Variant report

Variant	rs11144992
Chromosome Location	chr9:79263092-79263093
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:79254567..79257524-chr9:79261863..79264861,3	MCF-7	breast:
2	chr9:79262793..79264432-chr9:79264865..79266558,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10521475	1.00[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11144986	1.00[CEU][hapmap];0.92[CHB][hapmap];0.82[JPT][hapmap];0.86[YRI][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11144987	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11144996	1.00[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17062768	1.00[CEU][hapmap]
rs17062772	1.00[CEU][hapmap]
rs17062775	1.00[CEU][hapmap]
rs17062778	1.00[CEU][hapmap]
rs17062858	1.00[CEU][hapmap];0.92[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1854441	1.00[CEU][hapmap];0.92[CHB][hapmap];0.82[JPT][hapmap];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1952460	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2067501	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.97[ASN][1000 genomes]
rs499746	1.00[CEU][hapmap]
rs57389265	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs634063	0.86[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs637207	1.00[CEU][hapmap]
rs644893	1.00[CEU][hapmap]
rs7027074	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7028756	0.90[ASN][1000 genomes]
rs7038619	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7039310	0.92[CHB][hapmap];0.81[JPT][hapmap];0.91[ASN][1000 genomes]
rs7045505	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7847922	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7859873	1.00[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869152	chr9:78742197-79583399	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv931033	chr9:78850330-79366454	Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv893479	chr9:78971253-79275226	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv949417	chr9:79078703-79282589	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1040363	chr9:79246366-79711737	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	esv3345842	chr9:79260247-79263783	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:79225400-79265600	Weak transcription	Fetal Muscle Leg	muscle
2	chr9:79249600-79265400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr9:79249600-79265600	Weak transcription	NHDF-Ad	bronchial
4	chr9:79249600-79265600	Weak transcription	NHLF	lung
5	chr9:79252600-79278000	Weak transcription	Gastric	stomach
6	chr9:79255800-79265800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr9:79258000-79265600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr9:79258000-79270000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr9:79258200-79265600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr9:79258200-79265600	Weak transcription	Adipose Nuclei	Adipose
11	chr9:79258200-79265800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr9:79258200-79267800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr9:79259000-79269200	Weak transcription	Brain Substantia Nigra	brain
14	chr9:79259000-79278000	Weak transcription	Spleen	Spleen
15	chr9:79259200-79265600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr9:79259200-79265600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr9:79259400-79264800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr9:79259400-79264800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr9:79259400-79265200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr9:79259400-79265600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr9:79259400-79265600	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr9:79259800-79263200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr9:79259800-79263400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr9:79259800-79264800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr9:79259800-79264800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr9:79259800-79265600	Weak transcription	Primary B cells from cord blood	blood
27	chr9:79259800-79265600	Weak transcription	Stomach Mucosa	stomach
28	chr9:79260000-79265400	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr9:79260000-79282400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr9:79260200-79265400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr9:79260200-79265400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr9:79260200-79265600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr9:79260200-79266200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr9:79260400-79265600	Weak transcription	Small Intestine	intestine
35	chr9:79261000-79265800	Weak transcription	Ovary	ovary
36	chr9:79261600-79264800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr9:79261600-79265000	Strong transcription	HSMMtube	muscle
38	chr9:79261600-79265400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr9:79261600-79265600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr9:79261600-79265600	Weak transcription	NH-A	brain
41	chr9:79261800-79265200	Weak transcription	Osteobl	bone
42	chr9:79261800-79265400	Weak transcription	HUVEC	blood vessel
43	chr9:79261800-79265600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr9:79261800-79265600	Weak transcription	HMEC	breast
45	chr9:79262000-79263400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr9:79262000-79265600	Weak transcription	Fetal Thymus	thymus
47	chr9:79262400-79263200	Strong transcription	Fetal Stomach	stomach
48	chr9:79262400-79263600	Strong transcription	Aorta	Aorta
49	chr9:79262400-79265400	Strong transcription	HSMM	muscle
50	chr9:79262600-79263400	Strong transcription	Brain Anterior Caudate	brain

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