Variant report

Variant	rs13108570
Chromosome Location	chr4:57807083-57807084
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	chr4:57806470..57808618-chr4:57813053..57815921,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10866441	0.82[CEU][hapmap]
rs1105434	0.82[CEU][hapmap]
rs11133469	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12641030	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13101682	0.94[JPT][hapmap]
rs13130605	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1877669	0.82[CEU][hapmap]
rs2170073	1.00[CEU][hapmap]
rs2271808	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs3000	0.82[CEU][hapmap]
rs4339274	1.00[CEU][hapmap]
rs6830501	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6830774	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6838948	0.82[CEU][hapmap]
rs6847086	0.82[JPT][hapmap]
rs7680140	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7680734	0.82[CEU][hapmap]
rs7697176	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9685436	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1012287	chr4:57652778-57853485	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1012125	chr4:57668229-57865803	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer 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	24 gene(s)	inside rSNPs	diseases
4	esv3425352	chr4:57783591-57820951	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	3 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	chr4:57780800-57808200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr4:57793600-57842000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:57793600-57842000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:57797600-57811800	Weak transcription	Stomach Mucosa	stomach
5	chr4:57798000-57809400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr4:57798000-57814200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr4:57798200-57809600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr4:57798200-57811800	Weak transcription	Esophagus	oesophagus
9	chr4:57798200-57828400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr4:57798200-57829600	Weak transcription	Pancreas	Pancrea
11	chr4:57798400-57808200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr4:57798400-57810800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr4:57798400-57811800	Weak transcription	Fetal Kidney	kidney
14	chr4:57798400-57814000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:57798400-57828200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr4:57798600-57828200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr4:57799400-57808600	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr4:57799800-57807400	Weak transcription	Small Intestine	intestine
19	chr4:57799800-57809000	Weak transcription	HepG2	liver
20	chr4:57800000-57807200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr4:57800200-57811000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr4:57800400-57809400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr4:57801800-57808600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:57803800-57807400	Weak transcription	A549	lung
25	chr4:57803800-57828400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr4:57804000-57808800	Weak transcription	Lung	lung
27	chr4:57804200-57807200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr4:57804200-57807200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr4:57804200-57808800	Weak transcription	Osteobl	bone
30	chr4:57804200-57810000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:57804200-57824200	Weak transcription	NH-A	brain
32	chr4:57804400-57808000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr4:57804400-57809000	Weak transcription	HUVEC	blood vessel
34	chr4:57804400-57811600	Weak transcription	NHEK	skin
35	chr4:57804600-57809400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr4:57804800-57807400	Weak transcription	Fetal Muscle Leg	muscle
37	chr4:57804800-57807600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr4:57804800-57807600	Weak transcription	Ovary	ovary
39	chr4:57804800-57809000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr4:57804800-57812400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr4:57804800-57826600	Weak transcription	Liver	Liver
42	chr4:57805000-57808200	Weak transcription	Fetal Intestine Large	intestine
43	chr4:57805000-57809600	Weak transcription	Fetal Thymus	thymus
44	chr4:57805000-57830800	Weak transcription	Colonic Mucosa	Colon
45	chr4:57805200-57807600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr4:57805200-57810000	Weak transcription	HSMM	muscle
47	chr4:57805200-57812200	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr4:57805400-57807800	Weak transcription	Dnd41	blood
49	chr4:57805400-57808400	Weak transcription	Adipose Nuclei	Adipose
50	chr4:57805400-57809200	Weak transcription	Primary T cells fromperipheralblood	blood

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