Variant report

Variant	rs2631753
Chromosome Location	chr4:8455245-8455246
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2177327	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2386228	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2631725	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2631738	0.83[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2631749	0.94[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.81[LWK][hapmap];0.93[TSI][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2631761	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2688220	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35470507	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs871363	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[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	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv461220	chr4:8372944-8458394	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv593638	chr4:8372944-8458394	Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv829854	chr4:8402921-8506407	Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8443600-8455400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:8444200-8456800	Weak transcription	A549	lung
3	chr4:8444400-8455400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:8444600-8455800	Weak transcription	NHDF-Ad	bronchial
5	chr4:8444800-8458400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr4:8445000-8460800	Weak transcription	Psoas Muscle	Psoas
7	chr4:8445200-8461400	Weak transcription	Hela-S3	cervix
8	chr4:8446400-8457400	Strong transcription	Fetal Intestine Small	intestine
9	chr4:8446400-8463200	Strong transcription	Stomach Smooth Muscle	stomach
10	chr4:8446400-8473800	Strong transcription	Fetal Stomach	stomach
11	chr4:8446600-8463600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:8446600-8463600	Strong transcription	Thymus	Thymus
13	chr4:8446600-8464600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:8446600-8473400	Strong transcription	Dnd41	blood
15	chr4:8446600-8474000	Strong transcription	Fetal Muscle Leg	muscle
16	chr4:8446800-8456800	Strong transcription	Fetal Muscle Trunk	muscle
17	chr4:8446800-8463800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr4:8447000-8458200	Strong transcription	HepG2	liver
19	chr4:8447000-8461800	Strong transcription	Fetal Intestine Large	intestine
20	chr4:8447000-8464000	Strong transcription	Primary B cells from cord blood	blood
21	chr4:8447000-8474400	Strong transcription	Fetal Brain Female	brain
22	chr4:8447000-8475200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:8447000-8480200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:8447200-8457400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:8447200-8458000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:8447200-8458200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr4:8447200-8464200	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr4:8447200-8473000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr4:8447200-8480200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr4:8447400-8463600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:8447400-8474000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr4:8447400-8482200	Strong transcription	Primary T cells from cord blood	blood
33	chr4:8447600-8464000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr4:8447600-8472200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr4:8447600-8473400	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr4:8447800-8458400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr4:8447800-8459800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr4:8447800-8461200	Strong transcription	Liver	Liver
39	chr4:8447800-8461800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr4:8447800-8463400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr4:8447800-8463400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr4:8447800-8463600	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr4:8447800-8463800	Strong transcription	Brain Cingulate Gyrus	brain
44	chr4:8447800-8472800	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr4:8448000-8461400	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr4:8448000-8461600	Strong transcription	Duodenum Mucosa	Duodenum
47	chr4:8448000-8461800	Strong transcription	Primary B cells from peripheral blood	blood
48	chr4:8448000-8462000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:8448000-8463200	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr4:8448000-8463600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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