Variant report

Variant	rs62309751
Chromosome Location	chr4:48731302-48731303
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs13141523	0.86[ASN][1000 genomes]
rs16861510	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1702797	0.80[AMR][1000 genomes]
rs2354937	0.86[ASN][1000 genomes]
rs2354938	0.86[ASN][1000 genomes]
rs2883561	0.85[ASN][1000 genomes]
rs4695396	0.94[ASN][1000 genomes]
rs4695404	0.82[ASN][1000 genomes]
rs62309745	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002674	chr4:48507608-49032909	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv537087	chr4:48507608-49032909	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1010923	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv537088	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1013762	chr4:48580484-49032909	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv537089	chr4:48580484-49032909	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv999203	chr4:48645887-48735512	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1792683	chr4:48686817-48764009	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv1795181	chr4:48686817-48764009	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv1793455	chr4:48686817-48859142	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv1010381	chr4:48701525-49309842	Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
12	esv1792281	chr4:48719424-48764009	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	esv1794245	chr4:48719424-48764009	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	esv1794757	chr4:48719424-48764009	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48720000-48737000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:48724000-48731800	Enhancers	Brain Hippocampus Middle	brain
3	chr4:48724400-48732800	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr4:48727200-48732200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr4:48727400-48731600	Enhancers	Brain Substantia Nigra	brain
6	chr4:48727400-48732400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:48727600-48733600	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr4:48727800-48731400	Enhancers	HMEC	breast
9	chr4:48727800-48732600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr4:48728000-48731600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr4:48728200-48731400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr4:48728400-48732000	Enhancers	K562	blood
13	chr4:48728600-48731400	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr4:48729400-48731600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:48729400-48732200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr4:48729600-48731600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr4:48729600-48731600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr4:48729600-48732600	Enhancers	Primary B cells from peripheral blood	blood
19	chr4:48729800-48731400	Enhancers	H9 Cell Line	embryonic stem cell
20	chr4:48729800-48731400	Enhancers	Brain Angular Gyrus	brain
21	chr4:48729800-48731600	Enhancers	Brain Anterior Caudate	brain
22	chr4:48730000-48731400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:48730000-48732400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:48730000-48734200	Weak transcription	Aorta	Aorta
25	chr4:48730000-48735800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr4:48730200-48731400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr4:48730200-48731400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr4:48730200-48738200	Weak transcription	HUVEC	blood vessel
29	chr4:48730200-48741200	Weak transcription	Thymus	Thymus
30	chr4:48730200-48744400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:48730400-48731400	Weak transcription	Stomach Mucosa	stomach
32	chr4:48730600-48731600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr4:48730600-48731600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
34	chr4:48730600-48731600	Enhancers	Left Ventricle	heart
35	chr4:48730600-48731600	Enhancers	Right Atrium	heart
36	chr4:48730800-48731400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr4:48730800-48731600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr4:48730800-48731600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr4:48730800-48731600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr4:48730800-48731600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:48730800-48731600	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr4:48730800-48731600	ZNF genes & repeats	Fetal Intestine Small	intestine
43	chr4:48730800-48731600	ZNF genes & repeats	Fetal Stomach	stomach
44	chr4:48730800-48731600	Enhancers	Gastric	stomach
45	chr4:48730800-48731600	Genic enhancers	Lung	lung
46	chr4:48730800-48731600	Enhancers	Pancreas	Pancrea
47	chr4:48730800-48731600	Enhancers	Right Ventricle	heart
48	chr4:48730800-48731600	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr4:48730800-48731800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr4:48730800-48732000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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