Variant report

Variant	rs17445923
Chromosome Location	chr11:35165966-35165967
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:35160374..35163354-chr11:35164253..35168964,4	K562	blood:
2	chr11:35163163..35167316-chr11:35171190..35174236,4	K562	blood:
3	chr11:35154466..35164106-chr11:35164280..35169830,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000026508	Chromatin interaction
ENSG00000255521	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1071695	0.80[CHB][hapmap]
rs11033013	0.80[CHB][hapmap]
rs12280381	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1570483	0.80[CHB][hapmap];0.87[MKK][hapmap]
rs16926995	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17367609	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17367744	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17445972	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1981153	0.94[ASN][1000 genomes]
rs1981154	0.96[ASN][1000 genomes]
rs3794118	0.96[ASN][1000 genomes]
rs3794125	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.90[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7938811	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7952493	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7952514	0.98[ASN][1000 genomes]
rs919041	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
3	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
4	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
5	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
6	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
7	esv2757437	chr11:35067482-35238578	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	esv2752912	chr11:35074167-35238578	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
9	nsv508623	chr11:35094933-35203363	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv541002	chr11:35101282-35224624	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	nsv541003	chr11:35122694-35261451	Genic enhancers Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
12	nsv541004	chr11:35122694-35297414	Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35160200-35170200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
2	chr11:35161200-35197400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
3	chr11:35161400-35166000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr11:35161400-35166800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr11:35161600-35167400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr11:35162000-35169000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:35162000-35169000	Enhancers	Stomach Mucosa	stomach
8	chr11:35163000-35167400	Transcr. at gene 5' and 3'	NHLF	lung
9	chr11:35163000-35168000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr11:35163200-35168200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
11	chr11:35163200-35169800	Enhancers	Small Intestine	intestine
12	chr11:35163400-35166000	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
13	chr11:35163400-35166200	Transcr. at gene 5' and 3'	Hela-S3	cervix
14	chr11:35163400-35166600	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr11:35163400-35166600	Enhancers	HUVEC	blood vessel
16	chr11:35163400-35168200	Enhancers	HSMMtube	muscle
17	chr11:35163400-35173000	Weak transcription	Left Ventricle	heart
18	chr11:35163400-35178400	Weak transcription	Psoas Muscle	Psoas
19	chr11:35163600-35166000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:35163600-35166600	Weak transcription	Liver	Liver
21	chr11:35163600-35166800	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr11:35163600-35170000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr11:35163800-35166000	Transcr. at gene 5' and 3'	HSMM	muscle
24	chr11:35163800-35166600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr11:35163800-35167600	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
26	chr11:35163800-35168000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr11:35163800-35183400	Genic enhancers	Primary B cells from peripheral blood	blood
28	chr11:35164000-35166400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr11:35164000-35166400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr11:35164000-35167400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr11:35164000-35167600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr11:35164000-35167800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:35164000-35168000	Enhancers	Spleen	Spleen
34	chr11:35164200-35166600	Weak transcription	Brain Hippocampus Middle	brain
35	chr11:35164200-35166600	Weak transcription	Right Ventricle	heart
36	chr11:35164200-35166800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr11:35164200-35166800	Enhancers	Pancreas	Pancrea
38	chr11:35164200-35167800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:35164400-35166400	Enhancers	Primary hematopoietic stem cells	blood
40	chr11:35164400-35167200	Enhancers	Colon Smooth Muscle	Colon
41	chr11:35164400-35167400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr11:35164400-35172200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr11:35164600-35166800	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr11:35164600-35166800	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr11:35164600-35168600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr11:35164800-35166000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:35164800-35166000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:35164800-35166200	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr11:35164800-35167400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr11:35164800-35168200	Transcr. at gene 5' and 3'	NHEK	skin

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