Variant report

Variant	rs1988638
Chromosome Location	chr5:76149386-76149387
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	chr5:76149093..76150688-chr5:76152808..76155326,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12697859	0.89[EUR][1000 genomes]
rs13187905	0.88[EUR][1000 genomes]
rs2359422	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2359423	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2434660	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2460505	0.89[EUR][1000 genomes]
rs2460508	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6453256	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[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	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	esv3393424	chr5:76122720-76287744	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv2762526	chr5:76134777-76153934	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv34133	chr5:76138696-76239330	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76144400-76150600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:76145200-76153400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr5:76146000-76150600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:76146400-76149800	Weak transcription	Stomach Mucosa	stomach
5	chr5:76146600-76150600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:76146600-76150600	Weak transcription	Gastric	stomach
7	chr5:76146600-76152000	Weak transcription	Thymus	Thymus
8	chr5:76147000-76150600	Weak transcription	Spleen	Spleen
9	chr5:76147000-76151000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr5:76147400-76150000	Weak transcription	Small Intestine	intestine
11	chr5:76147400-76150600	Weak transcription	Placenta	Placenta
12	chr5:76147400-76150800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr5:76147400-76150800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr5:76147600-76150600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr5:76147600-76151000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr5:76147800-76154800	Enhancers	Primary hematopoietic stem cells	blood
17	chr5:76148000-76150400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr5:76148000-76150600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr5:76148000-76150600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr5:76148200-76150400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr5:76148200-76150600	Weak transcription	Fetal Thymus	thymus
22	chr5:76148400-76150600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr5:76148400-76150600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr5:76148400-76156800	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr5:76148600-76150400	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr5:76148600-76150600	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr5:76148600-76150800	Weak transcription	Primary B cells from peripheral blood	blood
28	chr5:76148800-76150000	Weak transcription	Fetal Intestine Small	intestine
29	chr5:76148800-76150800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr5:76148800-76152400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr5:76149000-76150000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr5:76149000-76150200	Weak transcription	Fetal Intestine Large	intestine
33	chr5:76149000-76150600	Weak transcription	Primary T cells from cord blood	blood
34	chr5:76149200-76149400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:76149200-76149600	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr5:76149200-76150200	Weak transcription	K562	blood

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