Variant report

Variant	rs7130795
Chromosome Location	chr11:74084219-74084220
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:74082494..74084345-chr11:74098312..74100057,2	MCF-7	breast:
2	chr11:74081100..74084420-chr11:74107396..74110816,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254631	Chromatin interaction
ENSG00000264402	Chromatin interaction
ENSG00000165434	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1063807	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];0.86[ASN][1000 genomes]
rs10793071	0.81[ASN][1000 genomes]
rs10898977	0.82[JPT][hapmap]
rs10898978	0.81[ASN][1000 genomes]
rs10898982	0.85[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.81[GIH][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11494249	0.91[ASN][1000 genomes]
rs12364246	0.85[ASN][1000 genomes]
rs12365592	0.84[ASN][1000 genomes]
rs1279293	0.86[CHB][hapmap];0.83[CHD][hapmap]
rs12804647	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1941817	0.91[CHD][hapmap];0.91[JPT][hapmap]
rs3193507	0.85[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs3867269	0.83[ASN][1000 genomes]
rs4306310	0.85[ASN][1000 genomes]
rs4641511	0.91[JPT][hapmap]
rs513678	0.83[ASN][1000 genomes]
rs568959	0.83[ASN][1000 genomes]
rs61901471	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs627354	0.91[CHD][hapmap];0.91[JPT][hapmap];0.87[MEX][hapmap]
rs634243	0.83[ASN][1000 genomes]
rs7106149	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7121767	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7931026	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7947390	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv1049915	chr11:74052264-74126319	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
7	nsv524552	chr11:74080107-74092403	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7130795	KRTAP5-11	cis	cerebellum	SCAN
rs7130795	HNRNPA1P40	cis	Thyroid	GTEx

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74037800-74086200	Weak transcription	Brain Anterior Caudate	brain
2	chr11:74038000-74084400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr11:74038200-74084400	Weak transcription	Colon Smooth Muscle	Colon
4	chr11:74038400-74084400	Weak transcription	Liver	Liver
5	chr11:74038400-74086200	Weak transcription	Adipose Nuclei	Adipose
6	chr11:74050800-74085800	Weak transcription	Colonic Mucosa	Colon
7	chr11:74068800-74094800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr11:74072000-74084400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr11:74072000-74090200	Weak transcription	Pancreas	Pancrea
10	chr11:74072000-74092200	Weak transcription	Lung	lung
11	chr11:74072000-74095800	Weak transcription	Aorta	Aorta
12	chr11:74072200-74085800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr11:74072200-74085800	Weak transcription	Ovary	ovary
14	chr11:74072200-74097000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:74072400-74087200	Weak transcription	Fetal Stomach	stomach
16	chr11:74072400-74093200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:74072400-74108000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr11:74072800-74098200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr11:74075400-74095000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr11:74076600-74086000	Weak transcription	Dnd41	blood
21	chr11:74076800-74085800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:74077000-74086200	Strong transcription	Fetal Thymus	thymus
23	chr11:74077400-74084400	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr11:74077400-74085200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr11:74078000-74088800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr11:74078200-74084400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr11:74078400-74087800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr11:74078600-74096200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr11:74079000-74092400	Weak transcription	Psoas Muscle	Psoas
30	chr11:74079200-74084400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr11:74079200-74087000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr11:74079200-74092200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:74079200-74094000	Weak transcription	Left Ventricle	heart
34	chr11:74079400-74086200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr11:74079400-74087000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr11:74079400-74092200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr11:74079400-74105000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr11:74079600-74084800	Weak transcription	Fetal Brain Male	brain
39	chr11:74079600-74086000	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr11:74079800-74087600	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr11:74079800-74088000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr11:74079800-74093800	Weak transcription	Fetal Lung	lung
43	chr11:74080200-74092000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr11:74080400-74086200	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr11:74080400-74087000	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr11:74080600-74098000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr11:74081000-74085000	Enhancers	Muscle Satellite Cultured Cells	--
48	chr11:74081000-74104000	Weak transcription	Fetal Brain Female	brain
49	chr11:74081400-74105000	Weak transcription	Thymus	Thymus
50	chr11:74081600-74095200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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