Variant report

Variant	rs17256375
Chromosome Location	chr11:9168118-9168119
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: 47 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10047438	0.91[ASN][1000 genomes]
rs1039210	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10769991	0.82[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10769992	0.83[JPT][hapmap]
rs10769993	0.91[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10769995	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10769996	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10840174	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10840176	0.87[ASN][1000 genomes]
rs10840178	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10840179	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10840181	0.84[ASN][1000 genomes]
rs10840182	0.84[ASN][1000 genomes]
rs10840183	0.94[ASN][1000 genomes]
rs10840185	0.89[ASN][1000 genomes]
rs10840202	0.82[CHD][hapmap]
rs11042195	0.82[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11042199	0.86[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs11042200	0.86[CHB][hapmap]
rs11604616	0.82[CEU][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12099067	0.86[CHD][hapmap]
rs12286943	0.82[CHD][hapmap]
rs1353730	0.91[LWK][hapmap];0.82[MEX][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1874822	0.84[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1997628	0.85[ASN][1000 genomes]
rs2133217	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2291839	0.82[CHD][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs2647537	0.92[JPT][hapmap];0.80[ASN][1000 genomes]
rs2742556	1.00[JPT][hapmap]
rs3898554	0.86[MEX][hapmap];0.82[MKK][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4537761	0.82[CHD][hapmap]
rs56077948	0.87[ASN][1000 genomes]
rs7109745	0.88[ASN][1000 genomes]
rs7123970	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7394878	1.00[CHB][hapmap];0.95[CHD][hapmap]
rs7395347	0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7395846	0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7925308	1.00[CHB][hapmap]
rs7925418	0.86[CHB][hapmap]
rs7930507	1.00[CHB][hapmap];0.91[CHD][hapmap]
rs7947251	0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7948219	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9888257	0.86[CHB][hapmap];0.82[CHD][hapmap];0.92[JPT][hapmap];0.87[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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17256375	RNF141	cis	cerebellum	SCAN
rs17256375	TMEM41B	cis	multi-tissue	Pritchard

Chromatin state (count:125 , 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	chr11:9159000-9169400	Strong transcription	Fetal Intestine Small	intestine
9	chr11:9159000-9170200	Genic enhancers	Brain Hippocampus Middle	brain
10	chr11:9159000-9175800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr11:9159400-9170200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr11:9159400-9174400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr11:9159600-9179400	Strong transcription	Primary T cells from cord blood	blood
14	chr11:9159800-9169200	Strong transcription	Right Ventricle	heart
15	chr11:9159800-9183400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:9160000-9174000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:9160000-9177200	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr11:9160200-9174600	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr11:9160200-9174800	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr11:9160200-9175600	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr11:9160400-9171400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr11:9160400-9174200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr11:9160400-9175600	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr11:9160600-9172000	Strong transcription	Colon Smooth Muscle	Colon
25	chr11:9160600-9174000	Strong transcription	H9 Cell Line	embryonic stem cell
26	chr11:9160600-9174200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:9160600-9174200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:9160600-9175400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr11:9160800-9174000	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr11:9161000-9174000	Strong transcription	Primary B cells from cord blood	blood
31	chr11:9161200-9172200	Strong transcription	Rectal Smooth Muscle	rectum
32	chr11:9161200-9172400	Strong transcription	Duodenum Mucosa	Duodenum
33	chr11:9161200-9174000	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr11:9161200-9174200	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr11:9161200-9175400	Strong transcription	Fetal Lung	lung
36	chr11:9161200-9202400	Weak transcription	Small Intestine	intestine
37	chr11:9161400-9171600	Strong transcription	HSMM	muscle
38	chr11:9161400-9172000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:9161400-9173000	Weak transcription	Stomach Mucosa	stomach
40	chr11:9161400-9174200	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr11:9161400-9175600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr11:9161400-9179200	Strong transcription	Fetal Stomach	stomach
43	chr11:9161400-9181000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:9161600-9171600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:9161600-9172200	Strong transcription	HSMMtube	muscle
46	chr11:9161600-9174000	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr11:9161800-9171200	Strong transcription	NHDF-Ad	bronchial
48	chr11:9161800-9171800	Strong transcription	NH-A	brain
49	chr11:9161800-9172200	Weak transcription	Right Atrium	heart
50	chr11:9161800-9174000	Strong transcription	Skeletal Muscle Male	skeletal muscle

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