Variant report

Variant	rs2047731
Chromosome Location	chr5:75830867-75830868
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	chr5:75824972..75827134-chr5:75830080..75833927,3	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10041515	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10043064	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10044688	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10054114	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10065424	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10080190	0.82[EUR][1000 genomes]
rs10942784	0.80[AMR][1000 genomes]
rs13355881	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2202114	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2884654	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4235700	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4704326	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4704330	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4704332	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4704333	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6453232	0.80[AMR][1000 genomes]
rs7707801	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7713954	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9293687	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9686939	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022032	chr5:75785106-75914003	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv598679	chr5:75823965-75914729	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75806800-75834200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:75806800-75839200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:75820200-75832600	Weak transcription	Fetal Intestine Small	intestine
4	chr5:75822200-75831200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr5:75822200-75831200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr5:75823000-75838400	Weak transcription	Primary T cells from cord blood	blood
7	chr5:75823400-75832000	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr5:75824000-75831200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr5:75824000-75831400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:75824200-75834400	Weak transcription	Fetal Thymus	thymus
11	chr5:75825000-75831000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr5:75825800-75831400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr5:75826600-75834800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr5:75826800-75833000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:75826800-75834000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr5:75826800-75834600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr5:75826800-75840000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr5:75827000-75835000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr5:75827600-75834200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr5:75828400-75834000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:75828600-75833800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr5:75828600-75839000	Weak transcription	Lung	lung
23	chr5:75828800-75831400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr5:75829000-75831400	Weak transcription	Liver	Liver
25	chr5:75829000-75832600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr5:75829000-75836200	Weak transcription	K562	blood
27	chr5:75829000-75838000	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr5:75829200-75833600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr5:75829800-75831400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:75829800-75832800	Enhancers	HepG2	liver
31	chr5:75830000-75831400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr5:75830000-75831800	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr5:75830000-75841600	Enhancers	Stomach Mucosa	stomach
34	chr5:75830200-75833200	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr5:75830400-75831000	Enhancers	Duodenum Mucosa	Duodenum
36	chr5:75830400-75832400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr5:75830400-75833400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr5:75830600-75831000	Weak transcription	Placenta	Placenta
39	chr5:75830800-75831000	Enhancers	Gastric	stomach
40	chr5:75830800-75831600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr5:75830800-75831600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr5:75830800-75831600	Enhancers	Pancreas	Pancrea
43	chr5:75830800-75832200	Enhancers	H1 Cell Line	embryonic stem cell
44	chr5:75830800-75832200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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