Variant report

Variant	rs952374
Chromosome Location	chr11:9225486-9225487
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	chr11:9223982..9226353-chr11:9228182..9230083,2	K562	blood:
2	chr11:9224063..9226510-chr11:9410318..9412693,2	K562	blood:

Variant related genes	Relation type
ENSG00000184014	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10770000	0.90[ASN][1000 genomes]
rs10770001	0.90[ASN][1000 genomes]
rs11042227	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11602591	0.83[AMR][1000 genomes]
rs11608172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12289113	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12295767	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12296016	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12420463	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12577661	0.90[CEU][hapmap];0.83[CHB][hapmap];0.87[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12796666	0.81[AMR][1000 genomes]
rs12801814	0.82[AMR][1000 genomes]
rs2133216	0.81[CEU][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs2873069	0.92[ASN][1000 genomes]
rs34446443	0.81[AMR][1000 genomes]
rs34494849	0.87[AMR][1000 genomes]
rs34716494	0.86[AMR][1000 genomes]
rs34729888	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35381016	0.82[AMR][1000 genomes]
rs35757766	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35955530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61875672	0.83[AMR][1000 genomes]
rs61875673	0.82[AMR][1000 genomes]
rs61877814	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6486206	0.81[JPT][hapmap]
rs6486210	0.82[JPT][hapmap];0.93[ASN][1000 genomes]
rs6486215	0.88[ASN][1000 genomes]
rs6486226	0.93[ASN][1000 genomes]
rs6486231	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs7104221	0.90[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7109911	0.96[ASN][1000 genomes]
rs7112540	0.82[JPT][hapmap];0.97[ASN][1000 genomes]
rs7114688	0.82[CHB][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs7115062	0.93[ASN][1000 genomes]
rs7116459	0.90[CEU][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7124178	0.82[AMR][1000 genomes]
rs7396439	0.82[JPT][hapmap];0.94[ASN][1000 genomes]
rs770	0.90[ASN][1000 genomes]
rs7924664	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7933448	0.91[ASN][1000 genomes]
rs7941520	0.90[ASN][1000 genomes]
rs7951700	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs956517	0.87[YRI][hapmap]
rs9736263	0.90[ASN][1000 genomes]
rs9888193	0.90[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9888229	0.82[JPT][hapmap];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1040049	chr11:9152536-9363488	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv1053045	chr11:9208881-9363488	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv540947	chr11:9208881-9363488	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9162000-9230600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:9169600-9238000	Weak transcription	Esophagus	oesophagus
3	chr11:9171800-9230200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr11:9172000-9230400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:9174000-9225800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:9182400-9231800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr11:9199800-9230400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr11:9200600-9229000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr11:9200600-9230400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr11:9201000-9230800	Weak transcription	HMEC	breast
11	chr11:9202600-9251200	Weak transcription	Small Intestine	intestine
12	chr11:9203200-9227200	Weak transcription	Right Atrium	heart
13	chr11:9214000-9227600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:9215400-9228400	Weak transcription	A549	lung
15	chr11:9215600-9228600	Weak transcription	Fetal Kidney	kidney
16	chr11:9219400-9228400	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr11:9221000-9227200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:9221200-9228400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:9221600-9227800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:9221600-9229200	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr11:9222000-9227800	Strong transcription	HSMM	muscle
22	chr11:9222000-9228200	Weak transcription	Colon Smooth Muscle	Colon
23	chr11:9222000-9228400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:9222200-9226000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:9222200-9228400	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr11:9222400-9228400	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr11:9222600-9227200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:9222800-9227600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:9222800-9228400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:9223000-9226000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:9223000-9227600	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr11:9223000-9227600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:9223000-9228400	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr11:9223200-9227200	Strong transcription	Osteobl	bone
35	chr11:9223400-9225800	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr11:9223400-9226000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr11:9223400-9227000	Strong transcription	Liver	Liver
38	chr11:9223400-9228600	Strong transcription	HepG2	liver
39	chr11:9223600-9225800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr11:9223600-9225800	Strong transcription	Primary B cells from peripheral blood	blood
41	chr11:9223600-9230800	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr11:9223800-9226600	Strong transcription	Primary hematopoietic stem cells	blood
43	chr11:9223800-9227800	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr11:9223800-9227800	Strong transcription	Placenta	Placenta
45	chr11:9224000-9232600	Weak transcription	Colonic Mucosa	Colon
46	chr11:9224200-9225600	Strong transcription	Duodenum Mucosa	Duodenum
47	chr11:9224200-9225800	Strong transcription	H9 Cell Line	embryonic stem cell
48	chr11:9224200-9225800	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr11:9224200-9225800	Strong transcription	HSMMtube	muscle
50	chr11:9224200-9225800	Strong transcription	NHDF-Ad	bronchial

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