Variant report

Variant	rs4757645
Chromosome Location	chr11:18393845-18393846
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	chr11:18393586..18398285-chr11:18414518..18419763,6	K562	blood:
2	chr11:18342186..18344992-chr11:18392996..18395179,2	K562	blood:

Variant related genes	Relation type
ENSG00000110756	Chromatin interaction
ENSG00000110768	Chromatin interaction
ENSG00000134333	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10741741	0.86[CEU][hapmap]
rs11024605	0.89[YRI][hapmap]
rs11024607	0.89[YRI][hapmap]
rs11024612	0.90[YRI][hapmap]
rs11024625	1.00[YRI][hapmap]
rs12224608	0.89[YRI][hapmap]
rs1520884	0.86[CEU][hapmap]
rs2061164	0.86[CEU][hapmap]
rs3740711	0.86[CEU][hapmap]
rs3781944	0.89[YRI][hapmap]
rs3825025	0.90[CEU][hapmap]
rs4150530	1.00[YRI][hapmap]
rs4150550	0.86[CEU][hapmap]
rs4150561	0.86[CEU][hapmap]
rs4150562	0.86[CEU][hapmap]
rs4150564	0.86[CEU][hapmap]
rs4150575	0.86[CEU][hapmap]
rs4150579	0.86[CEU][hapmap]
rs4150610	0.85[CEU][hapmap]
rs4150612	0.86[CEU][hapmap]
rs4150615	0.86[CEU][hapmap]
rs4150616	0.84[CEU][hapmap]
rs4150622	0.86[CEU][hapmap]
rs4150641	0.86[CEU][hapmap]
rs4150650	0.86[CEU][hapmap]
rs4150651	0.86[CEU][hapmap]
rs4150655	0.86[CEU][hapmap]
rs4150661	0.86[CEU][hapmap]
rs4150673	0.86[CEU][hapmap]
rs4237721	1.00[YRI][hapmap]
rs4353250	0.86[CEU][hapmap]
rs4757637	0.81[CEU][hapmap]
rs4757642	1.00[YRI][hapmap]
rs4757644	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7113249	0.90[YRI][hapmap]
rs7122032	0.89[YRI][hapmap]
rs7128146	0.89[YRI][hapmap]
rs9783347	0.86[CEU][hapmap]
rs9988866	0.86[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv933836	chr11:18300254-18440933	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
4	nsv1047049	chr11:18359702-18520008	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv540955	chr11:18359702-18520008	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
6	nsv523373	chr11:18382911-18401531	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	esv1811183	chr11:18389643-18432437	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4757645	GTF2H1	cis	Esophagus Mucosa	GTEx
rs4757645	GTF2H1	cis	Esophagus Muscularis	GTEx
rs4757645	GTF2H1	cis	Nerve Tibial	GTEx

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18345000-18405000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:18387600-18394000	Weak transcription	Fetal Stomach	stomach
3	chr11:18387600-18395400	Weak transcription	Lung	lung
4	chr11:18387600-18398600	Weak transcription	Ovary	ovary
5	chr11:18387600-18404200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:18387600-18404400	Weak transcription	Esophagus	oesophagus
7	chr11:18387600-18404800	Weak transcription	Pancreas	Pancrea
8	chr11:18387800-18404400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr11:18388000-18405000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:18388200-18395000	Weak transcription	NHLF	lung
11	chr11:18388400-18402600	Weak transcription	Hela-S3	cervix
12	chr11:18388600-18394400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:18388800-18404400	Weak transcription	Brain Anterior Caudate	brain
14	chr11:18389200-18394400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr11:18389200-18404600	Weak transcription	Thymus	Thymus
16	chr11:18389400-18394600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr11:18389400-18394800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:18390000-18394200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr11:18390000-18404400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr11:18390000-18404400	Weak transcription	Fetal Brain Female	brain
21	chr11:18390200-18394200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:18390200-18404200	Weak transcription	Fetal Thymus	thymus
23	chr11:18390400-18394400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:18390400-18399800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:18390400-18400000	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr11:18390400-18404000	Weak transcription	NHDF-Ad	bronchial
27	chr11:18390400-18404200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:18390400-18404200	Weak transcription	HMEC	breast
29	chr11:18390400-18404600	Weak transcription	Primary B cells from cord blood	blood
30	chr11:18390400-18404800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr11:18390600-18404200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr11:18390600-18404200	Weak transcription	Adipose Nuclei	Adipose
33	chr11:18390600-18404200	Weak transcription	Osteobl	bone
34	chr11:18390800-18404200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:18391200-18395200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr11:18391200-18404200	Weak transcription	HSMM	muscle
37	chr11:18391400-18396000	Weak transcription	GM12878-XiMat	blood
38	chr11:18391400-18400000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:18391600-18404200	Weak transcription	A549	lung
40	chr11:18391800-18399200	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr11:18392000-18394800	Enhancers	Fetal Intestine Small	intestine
42	chr11:18392600-18394800	Enhancers	Fetal Intestine Large	intestine
43	chr11:18392800-18394000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:18393000-18404200	Weak transcription	HSMMtube	muscle
45	chr11:18393000-18404400	Weak transcription	Primary T cells from cord blood	blood
46	chr11:18393600-18404200	Weak transcription	HepG2	liver

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