Variant report

Variant	rs17681722
Chromosome Location	chr5:75954029-75954030
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:75952527..75955158-chr5:75956774..75959814,3	K562	blood:
2	chr5:75952316..75955488-chr5:75956755..75959814,4	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17748939	0.87[GIH][hapmap]
rs2287931	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs253093	1.00[GIH][hapmap]
rs3797438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3797440	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6876309	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.97[ASN][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	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1035135	chr5:75927027-76092058	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75882600-75969400	Weak transcription	Stomach Mucosa	stomach
2	chr5:75919200-75955400	Weak transcription	Fetal Kidney	kidney
3	chr5:75943800-75986600	Weak transcription	Gastric	stomach
4	chr5:75945200-75976200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr5:75945200-75976400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr5:75945200-76001000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr5:75945600-75976600	Strong transcription	Liver	Liver
8	chr5:75945800-75970400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:75946000-75955200	Weak transcription	Aorta	Aorta
10	chr5:75946000-75958600	Weak transcription	Fetal Stomach	stomach
11	chr5:75946000-75959000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:75946000-75967000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr5:75946200-75954200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr5:75946200-75954200	Weak transcription	Fetal Thymus	thymus
15	chr5:75946200-75954400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr5:75946200-75954400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr5:75946200-75954400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr5:75946200-75976000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:75946400-76001000	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr5:75946600-75975000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr5:75947000-75970600	Weak transcription	Small Intestine	intestine
22	chr5:75947800-75981800	Strong transcription	Primary T cells from cord blood	blood
23	chr5:75947800-75992000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr5:75948000-75976200	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr5:75948000-75976200	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr5:75948000-75976400	Strong transcription	Placenta	Placenta
27	chr5:75948000-76004600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr5:75948400-75967000	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr5:75948600-75958400	Strong transcription	Primary B cells from cord blood	blood
30	chr5:75948600-75958600	Weak transcription	Fetal Intestine Small	intestine
31	chr5:75949200-75954200	Weak transcription	HepG2	liver
32	chr5:75949200-75986600	Weak transcription	GM12878-XiMat	blood
33	chr5:75950200-75956200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr5:75950600-75969000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr5:75950800-75999400	Weak transcription	Ovary	ovary
36	chr5:75951000-75954400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr5:75951800-76001400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr5:75952400-75954400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr5:75952400-75956000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
40	chr5:75952600-75958800	Strong transcription	Primary hematopoietic stem cells	blood
41	chr5:75952800-75956000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr5:75952800-75956800	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr5:75952800-75975400	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr5:75953000-75956000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr5:75953000-75956000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr5:75953000-75956000	Strong transcription	Duodenum Mucosa	Duodenum
47	chr5:75953000-75956400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr5:75953000-75968400	Weak transcription	Fetal Intestine Large	intestine
49	chr5:75953000-75975400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr5:75953200-75954600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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