Variant report

Variant	rs4150641
Chromosome Location	chr11:18370739-18370740
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:18363673..18366385-chr11:18369468..18372375,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10734259	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10741741	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10741742	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10832917	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10832921	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11024634	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1140047	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12286683	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12293544	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1520884	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2061164	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2124374	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3740711	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3802968	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3825025	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4150526	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4150550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4150561	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4150562	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4150564	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4150566	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4150575	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4150579	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4150588	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4150609	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4150610	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4150612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4150615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4150616	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4150622	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4150642	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4150650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4150651	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4150653	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4150655	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4150661	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4150673	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4353250	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4757637	1.00[CHB][hapmap]
rs4757645	0.86[CEU][hapmap]
rs6486419	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7103375	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7129995	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7947378	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9783347	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9988866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4150641	GTF2H1	cis	Esophagus Muscularis	GTEx
rs4150641	GTF2H1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18345000-18383200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:18345000-18405000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:18346800-18372000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:18346800-18382800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr11:18346800-18390400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:18347000-18372400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr11:18347000-18387400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr11:18347400-18371200	Strong transcription	Fetal Muscle Trunk	muscle
9	chr11:18348000-18371200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr11:18350400-18371200	Strong transcription	Dnd41	blood
11	chr11:18350400-18372000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:18350400-18372000	Strong transcription	Liver	Liver
13	chr11:18350600-18371600	Strong transcription	Fetal Intestine Large	intestine
14	chr11:18350800-18371200	Strong transcription	Fetal Thymus	thymus
15	chr11:18350800-18371800	Strong transcription	Fetal Muscle Leg	muscle
16	chr11:18350800-18372200	Strong transcription	Placenta	Placenta
17	chr11:18351200-18373600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:18351200-18387000	Weak transcription	Stomach Mucosa	stomach
19	chr11:18351600-18371200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:18351600-18371800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr11:18352400-18371600	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr11:18352400-18389000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:18353200-18372200	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr11:18353800-18372000	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr11:18354000-18371800	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr11:18354000-18372200	Strong transcription	Adipose Nuclei	Adipose
27	chr11:18354400-18371400	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr11:18354400-18371600	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr11:18354400-18371800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr11:18354400-18371800	Strong transcription	HSMM	muscle
31	chr11:18354400-18372000	Strong transcription	Duodenum Mucosa	Duodenum
32	chr11:18354400-18389400	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr11:18355000-18371200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr11:18355000-18372000	Strong transcription	Primary B cells from cord blood	blood
35	chr11:18355600-18372000	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr11:18357000-18389200	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr11:18357200-18379600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr11:18357400-18371800	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr11:18359200-18374200	Weak transcription	Psoas Muscle	Psoas
40	chr11:18360000-18382200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:18360200-18374400	Weak transcription	Small Intestine	intestine
42	chr11:18361800-18391600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr11:18362400-18374400	Weak transcription	Aorta	Aorta
44	chr11:18363000-18390200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr11:18363200-18379400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr11:18363200-18393000	Weak transcription	Fetal Heart	heart
47	chr11:18363600-18371400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr11:18363600-18371400	Strong transcription	Fetal Intestine Small	intestine
49	chr11:18363800-18371400	Strong transcription	Fetal Stomach	stomach
50	chr11:18364600-18371400	Strong transcription	Lung	lung

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