Variant report

Variant	rs2089253
Chromosome Location	chr4:76697211-76697212
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	chr4:76695835..76697622-chr4:76727743..76730489,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10031352	0.94[ASN][1000 genomes]
rs10856853	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11097117	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097121	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11556146	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11723767	0.91[CHD][hapmap];0.92[JPT][hapmap]
rs11727895	0.94[ASN][1000 genomes]
rs11734358	0.92[ASN][1000 genomes]
rs11935073	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12233780	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12498415	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs12505147	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12506101	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12508992	0.94[ASN][1000 genomes]
rs12511212	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12511575	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16996019	0.85[CHB][hapmap];0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs17000786	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17000794	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17000864	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.92[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs186563	0.94[ASN][1000 genomes]
rs28573275	0.94[ASN][1000 genomes]
rs28680723	0.94[ASN][1000 genomes]
rs324686	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs324688	0.94[ASN][1000 genomes]
rs324690	1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[ASN][1000 genomes]
rs324691	0.94[ASN][1000 genomes]
rs324693	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs324696	0.94[ASN][1000 genomes]
rs324697	0.94[ASN][1000 genomes]
rs324698	0.94[ASN][1000 genomes]
rs324700	0.94[ASN][1000 genomes]
rs324701	0.94[ASN][1000 genomes]
rs324703	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs324712	0.94[ASN][1000 genomes]
rs324713	0.94[ASN][1000 genomes]
rs324714	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs324719	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs324722	0.94[ASN][1000 genomes]
rs324723	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs324726	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs324727	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs324730	0.94[ASN][1000 genomes]
rs324731	0.94[ASN][1000 genomes]
rs324733	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs324735	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs324738	0.91[ASN][1000 genomes]
rs324740	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs34855591	0.87[ASN][1000 genomes]
rs4262008	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4610362	0.82[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]
rs60225400	0.83[ASN][1000 genomes]
rs60945555	0.83[ASN][1000 genomes]
rs61603278	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6531816	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs6531934	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6827016	0.94[ASN][1000 genomes]
rs6856162	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72858061	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7340822	0.85[CHB][hapmap]
rs7657198	0.94[ASN][1000 genomes]
rs7663617	0.85[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7680729	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7684778	0.82[ASN][1000 genomes]
rs7693127	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv1003516	chr4:76597112-76729576	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv537143	chr4:76597112-76729576	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76650800-76737800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:76652400-76725000	Weak transcription	Hela-S3	cervix
3	chr4:76668400-76698600	Weak transcription	Fetal Brain Male	brain
4	chr4:76671000-76739400	Weak transcription	Stomach Mucosa	stomach
5	chr4:76671600-76707800	Weak transcription	Right Ventricle	heart
6	chr4:76674800-76715200	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr4:76675000-76727400	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr4:76676400-76704800	Weak transcription	Aorta	Aorta
9	chr4:76676400-76704800	Weak transcription	Gastric	stomach
10	chr4:76676400-76730600	Weak transcription	Spleen	Spleen
11	chr4:76676800-76698400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr4:76676800-76698400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr4:76677000-76698800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr4:76677000-76710200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:76677000-76736200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:76685800-76719200	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr4:76685800-76738400	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr4:76686000-76698600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:76687600-76716200	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr4:76687800-76705600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:76688200-76738200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr4:76688600-76698400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:76689400-76706400	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr4:76689400-76724000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr4:76689600-76705800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr4:76689800-76709200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr4:76690400-76704000	Weak transcription	Fetal Heart	heart
28	chr4:76691200-76698800	Strong transcription	Liver	Liver
29	chr4:76691200-76713600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:76691200-76717000	Strong transcription	Placenta	Placenta
31	chr4:76691400-76697600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr4:76691400-76715400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:76691600-76698600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr4:76691600-76701600	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr4:76691600-76706000	Strong transcription	Fetal Muscle Trunk	muscle
36	chr4:76691600-76706400	Strong transcription	Osteobl	bone
37	chr4:76691600-76707200	Strong transcription	Duodenum Mucosa	Duodenum
38	chr4:76691600-76710000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:76691600-76710400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr4:76691800-76701000	Strong transcription	HepG2	liver
41	chr4:76691800-76701600	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr4:76691800-76702000	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr4:76691800-76708600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr4:76691800-76716800	Strong transcription	Fetal Intestine Large	intestine
45	chr4:76692000-76701600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr4:76692000-76706000	Strong transcription	Primary B cells from peripheral blood	blood
47	chr4:76692000-76706000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr4:76692000-76706200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr4:76692000-76709800	Strong transcription	Fetal Thymus	thymus
50	chr4:76692000-76717400	Strong transcription	Rectal Mucosa Donor 29	rectum

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