Variant report

Variant	rs7930192
Chromosome Location	chr11:9188816-9188817
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9186906..9189002-chr11:9452951..9454977,2	K562	blood:
2	chr11:9186873..9191628-chr11:9481180..9484823,7	K562	blood:
3	chr11:9185545..9188924-chr11:9481802..9484134,3	K562	blood:

Variant related genes	Relation type
ENSG00000166478	Chromatin interaction
ENSG00000268403	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10769993	0.86[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs10769994	0.83[ASN][1000 genomes]
rs10769997	0.85[ASN][1000 genomes]
rs10769998	0.85[ASN][1000 genomes]
rs11042200	0.85[ASN][1000 genomes]
rs11042210	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11042214	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12099067	1.00[CEU][hapmap];0.82[CHB][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12286943	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12291375	0.87[ASN][1000 genomes]
rs16906742	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2291839	1.00[CEU][hapmap];0.82[CHB][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2316088	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2742558	0.83[ASN][1000 genomes]
rs3898554	0.88[JPT][hapmap]
rs56077948	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56216908	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61877902	0.84[AMR][1000 genomes]
rs7120239	0.85[ASN][1000 genomes]
rs7395151	0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs7396705	0.83[ASN][1000 genomes]
rs7925418	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs883550	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs956517	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9155000-9203400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:9161200-9202400	Weak transcription	Small Intestine	intestine
3	chr11:9162000-9191200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:9162000-9230600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:9166000-9200600	Weak transcription	Colonic Mucosa	Colon
6	chr11:9169200-9198400	Weak transcription	Thymus	Thymus
7	chr11:9169600-9238000	Weak transcription	Esophagus	oesophagus
8	chr11:9171800-9191400	Weak transcription	Psoas Muscle	Psoas
9	chr11:9171800-9230200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr11:9172000-9230400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr11:9172200-9197800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr11:9172200-9199600	Weak transcription	Gastric	stomach
13	chr11:9173000-9199400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr11:9173400-9191000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr11:9173400-9199600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:9173600-9199600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr11:9174000-9194800	Weak transcription	Fetal Kidney	kidney
18	chr11:9174000-9198200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:9174000-9199400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr11:9174000-9225800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr11:9174400-9191000	Weak transcription	Fetal Heart	heart
22	chr11:9175800-9193000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr11:9178200-9195400	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr11:9178600-9190000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:9178800-9192200	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr11:9180000-9199600	Weak transcription	Aorta	Aorta
27	chr11:9180800-9191200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:9182200-9191800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:9182400-9190400	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr11:9182400-9190800	Weak transcription	Fetal Intestine Large	intestine
31	chr11:9182400-9191200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr11:9182400-9225000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr11:9182400-9231800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr11:9182600-9189200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr11:9182600-9189800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr11:9182600-9189800	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr11:9182600-9190400	Weak transcription	HepG2	liver
38	chr11:9182600-9191000	Weak transcription	HMEC	breast
39	chr11:9182600-9191000	Weak transcription	NHLF	lung
40	chr11:9182600-9191200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:9182600-9191200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr11:9182600-9191200	Weak transcription	Lung	lung
43	chr11:9182600-9191800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr11:9182600-9198000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr11:9182600-9199000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr11:9182600-9199600	Weak transcription	Fetal Brain Male	brain
47	chr11:9183000-9191000	Weak transcription	NHEK	skin
48	chr11:9183000-9191200	Weak transcription	Fetal Lung	lung
49	chr11:9183000-9195400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr11:9183800-9190800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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