Variant report

Variant	rs7731480
Chromosome Location	chr5:75680088-75680089
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:75676963..75680213-chr5:75697591..75700759,3	K562	blood:
2	chr5:75670460..75672196-chr5:75679866..75681597,2	MCF-7	breast:
3	chr5:75679957..75682870-chr5:75683054..75686603,3	K562	blood:

Variant related genes	Relation type
ENSG00000145703	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16873342	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs58211357	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73132443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs890709	0.91[JPT][hapmap]

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	nsv870415	chr5:75526088-75738412	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv882206	chr5:75676658-75746813	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75669000-75682400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:75675400-75685800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr5:75676800-75680200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:75676800-75681600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr5:75676800-75681800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr5:75677000-75681800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr5:75677000-75684000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr5:75677000-75684800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:75677000-75684800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr5:75677200-75682000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr5:75677400-75689000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:75677600-75681400	Weak transcription	Placenta	Placenta
13	chr5:75677600-75681600	Enhancers	Primary T cells fromperipheralblood	blood
14	chr5:75677800-75691200	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr5:75678000-75681600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr5:75678200-75681200	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr5:75678200-75681600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr5:75678400-75681400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr5:75678800-75681400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr5:75678800-75686600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:75679000-75680600	Enhancers	Fetal Brain Male	brain
22	chr5:75679000-75681000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr5:75679000-75681000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr5:75679000-75681200	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr5:75679000-75681200	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr5:75679000-75681400	Enhancers	Primary T cells from cord blood	blood
27	chr5:75679000-75681400	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr5:75679000-75681600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr5:75679200-75681800	Enhancers	Primary hematopoietic stem cells	blood
30	chr5:75679400-75680800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr5:75679800-75680200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:75679800-75680400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:75679800-75680400	Enhancers	Lung	lung
34	chr5:75679800-75680400	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr5:75679800-75680400	Flanking Active TSS	HepG2	liver
36	chr5:75679800-75680600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr5:75679800-75680800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:75679800-75681000	Enhancers	Gastric	stomach
39	chr5:75679800-75682800	Enhancers	Stomach Mucosa	stomach
40	chr5:75679800-75683200	Enhancers	Fetal Thymus	thymus
41	chr5:75679800-75684200	Enhancers	Pancreas	Pancrea
42	chr5:75679800-75685200	Enhancers	Liver	Liver
43	chr5:75680000-75680400	Enhancers	H9 Cell Line	embryonic stem cell
44	chr5:75680000-75680400	Enhancers	K562	blood
45	chr5:75680000-75680600	Weak transcription	Esophagus	oesophagus
46	chr5:75680000-75681200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr5:75680000-75681400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr5:75680000-75685000	Weak transcription	Fetal Brain Female	brain

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