Variant report

Variant	rs1489189
Chromosome Location	chr11:46531264-46531265
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46529319..46531334-chr11:46543160..46545950,2	MCF-7	breast:
2	chr11:46531259..46532944-chr11:46536139..46537822,2	K562	blood:
3	chr11:46530140..46532187-chr11:46533691..46535503,2	K562	blood:
4	chr11:46521738..46523612-chr11:46529396..46532330,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11038924	1.00[YRI][hapmap]
rs1466634	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs1489190	1.00[YRI][hapmap]
rs1489193	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs1873129	1.00[YRI][hapmap]
rs2029378	1.00[YRI][hapmap]
rs2087360	1.00[YRI][hapmap]
rs2864071	1.00[YRI][hapmap]
rs2864836	1.00[YRI][hapmap]
rs35935319	1.00[YRI][hapmap]
rs4376875	1.00[YRI][hapmap]
rs4550197	1.00[YRI][hapmap]
rs6485681	1.00[YRI][hapmap]
rs7928869	1.00[YRI][hapmap]
rs7942788	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs967754	1.00[YRI][hapmap]

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	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats 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 miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046990	chr11:46501436-46669636	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv541031	chr11:46501436-46669636	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv897321	chr11:46515902-46673344	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46497600-46537600	Weak transcription	A549	lung
2	chr11:46503400-46563000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:46509600-46537200	Strong transcription	Primary T cells from cord blood	blood
4	chr11:46514200-46535000	Weak transcription	Small Intestine	intestine
5	chr11:46515000-46535000	Weak transcription	HUVEC	blood vessel
6	chr11:46515800-46537600	Weak transcription	NHDF-Ad	bronchial
7	chr11:46517200-46550000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr11:46519400-46531600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr11:46521800-46534000	Weak transcription	Right Atrium	heart
10	chr11:46522400-46531800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:46522600-46534600	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr11:46524600-46534400	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr11:46527000-46535000	Weak transcription	HMEC	breast
14	chr11:46527600-46534000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:46527600-46537400	Weak transcription	NH-A	brain
16	chr11:46527800-46535200	Weak transcription	Pancreas	Pancrea
17	chr11:46527800-46535400	Weak transcription	Psoas Muscle	Psoas
18	chr11:46528000-46533800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr11:46528000-46534000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr11:46528000-46537400	Weak transcription	Osteobl	bone
21	chr11:46528200-46532400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr11:46528200-46533800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr11:46528200-46533800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr11:46528200-46534000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:46528200-46535000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr11:46528800-46534400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:46529200-46534600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:46529600-46537400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr11:46529800-46535000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr11:46529800-46542400	Weak transcription	NHLF	lung
31	chr11:46529800-46542600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:46530000-46532200	Weak transcription	Fetal Intestine Large	intestine
33	chr11:46530000-46532200	Weak transcription	Fetal Intestine Small	intestine
34	chr11:46530000-46532600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr11:46530000-46533800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr11:46530000-46534400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr11:46530000-46534600	Weak transcription	Fetal Brain Female	brain
38	chr11:46530000-46535000	Weak transcription	Brain Substantia Nigra	brain
39	chr11:46530000-46535200	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr11:46530000-46535200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr11:46530000-46535200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr11:46530000-46535600	Weak transcription	Brain Angular Gyrus	brain
43	chr11:46530000-46535600	Weak transcription	Brain Anterior Caudate	brain
44	chr11:46530000-46535600	Weak transcription	Esophagus	oesophagus
45	chr11:46530000-46535600	Weak transcription	Right Ventricle	heart
46	chr11:46530000-46537600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:46530000-46540600	Weak transcription	Gastric	stomach
48	chr11:46530000-46542200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr11:46530000-46542600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:46530200-46533000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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