Variant report

Variant	rs5743662
Chromosome Location	chr11:71710239-71710240
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:71709849-71710552	GM12878	blood:	n/a	n/a
2	BACH1	chr11:71710174-71710241	K562	blood:	n/a	n/a
3	POLR2A	chr11:71709762-71711319	GM12891	blood:	n/a	n/a
4	POLR2A	chr11:71710230-71710284	HUVEC	blood vessel:	n/a	n/a
5	PML	chr11:71709459-71710304	GM12878	blood:	n/a	n/a
6	RUNX3	chr11:71709709-71710433	GM12878	blood:	n/a	n/a
7	ATF2	chr11:71709717-71710309	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:71709831-71710620	A549	lung:	n/a	n/a
9	POLR2A	chr11:71709398-71711096	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:71709727-71710485	GM12892	blood:	n/a	n/a
11	POLR2A	chr11:71709739-71710314	GM12878	blood:	n/a	n/a
12	RUNX3	chr11:71709686-71710968	GM12878	blood:	n/a	n/a
13	SPI1	chr11:71709637-71710275	HL-60	blood:	n/a	chr11:71709934-71709947
14	POLR2A	chr11:71709598-71711437	GM12878	blood:	n/a	n/a
15	STAT5A	chr11:71709542-71710629	GM12878	blood:	n/a	chr11:71709856-71709868
16	POLR2A	chr11:71709671-71710608	HL-60	blood:	n/a	n/a
17	NFIC	chr11:71709603-71710455	GM12878	blood:	n/a	n/a
18	SPI1	chr11:71709611-71710400	GM12878	blood:	n/a	chr11:71709934-71709947
19	POLR2A	chr11:71707765-71727247	K562	blood:	n/a	n/a
20	POLR2A	chr11:71709694-71719179	K562	blood:	n/a	n/a
21	NFATC1	chr11:71709425-71710673	GM12878	blood:	n/a	n/a
22	NFATC1	chr11:71709649-71710857	GM12878	blood:	n/a	n/a
23	MTA3	chr11:71709255-71711126	GM12878	blood:	n/a	n/a
24	POLR2A	chr11:71710205-71711411	HUVEC	blood vessel:	n/a	n/a
25	RCOR1	chr11:71709849-71710270	GM12878	blood:	n/a	n/a
26	TBL1XR1	chr11:71710233-71710275	K562	blood:	n/a	n/a
27	POLR2A	chr11:71709687-71710455	GM12878	blood:	n/a	n/a
28	POLR2A	chr11:71709735-71710415	GM12878	blood:	n/a	n/a
29	POLR2A	chr11:71709800-71710429	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:71703508..71707371-chr11:71709245..71711101,3	K562	blood:
2	chr11:71709478..71712665-chr11:71718866..71721839,3	K562	blood:
3	chr11:71707937..71711570-chr11:71790035..71793811,3	K562	blood:

Variant related genes	Relation type
IL18BP	TF binding region
ENSG00000184154	Chromatin interaction
ENSG00000137497	Chromatin interaction
ENSG00000137522	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1062452	1.00[ASN][1000 genomes]
rs36029905	1.00[EUR][1000 genomes]
rs5743655	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5743664	1.00[ASN][1000 genomes]
rs5743669	1.00[ASN][1000 genomes]
rs5743670	1.00[ASN][1000 genomes]
rs5743678	1.00[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	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking 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	134 gene(s)	inside rSNPs	diseases
2	nsv428262	chr11:71363639-71804055	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71672200-71715200	Weak transcription	Fetal Brain Male	brain
2	chr11:71673600-71710800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:71674000-71710600	Weak transcription	Brain Germinal Matrix	brain
4	chr11:71677200-71736600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:71678000-71710600	Weak transcription	HMEC	breast
6	chr11:71689000-71711800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:71695200-71710600	Weak transcription	Esophagus	oesophagus
8	chr11:71695400-71712200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:71695400-71713000	Weak transcription	Psoas Muscle	Psoas
10	chr11:71699600-71712400	Weak transcription	Aorta	Aorta
11	chr11:71702200-71712600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr11:71702200-71713000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr11:71702200-71713400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:71702200-71713800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:71702400-71713000	Weak transcription	Fetal Kidney	kidney
16	chr11:71702800-71711000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr11:71703000-71710800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr11:71703000-71712800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr11:71704400-71710800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:71704600-71710400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:71704600-71710800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr11:71705400-71734400	Strong transcription	Fetal Intestine Small	intestine
23	chr11:71705800-71710400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:71705800-71711800	Strong transcription	HepG2	liver
25	chr11:71706000-71712000	Weak transcription	NHEK	skin
26	chr11:71706400-71717200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:71706600-71713000	Weak transcription	NH-A	brain
28	chr11:71706600-71714600	Genic enhancers	Fetal Muscle Leg	muscle
29	chr11:71706600-71718000	Genic enhancers	Fetal Muscle Trunk	muscle
30	chr11:71707200-71710600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:71707400-71711000	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr11:71707600-71710600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:71707600-71711600	Weak transcription	Fetal Lung	lung
34	chr11:71707600-71711600	Genic enhancers	K562	blood
35	chr11:71707600-71713200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr11:71707800-71710600	Weak transcription	Brain Anterior Caudate	brain
37	chr11:71707800-71712800	Weak transcription	Ovary	ovary
38	chr11:71708000-71710600	Weak transcription	Brain Angular Gyrus	brain
39	chr11:71708000-71710800	Enhancers	Fetal Thymus	thymus
40	chr11:71708200-71712400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr11:71708400-71710400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr11:71708600-71710800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:71708800-71710400	Enhancers	Placenta	Placenta
44	chr11:71708800-71710600	Weak transcription	Fetal Heart	heart
45	chr11:71709000-71712200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr11:71709200-71710400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr11:71709200-71710800	Enhancers	HUVEC	blood vessel
48	chr11:71709400-71710400	Enhancers	Primary hematopoietic stem cells	blood
49	chr11:71709400-71710800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr11:71709400-71710800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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