Variant report

Variant	rs678137
Chromosome Location	chr11:35066149-35066150
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:35050517..35052677-chr11:35065091..35067302,2	K562	blood:
2	chr11:35056767..35059035-chr11:35065294..35067500,2	K562	blood:
3	chr11:35058680..35060384-chr11:35065548..35067389,2	MCF-7	breast:

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1035731	0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1425804	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1477562	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1477563	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1559756	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2433161	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2433162	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2467603	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2469910	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2553787	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2553788	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2553789	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2553790	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2553791	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2553792	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2553793	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2553794	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2553795	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2553797	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2553800	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2553801	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2553802	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2553803	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2553805	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2553806	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2732520	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2732521	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2732522	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2732524	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2732526	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2732527	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2732528	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2732529	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2785153	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2785154	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2785155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2785156	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2785157	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2785159	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2785160	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2785161	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2785162	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2785163	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2785166	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2785167	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2785168	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2785169	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs471450	0.94[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs496623	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs497476	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs532282	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs536864	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs603820	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs622235	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs663993	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs666197	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7479679	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045837	chr11:34893992-35395190	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv430371	chr11:34975067-35111292	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	esv1826391	chr11:35000983-35098193	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv540999	chr11:35021936-35185471	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	esv2758263	chr11:35029933-35226784	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	esv2759818	chr11:35029933-35238578	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	nsv541000	chr11:35053717-35185471	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv541001	chr11:35053717-35224624	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs678137	EHF	cis	parietal	SCAN

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35052800-35066800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:35061000-35071800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr11:35061800-35068400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr11:35061800-35069400	Enhancers	Primary hematopoietic stem cells	blood
5	chr11:35061800-35072800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr11:35062400-35066600	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr11:35062600-35066400	Enhancers	Primary T cells from cord blood	blood
8	chr11:35062600-35066600	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr11:35062600-35066800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr11:35062600-35069800	Weak transcription	Placenta	Placenta
11	chr11:35062600-35070200	Weak transcription	Stomach Mucosa	stomach
12	chr11:35062600-35070400	Weak transcription	Esophagus	oesophagus
13	chr11:35062800-35066200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr11:35062800-35066600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr11:35062800-35066600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr11:35062800-35066800	Weak transcription	A549	lung
17	chr11:35062800-35067200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr11:35062800-35071800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:35062800-35073600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr11:35063000-35066200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr11:35063000-35071600	Weak transcription	K562	blood
22	chr11:35063200-35066600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:35063200-35069800	Enhancers	Fetal Thymus	thymus
24	chr11:35063400-35067200	Enhancers	Fetal Muscle Leg	muscle
25	chr11:35063800-35068600	Weak transcription	Lung	lung
26	chr11:35064000-35066600	Weak transcription	Spleen	Spleen
27	chr11:35064000-35067400	Enhancers	Stomach Smooth Muscle	stomach
28	chr11:35064000-35067600	Enhancers	Fetal Stomach	stomach
29	chr11:35064000-35077200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:35064200-35067000	Enhancers	Rectal Smooth Muscle	rectum
31	chr11:35064400-35072000	Weak transcription	HSMMtube	muscle
32	chr11:35064800-35066600	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr11:35064800-35067000	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr11:35065000-35067200	Enhancers	Brain Angular Gyrus	brain
35	chr11:35065000-35070400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr11:35065200-35066400	Enhancers	Adipose Nuclei	Adipose
37	chr11:35065200-35071000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr11:35065200-35073200	Enhancers	Primary T cells fromperipheralblood	blood
39	chr11:35065400-35069600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr11:35065400-35072600	Enhancers	Primary B cells from peripheral blood	blood
41	chr11:35065600-35066200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:35065600-35066200	Enhancers	Dnd41	blood
43	chr11:35065600-35066400	Enhancers	Fetal Brain Female	brain
44	chr11:35065600-35066400	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr11:35065600-35066400	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr11:35065600-35066800	Enhancers	Primary B cells from cord blood	blood
47	chr11:35065600-35067200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr11:35065600-35067200	Enhancers	Pancreas	Pancrea
49	chr11:35065600-35067600	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr11:35065600-35068000	Enhancers	Duodenum Mucosa	Duodenum

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