Variant report

Variant	rs72992191
Chromosome Location	chr11:108344264-108344265
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:108343327..108347067-chr11:108367096..108369729,3	K562	blood:

Variant related genes	Relation type
ENSG00000178202	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10890837	0.90[EUR][1000 genomes]
rs10890838	0.90[EUR][1000 genomes]
rs10890844	0.93[EUR][1000 genomes]
rs10890845	0.90[EUR][1000 genomes]
rs10890846	0.89[EUR][1000 genomes]
rs11212650	0.93[EUR][1000 genomes]
rs11212653	0.94[EUR][1000 genomes]
rs11212674	0.88[EUR][1000 genomes]
rs11828864	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12274479	0.93[EUR][1000 genomes]
rs12278954	0.93[EUR][1000 genomes]
rs17108024	0.93[EUR][1000 genomes]
rs1801516	1.00[ASN][1000 genomes]
rs3092991	1.00[ASN][1000 genomes]
rs3092993	1.00[ASN][1000 genomes]
rs4753835	1.00[ASN][1000 genomes]
rs4753840	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4753843	0.92[EUR][1000 genomes]
rs4754317	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4988023	1.00[ASN][1000 genomes]
rs55930851	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55949629	1.00[ASN][1000 genomes]
rs72992163	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72992175	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72993806	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72997833	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73008229	1.00[ASN][1000 genomes]
rs7396719	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7938612	0.92[EUR][1000 genomes]
rs7947933	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv832263	chr11:108183372-108384391	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108338200-108345400	Weak transcription	Gastric	stomach
2	chr11:108338200-108345600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:108338200-108345600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:108338200-108346200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:108338200-108359000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:108338200-108367600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:108338400-108347600	Weak transcription	Lung	lung
8	chr11:108338400-108352600	Weak transcription	Spleen	Spleen
9	chr11:108338600-108344400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:108338600-108347800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr11:108338600-108364800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr11:108338600-108367200	Weak transcription	A549	lung
13	chr11:108338600-108367800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr11:108338800-108344600	Weak transcription	Fetal Intestine Large	intestine
15	chr11:108338800-108345000	Weak transcription	Primary T cells from cord blood	blood
16	chr11:108338800-108345400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:108338800-108345400	Weak transcription	Aorta	Aorta
18	chr11:108338800-108345400	Weak transcription	Esophagus	oesophagus
19	chr11:108338800-108345400	Weak transcription	Fetal Stomach	stomach
20	chr11:108338800-108345400	Weak transcription	Ovary	ovary
21	chr11:108338800-108345400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr11:108338800-108345400	Weak transcription	Thymus	Thymus
23	chr11:108338800-108345600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr11:108338800-108345600	Weak transcription	Pancreas	Pancrea
25	chr11:108338800-108345800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr11:108338800-108347200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr11:108338800-108347400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr11:108338800-108347400	Weak transcription	Fetal Kidney	kidney
29	chr11:108338800-108347400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr11:108338800-108347600	Weak transcription	Colon Smooth Muscle	Colon
31	chr11:108338800-108347600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr11:108338800-108347800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:108338800-108347800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr11:108338800-108347800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:108338800-108347800	Weak transcription	Colonic Mucosa	Colon
36	chr11:108338800-108347800	Weak transcription	Left Ventricle	heart
37	chr11:108338800-108347800	Weak transcription	Right Ventricle	heart
38	chr11:108338800-108348200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr11:108338800-108349000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr11:108338800-108352400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:108338800-108354800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr11:108338800-108356800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr11:108338800-108356800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr11:108338800-108356800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr11:108338800-108357200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:108338800-108367200	Weak transcription	HSMMtube	muscle
47	chr11:108338800-108367400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:108338800-108367400	Weak transcription	HUVEC	blood vessel
49	chr11:108338800-108367600	Weak transcription	Brain Angular Gyrus	brain
50	chr11:108338800-108367600	Weak transcription	Small Intestine	intestine

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