Variant report

Variant	rs62363209
Chromosome Location	chr5:75697439-75697440
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr5:75697427-75697548	MCF10A-Er-Src	breast:	n/a	n/a
2	RELA	chr5:75697432-75699503	GM15510	blood:	n/a	n/a
3	RELA	chr5:75697401-75699238	GM19099	blood:	n/a	n/a
4	RELA	chr5:75697432-75700778	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:75669499..75672050-chr5:75695299..75697873,2	MCF-7	breast:
2	chr5:75694312..75697795-chr5:75697903..75700396,3	K562	blood:
3	chr5:75682196..75684123-chr5:75696956..75698621,2	MCF-7	breast:

Variant related genes	Relation type
IQGAP2	TF binding region
ENSG00000145703	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10057706	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10059376	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10075621	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10462540	0.81[ASN][1000 genomes]
rs1122654	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11738470	0.82[ASN][1000 genomes]
rs11740038	0.82[ASN][1000 genomes]
rs12189455	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13357820	0.83[ASN][1000 genomes]
rs1984636	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2002858	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3951318	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55995866	0.82[ASN][1000 genomes]
rs62363210	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62363211	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62363252	0.83[AMR][1000 genomes]
rs6895725	0.83[ASN][1000 genomes]
rs875541	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs875543	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75685200-75697600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:75689200-75698200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:75689400-75697600	Weak transcription	K562	blood
4	chr5:75696000-75697800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr5:75696200-75697600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr5:75696400-75697600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:75696400-75697800	Enhancers	HepG2	liver
8	chr5:75696600-75697600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr5:75696800-75697600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr5:75696800-75697600	Enhancers	Primary B cells from peripheral blood	blood
11	chr5:75696800-75697600	Enhancers	Primary T cells from cord blood	blood
12	chr5:75696800-75697600	Enhancers	Primary T cells fromperipheralblood	blood
13	chr5:75696800-75697600	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr5:75696800-75697600	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr5:75696800-75697800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr5:75697000-75697600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
17	chr5:75697000-75697600	Enhancers	Primary hematopoietic stem cells	blood
18	chr5:75697000-75697600	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr5:75697000-75697600	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr5:75697000-75697600	Enhancers	Adipose Nuclei	Adipose
21	chr5:75697000-75697800	Enhancers	Placenta	Placenta
22	chr5:75697000-75697800	Enhancers	Pancreas	Pancrea
23	chr5:75697000-75697800	Enhancers	Spleen	Spleen
24	chr5:75697000-75698000	Enhancers	Fetal Thymus	thymus
25	chr5:75697000-75698000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr5:75697200-75697600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
27	chr5:75697200-75697600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr5:75697200-75697600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr5:75697200-75697600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr5:75697200-75697600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr5:75697200-75697800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr5:75697200-75697800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr5:75697200-75698200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr5:75697200-75698400	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr5:75697400-75697600	Enhancers	H1 Cell Line	embryonic stem cell
36	chr5:75697400-75697600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr5:75697400-75697600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr5:75697400-75697600	Enhancers	Liver	Liver
39	chr5:75697400-75697600	Enhancers	Duodenum Mucosa	Duodenum
40	chr5:75697400-75697600	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr5:75697400-75697600	Bivalent Enhancer	Thymus	Thymus
42	chr5:75697400-75697800	Enhancers	H9 Cell Line	embryonic stem cell
43	chr5:75697400-75697800	Enhancers	Colonic Mucosa	Colon
44	chr5:75697400-75697800	Enhancers	Fetal Intestine Small	intestine
45	chr5:75697400-75697800	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr5:75697400-75698000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
47	chr5:75697400-75698000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr5:75697400-75698200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr5:75697400-75698200	Flanking Active TSS	GM12878-XiMat	blood
50	chr5:75697400-75698400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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