Variant report

Variant	rs10047438
Chromosome Location	chr11:9174562-9174563
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9166569..9169771-chr11:9171907..9174978,4	K562	blood:

Variant related genes	Relation type
ENSG00000184014	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1039210	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10769991	0.90[ASN][1000 genomes]
rs10769994	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10769995	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10769996	0.97[ASN][1000 genomes]
rs10769997	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10769998	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10769999	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10840175	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10840176	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10840178	0.88[ASN][1000 genomes]
rs10840179	0.90[ASN][1000 genomes]
rs10840181	0.92[ASN][1000 genomes]
rs10840182	0.92[ASN][1000 genomes]
rs10840183	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10840185	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11042189	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11042195	0.87[ASN][1000 genomes]
rs11042199	0.92[ASN][1000 genomes]
rs11042200	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11042211	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11604616	0.88[ASN][1000 genomes]
rs12291375	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17256375	0.91[ASN][1000 genomes]
rs1827011	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1874822	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1997628	0.90[ASN][1000 genomes]
rs2133217	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2291839	0.88[ASN][1000 genomes]
rs2316087	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2647537	0.85[ASN][1000 genomes]
rs2742556	0.84[ASN][1000 genomes]
rs2742557	0.84[ASN][1000 genomes]
rs4910035	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5011703	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56077948	0.89[ASN][1000 genomes]
rs56216908	0.82[ASN][1000 genomes]
rs6486199	0.81[AMR][1000 genomes]
rs7109745	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7120239	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7123970	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7128469	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7394878	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7395151	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7395347	0.90[ASN][1000 genomes]
rs7395846	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7396705	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7925308	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7930507	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7931872	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7947251	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9888257	0.89[ASN][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	nsv526778	chr11:9159739-9185077	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9142600-9175000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:9151800-9175800	Strong transcription	Fetal Muscle Trunk	muscle
3	chr11:9152800-9175800	Strong transcription	Fetal Muscle Leg	muscle
4	chr11:9153000-9179800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr11:9155000-9203400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:9157000-9180000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr11:9158000-9183200	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr11:9159000-9175800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr11:9159600-9179400	Strong transcription	Primary T cells from cord blood	blood
10	chr11:9159800-9183400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:9160000-9177200	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr11:9160200-9174600	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr11:9160200-9174800	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr11:9160200-9175600	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr11:9160400-9175600	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr11:9160600-9175400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr11:9161200-9175400	Strong transcription	Fetal Lung	lung
18	chr11:9161200-9202400	Weak transcription	Small Intestine	intestine
19	chr11:9161400-9175600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:9161400-9179200	Strong transcription	Fetal Stomach	stomach
21	chr11:9161400-9181000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:9162000-9175800	Strong transcription	Adipose Nuclei	Adipose
23	chr11:9162000-9191200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:9162000-9230600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr11:9162400-9175400	Strong transcription	Liver	Liver
26	chr11:9162400-9175400	Strong transcription	HepG2	liver
27	chr11:9165600-9175400	Strong transcription	Brain Germinal Matrix	brain
28	chr11:9165800-9175200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr11:9166000-9200600	Weak transcription	Colonic Mucosa	Colon
30	chr11:9166400-9175600	Strong transcription	Primary hematopoietic stem cells	blood
31	chr11:9167000-9175200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr11:9167600-9176000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr11:9167600-9176000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr11:9167800-9187600	Strong transcription	Placenta	Placenta
35	chr11:9169200-9198400	Weak transcription	Thymus	Thymus
36	chr11:9169400-9175000	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr11:9169400-9186400	Weak transcription	Fetal Intestine Small	intestine
38	chr11:9169600-9175400	Strong transcription	Brain Inferior Temporal Lobe	brain
39	chr11:9169600-9176000	Strong transcription	Hela-S3	cervix
40	chr11:9169600-9238000	Weak transcription	Esophagus	oesophagus
41	chr11:9169800-9179400	Strong transcription	Brain Cingulate Gyrus	brain
42	chr11:9170200-9175400	Strong transcription	Brain Hippocampus Middle	brain
43	chr11:9170800-9174800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:9171000-9182000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr11:9171600-9181800	Weak transcription	Fetal Brain Male	brain
46	chr11:9171800-9174600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:9171800-9180400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr11:9171800-9191400	Weak transcription	Psoas Muscle	Psoas
49	chr11:9171800-9230200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr11:9172000-9175200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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