Variant report

Variant	rs11265545
Chromosome Location	chr1:161033465-161033466
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr1:161033318-161033820	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:161014963..161016917-chr1:161031588..161033726,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000268154	TF binding region
ENSG00000158773	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12080904	0.83[AFR][1000 genomes]
rs12084390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12092166	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv3221	chr1:161008175-161052979	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161016400-161037800	Weak transcription	Colonic Mucosa	Colon
2	chr1:161017600-161034400	Strong transcription	Fetal Thymus	thymus
3	chr1:161018600-161033600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:161021400-161034000	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr1:161021600-161038400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:161024800-161038200	Weak transcription	Lung	lung
7	chr1:161026400-161039600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:161026600-161036600	Weak transcription	Placenta	Placenta
9	chr1:161026800-161035000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr1:161027200-161036200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
11	chr1:161027400-161037800	Weak transcription	Esophagus	oesophagus
12	chr1:161029000-161036000	Genic enhancers	Primary T cells fromperipheralblood	blood
13	chr1:161029200-161036600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:161029800-161036200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr1:161029800-161038000	Weak transcription	Stomach Mucosa	stomach
16	chr1:161030000-161034000	Strong transcription	Primary B cells from peripheral blood	blood
17	chr1:161030000-161034000	Weak transcription	Dnd41	blood
18	chr1:161030000-161036000	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr1:161030000-161036000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:161030000-161036800	Weak transcription	Spleen	Spleen
21	chr1:161030000-161046200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr1:161030800-161036200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr1:161031000-161034800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr1:161031800-161036400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
25	chr1:161032000-161036400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr1:161032200-161034000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:161032200-161034000	Weak transcription	GM12878-XiMat	blood
28	chr1:161032200-161034200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr1:161032200-161034200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr1:161032200-161034800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr1:161032400-161033800	Weak transcription	Primary B cells from cord blood	blood
32	chr1:161032400-161033800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr1:161032400-161034000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr1:161032400-161034200	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr1:161032400-161036600	Weak transcription	Thymus	Thymus
36	chr1:161033000-161033600	Weak transcription	Primary T cells from cord blood	blood
37	chr1:161033000-161033800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr1:161033000-161034000	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr1:161033200-161033800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr1:161033400-161033600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr1:161033400-161033800	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr1:161033400-161034200	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr1:161033400-161034600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:161033400-161035000	Genic enhancers	Primary T helper cells PMA-I stimulated	--

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