Variant report

Variant	rs4975119
Chromosome Location	chr4:79386188-79386189
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	chr4:79384669..79386505-chr4:79388751..79390880,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1027448	0.89[JPT][hapmap]
rs10518199	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1106663	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11098191	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11728668	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11933507	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11940606	0.89[JPT][hapmap]
rs12507613	0.82[ASN][1000 genomes]
rs12640857	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12643573	0.92[ASN][1000 genomes]
rs12646871	0.94[ASN][1000 genomes]
rs12649822	0.95[ASN][1000 genomes]
rs13114980	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13147631	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13434905	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17409828	0.94[ASN][1000 genomes]
rs17468080	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1905581	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1979760	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1995060	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2013759	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2054720	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28613397	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2867067	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4975116	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4975120	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6533688	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66516926	0.94[ASN][1000 genomes]
rs6845137	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72659023	0.96[ASN][1000 genomes]
rs7660664	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7661794	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs874769	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs923021	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]

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	nsv534024	chr4:78785189-79437403	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv1010782	chr4:79057839-79387207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79320000-79400200	Weak transcription	Psoas Muscle	Psoas
2	chr4:79333200-79391000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr4:79343200-79431800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr4:79354000-79391000	Weak transcription	Left Ventricle	heart
5	chr4:79354000-79401600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:79354200-79391000	Weak transcription	Fetal Kidney	kidney
7	chr4:79363200-79409800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:79363400-79455200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:79363800-79464200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:79365600-79406400	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:79365800-79388200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:79366200-79408200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr4:79369400-79397800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:79372600-79395000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr4:79374000-79397600	Weak transcription	Fetal Lung	lung
16	chr4:79374200-79398800	Weak transcription	Esophagus	oesophagus
17	chr4:79374600-79391000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:79375800-79391000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:79376200-79387400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:79376200-79390000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr4:79376200-79398600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:79376200-79411600	Weak transcription	Fetal Stomach	stomach
23	chr4:79377000-79396200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr4:79378600-79455800	Weak transcription	Right Ventricle	heart
25	chr4:79378800-79395800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:79379400-79387200	Weak transcription	Fetal Intestine Large	intestine
27	chr4:79379600-79386200	Weak transcription	Fetal Heart	heart
28	chr4:79379600-79389400	Weak transcription	Brain Angular Gyrus	brain
29	chr4:79379800-79393200	Weak transcription	Brain Anterior Caudate	brain
30	chr4:79380800-79389600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr4:79383600-79389800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr4:79384600-79387800	Strong transcription	H9 Cell Line	embryonic stem cell
33	chr4:79384600-79395600	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr4:79384600-79396600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr4:79384600-79405400	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr4:79384800-79405000	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr4:79384800-79405600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr4:79385000-79387800	Strong transcription	HepG2	liver
39	chr4:79385000-79467400	Weak transcription	Fetal Brain Male	brain
40	chr4:79385200-79387400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr4:79385200-79387800	Strong transcription	HSMMtube	muscle
42	chr4:79385400-79386400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr4:79385400-79387600	Strong transcription	Fetal Intestine Small	intestine
44	chr4:79385400-79387800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
45	chr4:79385800-79396600	Weak transcription	Pancreas	Pancrea
46	chr4:79385800-79398800	Weak transcription	Aorta	Aorta
47	chr4:79386000-79391800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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