Variant report

Variant	rs335312
Chromosome Location	chr4:62383315-62383316
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11722703	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11725619	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11734047	1.00[JPT][hapmap];0.88[YRI][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11734084	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs186750	1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1908438	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs2100593	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28716290	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs335299	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs335300	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs335306	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs335307	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335308	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs335310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs335311	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs335313	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs335314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs335315	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs335316	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs335317	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs335318	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs335319	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs335321	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs335323	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4860095	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9992329	1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9994628	0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9994639	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868844	chr4:62241702-62497248	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2753138	chr4:62271444-62442507	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1005770	chr4:62344379-62398798	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv537109	chr4:62344379-62398798	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv461377	chr4:62368762-62883431	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv594328	chr4:62368762-62883431	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:62373600-62385600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:62378000-62386400	Weak transcription	Stomach Mucosa	stomach
3	chr4:62380000-62385800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:62380800-62384200	Weak transcription	Brain Angular Gyrus	brain
5	chr4:62381000-62384200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr4:62381000-62386400	Weak transcription	Brain Anterior Caudate	brain
7	chr4:62381400-62386600	Weak transcription	HMEC	breast
8	chr4:62381800-62386200	Weak transcription	NHEK	skin
9	chr4:62382600-62385200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr4:62382600-62385600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr4:62382800-62383400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:62382800-62383400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:62382800-62383400	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr4:62382800-62383400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:62382800-62383400	Enhancers	Fetal Intestine Small	intestine
16	chr4:62383000-62383400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:62383000-62383400	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr4:62383000-62383400	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr4:62383000-62383400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr4:62383000-62383400	Enhancers	Pancreas	Pancrea
21	chr4:62383000-62383400	Enhancers	Placenta Amnion	Placenta Amnion
22	chr4:62383000-62383400	Enhancers	Right Ventricle	heart
23	chr4:62383000-62383600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr4:62383000-62383600	Enhancers	Gastric	stomach
25	chr4:62383200-62383400	Active TSS	H1 Cell Line	embryonic stem cell
26	chr4:62383200-62383400	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr4:62383200-62383400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr4:62383200-62383400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr4:62383200-62384400	Enhancers	Fetal Heart	heart
30	chr4:62383200-62397800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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