Variant report

Variant	rs4975185
Chromosome Location	chr4:129445142-129445143
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:129443916..129449166-chr4:129482334..129486119,6	MCF-7	breast:
2	chr4:129444037..129452105-chr4:129473073..129478954,15	MCF-7	breast:
3	chr4:129444481..129446282-chr4:129446445..129448090,2	K562	blood:
4	chr4:129304978..129307825-chr4:129445122..129446888,2	MCF-7	breast:
5	chr4:129441725..129445424-chr4:129472669..129476774,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273077	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10518533	0.85[ASN][1000 genomes]
rs11733387	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11937124	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13115644	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1603886	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1603887	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17337491	1.00[ASW][hapmap]
rs2062456	1.00[ASW][hapmap];0.83[CEU][hapmap];0.82[GIH][hapmap];0.87[TSI][hapmap];0.81[AMR][1000 genomes]
rs2133465	1.00[ASW][hapmap]
rs4305531	1.00[ASW][hapmap]
rs4362840	1.00[ASW][hapmap];0.91[CEU][hapmap];0.91[GIH][hapmap];0.95[TSI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4975186	0.85[ASN][1000 genomes]
rs6534679	1.00[ASW][hapmap]
rs6534686	0.96[CEU][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6534687	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6534691	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6821679	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6840580	1.00[ASW][hapmap];0.82[GIH][hapmap];0.87[TSI][hapmap]
rs6849290	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7441245	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[GIH][hapmap];0.92[TSI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129425800-129445600	Weak transcription	Gastric	stomach
2	chr4:129437600-129447400	Enhancers	HUVEC	blood vessel
3	chr4:129439200-129449400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr4:129439200-129450000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr4:129439600-129445200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:129439600-129445400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr4:129439800-129445200	Weak transcription	HMEC	breast
8	chr4:129439800-129445200	Weak transcription	NHEK	skin
9	chr4:129439800-129446800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr4:129440000-129445200	Weak transcription	Adipose Nuclei	Adipose
11	chr4:129440200-129445600	Weak transcription	Esophagus	oesophagus
12	chr4:129440200-129450000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr4:129440400-129450000	Weak transcription	Fetal Stomach	stomach
14	chr4:129441000-129445400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:129441000-129450000	Weak transcription	Ovary	ovary
16	chr4:129441200-129445200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr4:129441200-129450000	Weak transcription	Psoas Muscle	Psoas
18	chr4:129441400-129445600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr4:129442200-129445400	Weak transcription	Fetal Muscle Leg	muscle
20	chr4:129442400-129445600	Weak transcription	Fetal Lung	lung
21	chr4:129442600-129446800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr4:129443200-129445200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:129443200-129445200	Weak transcription	Stomach Mucosa	stomach
24	chr4:129443200-129446800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr4:129443200-129446800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:129443400-129445200	Weak transcription	HSMMtube	muscle
27	chr4:129443400-129445400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:129443400-129445400	Weak transcription	NHLF	lung
29	chr4:129443400-129445600	Weak transcription	Small Intestine	intestine
30	chr4:129443400-129446200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr4:129443400-129446800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr4:129443400-129446800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr4:129443400-129450000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr4:129443600-129445200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:129443600-129445200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:129443600-129445200	Weak transcription	NH-A	brain
37	chr4:129443600-129445600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr4:129443600-129445600	Weak transcription	Left Ventricle	heart
39	chr4:129443600-129445600	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr4:129443600-129446800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr4:129443600-129447200	Weak transcription	Fetal Heart	heart
42	chr4:129443600-129448600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:129443600-129450200	Weak transcription	Lung	lung
44	chr4:129443800-129445400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr4:129443800-129445600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr4:129443800-129445600	Weak transcription	Pancreas	Pancrea
47	chr4:129444000-129445200	Weak transcription	Placenta	Placenta
48	chr4:129444000-129445400	Weak transcription	Aorta	Aorta
49	chr4:129444000-129445600	Weak transcription	Right Atrium	heart
50	chr4:129444000-129445600	Weak transcription	Right Ventricle	heart

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