Variant report

Variant	rs13434905
Chromosome Location	chr4:79354609-79354610
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:79352976..79355993-chr4:79356114..79359025,3	K562	blood:
2	chr4:79351128..79354681-chr4:79359469..79361827,3	K562	blood:
3	chr4:79347672..79350367-chr4:79353412..79355939,3	K562	blood:

Variant related genes	Relation type
ENSG00000138759	Chromatin interaction

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	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1106663	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11098191	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11728668	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11933507	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11940606	0.89[JPT][hapmap]
rs12507613	0.88[ASN][1000 genomes]
rs12640857	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12643573	0.99[ASN][1000 genomes]
rs12646871	0.89[ASN][1000 genomes]
rs12649822	0.97[ASN][1000 genomes]
rs13114980	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13147631	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17409828	0.89[ASN][1000 genomes]
rs17468080	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1905581	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1979760	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1995060	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2013759	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2054720	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28613397	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2867067	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4975116	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4975119	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4975120	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6533688	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66516926	0.89[ASN][1000 genomes]
rs6845137	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72659023	0.91[ASN][1000 genomes]
rs7660664	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7661794	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs874769	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs923021	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79320000-79400200	Weak transcription	Psoas Muscle	Psoas
2	chr4:79329000-79362000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:79332600-79362000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr4:79333200-79391000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr4:79335000-79355600	Weak transcription	Fetal Brain Male	brain
6	chr4:79339000-79374200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr4:79339400-79373000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr4:79339600-79360600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr4:79339600-79360600	Weak transcription	HMEC	breast
10	chr4:79339800-79370400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:79339800-79370400	Weak transcription	Fetal Lung	lung
12	chr4:79339800-79374800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:79340000-79356000	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr4:79340000-79374200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:79340400-79362800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr4:79341800-79372600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr4:79343200-79431800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr4:79344200-79370800	Weak transcription	Fetal Heart	heart
19	chr4:79344200-79375600	Weak transcription	Fetal Stomach	stomach
20	chr4:79348400-79378000	Weak transcription	Right Ventricle	heart
21	chr4:79349600-79362000	Weak transcription	Right Atrium	heart
22	chr4:79353000-79361600	Weak transcription	HepG2	liver
23	chr4:79353400-79354800	Enhancers	Fetal Intestine Large	intestine
24	chr4:79353800-79354800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:79353800-79354800	Enhancers	NHDF-Ad	bronchial
26	chr4:79353800-79355200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:79353800-79358000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:79354000-79355800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:79354000-79356400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:79354000-79360000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr4:79354000-79362000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:79354000-79362000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr4:79354000-79391000	Weak transcription	Left Ventricle	heart
34	chr4:79354000-79401600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:79354200-79359600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr4:79354200-79359800	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr4:79354200-79359800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr4:79354200-79363000	Weak transcription	Fetal Intestine Small	intestine
39	chr4:79354200-79391000	Weak transcription	Fetal Kidney	kidney
40	chr4:79354400-79355200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr4:79354400-79356800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:79354400-79358000	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr4:79354400-79360000	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr4:79354400-79385200	Weak transcription	Pancreas	Pancrea
45	chr4:79354600-79358400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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