Variant report

Variant	rs4910156
Chromosome Location	chr11:8941197-8941198
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:8708580..8711045-chr11:8941082..8943163,2	K562	blood:
2	chr11:8702949..8705431-chr11:8939246..8941790,2	K562	blood:
3	chr11:8940894..8943078-chr11:8949203..8951550,2	K562	blood:
4	chr11:8940620..8943003-chr11:8946457..8949397,2	MCF-7	breast:
5	chr11:8932894..8935848-chr11:8939704..8942877,3	MCF-7	breast:
6	chr11:8940894..8943173-chr11:8949726..8951550,2	K562	blood:

Variant related genes	Relation type
ENSG00000166441	Chromatin interaction
ENSG00000166452	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10743093	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10743095	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10743096	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10769968	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10769970	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10769971	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10769973	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10769979	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10769980	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10769981	0.81[EUR][1000 genomes]
rs10840141	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10840142	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10840147	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10840148	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10840157	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10840158	0.81[ASN][1000 genomes]
rs11042102	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11042103	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11042125	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11042152	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11042154	0.80[EUR][1000 genomes]
rs1109305	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1560569	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1569408	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1883098	0.86[EUR][1000 genomes]
rs1980429	0.81[ASN][1000 genomes]
rs1988708	0.83[EUR][1000 genomes]
rs1988709	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2012696	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2016942	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2568020	0.80[ASN][1000 genomes]
rs2568054	0.83[EUR][1000 genomes]
rs2568059	0.84[EUR][1000 genomes]
rs2568061	0.85[EUR][1000 genomes]
rs2568062	0.85[EUR][1000 genomes]
rs2568065	0.86[EUR][1000 genomes]
rs2653567	0.86[EUR][1000 genomes]
rs2653570	0.80[ASN][1000 genomes]
rs2653593	0.83[EUR][1000 genomes]
rs2653605	0.80[ASN][1000 genomes]
rs2653616	0.85[EUR][1000 genomes]
rs2742471	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2742474	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2742480	0.80[ASN][1000 genomes]
rs2742550	0.84[EUR][1000 genomes]
rs34842234	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4909952	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4910119	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4910157	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4910158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4910200	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4929922	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7123861	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7479407	0.84[EUR][1000 genomes]
rs7482838	0.82[ASN][1000 genomes]
rs7484180	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7925728	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7930026	0.82[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	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv435923	chr11:8839325-9000602	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv832062	chr11:8849295-9009472	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4910156	TMEM9B-AS1	cis	lung	GTEx
rs4910156	AKIP1	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8933400-8947800	Weak transcription	Small Intestine	intestine
2	chr11:8933600-8944000	Weak transcription	Pancreas	Pancrea
3	chr11:8934000-8941800	Weak transcription	Colonic Mucosa	Colon
4	chr11:8934000-8952200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:8934200-8941600	Weak transcription	Esophagus	oesophagus
6	chr11:8934200-8948800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:8936000-8942800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:8936200-8945800	Weak transcription	Primary B cells from peripheral blood	blood
9	chr11:8936400-8941800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:8936400-8946000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr11:8936400-8946800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr11:8936400-8951200	Weak transcription	Right Atrium	heart
13	chr11:8936600-8941400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr11:8936600-8941600	Weak transcription	Ovary	ovary
15	chr11:8936600-8945000	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr11:8936600-8945800	Weak transcription	Stomach Mucosa	stomach
17	chr11:8936600-8946600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr11:8936600-8948600	Strong transcription	Fetal Thymus	thymus
19	chr11:8936600-8949000	Strong transcription	Fetal Stomach	stomach
20	chr11:8936600-8954000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr11:8936800-8942200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr11:8936800-8947000	Strong transcription	Dnd41	blood
23	chr11:8936800-8947600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr11:8937000-8947600	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr11:8937000-8948200	Strong transcription	Fetal Brain Female	brain
26	chr11:8937200-8945000	Strong transcription	Brain Angular Gyrus	brain
27	chr11:8937200-8947400	Strong transcription	Thymus	Thymus
28	chr11:8937600-8944800	Strong transcription	Hela-S3	cervix
29	chr11:8937800-8947400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:8938000-8941200	Enhancers	Placenta Amnion	Placenta Amnion
31	chr11:8938000-8941200	Strong transcription	K562	blood
32	chr11:8938000-8943000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr11:8938000-8943200	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr11:8938000-8944200	Strong transcription	HUVEC	blood vessel
35	chr11:8938000-8944600	Strong transcription	Brain Inferior Temporal Lobe	brain
36	chr11:8938000-8944800	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr11:8938000-8944800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr11:8938000-8944800	Strong transcription	Fetal Intestine Large	intestine
39	chr11:8938000-8945000	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr11:8938000-8945000	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr11:8938000-8945800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:8938000-8946400	Strong transcription	Brain Hippocampus Middle	brain
43	chr11:8938000-8946600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:8938000-8946800	Strong transcription	Liver	Liver
45	chr11:8938000-8947400	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr11:8938000-8947600	Strong transcription	Brain Cingulate Gyrus	brain
47	chr11:8938200-8943000	Strong transcription	Primary hematopoietic stem cells	blood
48	chr11:8938200-8943200	Strong transcription	Primary T cells from cord blood	blood
49	chr11:8938200-8944800	Strong transcription	Duodenum Mucosa	Duodenum
50	chr11:8938200-8947000	Strong transcription	Brain Anterior Caudate	brain

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