Variant report

Variant	rs13113896
Chromosome Location	chr4:22505130-22505131
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:22503270..22505334-chr4:22512826..22515443,2	MCF-7	breast:
2	chr4:22500720..22505653-chr4:22515837..22519334,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152990	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10009861	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11728370	0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12504167	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12648279	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13103323	0.88[ASN][1000 genomes]
rs13115916	0.84[ASN][1000 genomes]
rs13135791	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1381915	0.86[CHB][hapmap];0.85[ASN][1000 genomes]
rs1462987	0.86[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs1462988	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs16872759	0.91[CHB][hapmap];0.89[JPT][hapmap]
rs1841822	0.85[ASN][1000 genomes]
rs1841823	0.91[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs2045817	0.85[ASN][1000 genomes]
rs4495025	0.86[ASN][1000 genomes]
rs4631026	0.86[CHB][hapmap];0.85[ASN][1000 genomes]
rs4697015	0.85[ASN][1000 genomes]
rs4697018	0.95[CHB][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4697308	0.86[ASN][1000 genomes]
rs4697309	0.88[ASN][1000 genomes]
rs4697312	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57453276	0.81[ASN][1000 genomes]
rs6448162	0.87[ASN][1000 genomes]
rs6818676	0.86[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs7670164	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7685164	0.81[ASN][1000 genomes]
rs7692390	0.95[CHB][hapmap];0.88[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7697048	0.95[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][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	esv3349061	chr4:22379581-22887563	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv821634	chr4:22427074-22865948	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22485000-22506000	Weak transcription	Esophagus	oesophagus
2	chr4:22488600-22516000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:22490200-22508600	Weak transcription	Right Atrium	heart
4	chr4:22492800-22506000	Weak transcription	Lung	lung
5	chr4:22493800-22506200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:22497000-22515600	Weak transcription	Fetal Stomach	stomach
7	chr4:22497200-22506000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:22500000-22508200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:22500400-22510600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr4:22500400-22510600	Enhancers	HMEC	breast
11	chr4:22500600-22505600	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr4:22500600-22507800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr4:22500600-22510800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:22500800-22506600	Enhancers	Fetal Heart	heart
15	chr4:22500800-22507600	Weak transcription	Ovary	ovary
16	chr4:22501000-22505600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr4:22501000-22506000	Weak transcription	Brain Germinal Matrix	brain
18	chr4:22501200-22505200	Weak transcription	Brain Anterior Caudate	brain
19	chr4:22501400-22505400	Enhancers	Hela-S3	cervix
20	chr4:22501800-22506800	Enhancers	Pancreas	Pancrea
21	chr4:22501800-22508000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:22502000-22505400	Enhancers	A549	lung
23	chr4:22502000-22506200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:22502200-22506200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr4:22502200-22515600	Weak transcription	Primary T cells from cord blood	blood
26	chr4:22502600-22505200	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr4:22502600-22505400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:22502800-22505600	Enhancers	HUVEC	blood vessel
29	chr4:22502800-22506000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr4:22502800-22506200	Weak transcription	Fetal Muscle Leg	muscle
31	chr4:22502800-22507800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr4:22502800-22509800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr4:22502800-22515600	Weak transcription	Fetal Kidney	kidney
34	chr4:22503000-22505400	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr4:22503000-22507600	Weak transcription	Stomach Mucosa	stomach
36	chr4:22503200-22506000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr4:22503200-22508400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr4:22503200-22515600	Weak transcription	NHDF-Ad	bronchial
39	chr4:22503400-22505800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr4:22503400-22508200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:22503400-22508200	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr4:22503600-22505400	Enhancers	Colon Smooth Muscle	Colon
43	chr4:22503600-22505400	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr4:22503600-22505600	Enhancers	Placenta Amnion	Placenta Amnion
45	chr4:22503800-22505400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr4:22504000-22506000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr4:22504000-22506000	Weak transcription	Right Ventricle	heart
48	chr4:22504000-22506400	Enhancers	Fetal Lung	lung
49	chr4:22504000-22507200	Enhancers	NHEK	skin
50	chr4:22504000-22508600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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