
42	chr4:148796200-148797400	Strong transcription	Fetal Intestine Large	intestine
43	chr4:148796200-148797400	Strong transcription	Gastric	stomach
44	chr4:148796200-148797400	Strong transcription	Left Ventricle	heart
45	chr4:148796200-148797400	Strong transcription	HUVEC	blood vessel
46	chr4:148796200-148797400	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr4:148796200-148797400	Strong transcription	NHDF-Ad	bronchial
48	chr4:148796200-148797600	Strong transcription	Right Ventricle	heart
49	chr4:148796200-148797600	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr4:148796200-148797600	Strong transcription	Skeletal Muscle Female	skeletal muscle

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