Variant report

Variant	rs11144988
Chromosome Location	chr9:79252222-79252223
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:79246595..79248978-chr9:79251250..79253057,2	K562	blood:
2	chr9:79250987..79254050-chr9:79259646..79261741,3	MCF-7	breast:
3	chr9:79250498..79252531-chr9:79257665..79259621,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000106772	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10869794	1.00[YRI][hapmap]
rs11144991	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11144999	1.00[YRI][hapmap]
rs12000064	1.00[YRI][hapmap]
rs7867080	1.00[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:71 , 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	chr9:79232800-79261400	Weak transcription	Colonic Mucosa	Colon
3	chr9:79234400-79257800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr9:79234400-79259600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr9:79236000-79257000	Weak transcription	Osteobl	bone
6	chr9:79236200-79252400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr9:79236200-79257400	Weak transcription	Adipose Nuclei	Adipose
8	chr9:79236200-79257600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr9:79238600-79261200	Strong transcription	HSMM	muscle
10	chr9:79239600-79254400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr9:79240000-79260800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr9:79241000-79260800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr9:79243400-79252800	Weak transcription	Primary B cells from cord blood	blood
14	chr9:79244000-79257200	Weak transcription	Fetal Thymus	thymus
15	chr9:79244600-79260200	Strong transcription	HSMMtube	muscle
16	chr9:79246800-79254800	Weak transcription	Fetal Heart	heart
17	chr9:79247600-79255400	Weak transcription	Brain Angular Gyrus	brain
18	chr9:79247600-79258200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr9:79247600-79258400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr9:79248200-79254800	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr9:79248400-79256600	Weak transcription	Aorta	Aorta
22	chr9:79248400-79257600	Weak transcription	Fetal Stomach	stomach
23	chr9:79248800-79257000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr9:79249200-79257200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr9:79249400-79254600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr9:79249600-79252800	Weak transcription	Fetal Intestine Small	intestine
27	chr9:79249600-79252800	Weak transcription	Small Intestine	intestine
28	chr9:79249600-79257200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr9:79249600-79257400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr9:79249600-79257800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr9:79249600-79257800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr9:79249600-79260000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr9:79249600-79261000	Weak transcription	NH-A	brain
34	chr9:79249600-79265400	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr9:79249600-79265600	Weak transcription	NHDF-Ad	bronchial
36	chr9:79249600-79265600	Weak transcription	NHLF	lung
37	chr9:79249800-79253000	Weak transcription	Brain Substantia Nigra	brain
38	chr9:79250000-79252800	Weak transcription	Brain Hippocampus Middle	brain
39	chr9:79250000-79253000	Weak transcription	Brain Anterior Caudate	brain
40	chr9:79250000-79253800	Weak transcription	Fetal Intestine Large	intestine
41	chr9:79250000-79257000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr9:79250400-79254600	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr9:79250600-79252400	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr9:79250800-79257200	Strong transcription	Stomach Smooth Muscle	stomach
45	chr9:79251200-79252400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr9:79251400-79252400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr9:79251800-79252600	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr9:79251800-79252600	Enhancers	Gastric	stomach
49	chr9:79251800-79252800	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr9:79251800-79253000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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