Variant report

Variant	rs2286976
Chromosome Location	chr4:15516389-15516390
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	chr4:15516086..15517605-chr4:15656256..15658628,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118564	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16892141	0.88[CHD][hapmap]
rs60131146	0.82[ASN][1000 genomes]
rs61339933	0.91[AFR][1000 genomes]
rs719993	0.84[CHD][hapmap]
rs7664843	0.86[CHB][hapmap];0.90[ASN][1000 genomes]
rs7682982	1.00[ASW][hapmap];0.83[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9990934	0.86[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2757923	chr4:15444617-15749520	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2759227	chr4:15444617-15749520	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15481600-15519000	Weak transcription	Gastric	stomach
2	chr4:15482200-15519800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr4:15482600-15516600	Weak transcription	Brain Angular Gyrus	brain
4	chr4:15482600-15526400	Weak transcription	HMEC	breast
5	chr4:15482800-15518200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr4:15487400-15570400	Weak transcription	Psoas Muscle	Psoas
7	chr4:15490400-15519400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:15490400-15539600	Weak transcription	Esophagus	oesophagus
9	chr4:15490600-15519000	Weak transcription	A549	lung
10	chr4:15491800-15516400	Weak transcription	NHLF	lung
11	chr4:15495600-15559400	Weak transcription	HSMMtube	muscle
12	chr4:15498200-15538400	Weak transcription	Fetal Heart	heart
13	chr4:15499000-15518200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:15499600-15516600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr4:15499600-15528400	Weak transcription	Pancreas	Pancrea
16	chr4:15500200-15516800	Weak transcription	Brain Germinal Matrix	brain
17	chr4:15500400-15523200	Weak transcription	NHEK	skin
18	chr4:15501400-15525400	Strong transcription	Stomach Smooth Muscle	stomach
19	chr4:15501600-15519000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr4:15502000-15539400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr4:15502400-15525600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr4:15502400-15539400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr4:15502800-15517600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr4:15502800-15549200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr4:15502800-15577600	Weak transcription	Right Ventricle	heart
26	chr4:15503400-15516800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr4:15503800-15519000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr4:15504000-15517600	Weak transcription	Brain Substantia Nigra	brain
29	chr4:15504000-15518800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:15504400-15519000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr4:15504400-15526800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr4:15505400-15516400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr4:15506600-15518200	Weak transcription	Fetal Brain Male	brain
34	chr4:15507600-15538200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr4:15507800-15518200	Weak transcription	Fetal Kidney	kidney
36	chr4:15508200-15538600	Weak transcription	Primary T cells from cord blood	blood
37	chr4:15508200-15556400	Weak transcription	Colonic Mucosa	Colon
38	chr4:15508400-15517000	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr4:15508400-15518800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr4:15508400-15530000	Weak transcription	NHDF-Ad	bronchial
41	chr4:15508400-15530400	Weak transcription	NH-A	brain
42	chr4:15508800-15545800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr4:15509200-15564400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr4:15509600-15553400	Weak transcription	HepG2	liver
45	chr4:15509800-15521400	Weak transcription	Hela-S3	cervix
46	chr4:15510400-15516600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr4:15510600-15519000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr4:15511600-15521800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr4:15511800-15516400	Weak transcription	HUVEC	blood vessel
50	chr4:15511800-15520000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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