Variant report

Variant	rs10942768
Chromosome Location	chr5:75697771-75697772
allele	C/G
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	POLR2A	chr5:75697542-75700781	GM12892	blood:	n/a	n/a
2	RELA	chr5:75697664-75699235	GM10847	blood:	n/a	n/a
3	POLR2A	chr5:75697442-75702072	GM12891	blood:	n/a	n/a
4	POLR2A	chr5:75697532-75701068	GM19193	blood:	n/a	n/a
5	MYC	chr5:75697463-75701163	NB4	blood:	n/a	chr5:75700187-75700198 chr5:75700187-75700198 chr5:75700188-75700197 chr5:75700188-75700197 chr5:75700186-75700196 chr5:75698525-75698535 chr5:75700188-75700198 chr5:75700187-75700198 chr5:75700187-75700196 chr5:75700186-75700199 chr5:75700187-75700197 chr5:75700188-75700198 chr5:75700186-75700199 chr5:75699920-75699930 chr5:75700187-75700198 chr5:75700187-75700197 chr5:75700184-75700199 chr5:75699034-75699041 chr5:75700223-75700233 chr5:75698561-75698570 chr5:75700188-75700197 chr5:75700191-75700199 chr5:75700007-75700017
6	POLR2A	chr5:75697495-75701043	GM12878	blood:	n/a	n/a
7	POLR2A	chr5:75697523-75700833	GM18505	blood:	n/a	n/a
8	POU2F2	chr5:75697526-75698082	GM12891	blood:	n/a	n/a
9	MTA3	chr5:75697461-75699312	GM12878	blood:	n/a	n/a
10	RELA	chr5:75697432-75699503	GM15510	blood:	n/a	n/a
11	POLR2A	chr5:75697579-75700775	GM18526	blood:	n/a	n/a
12	RELA	chr5:75697401-75699238	GM19099	blood:	n/a	n/a
13	POLR2A	chr5:75697464-75700887	GM19099	blood:	n/a	n/a
14	POLR2A	chr5:75697533-75700806	GM15510	blood:	n/a	n/a
15	POLR2A	chr5:75697771-75698123	HL-60	blood:	n/a	n/a
16	RELA	chr5:75697432-75700778	GM12891	blood:	n/a	n/a
17	RELA	chr5:75697605-75699336	GM19193	blood:	n/a	n/a
18	MAX	chr5:75697573-75699309	NB4	blood:	n/a	chr5:75698525-75698535 chr5:75699034-75699041 chr5:75698561-75698570
19	POLR2A	chr5:75697588-75700739	GM18951	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: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4314381	0.83[EUR][1000 genomes]
rs4496694	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6874833	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6888419	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6888428	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9293683	0.83[CEU][hapmap];0.84[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	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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75689200-75698200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:75696000-75697800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr5:75696400-75697800	Enhancers	HepG2	liver
4	chr5:75696800-75697800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr5:75697000-75697800	Enhancers	Placenta	Placenta
6	chr5:75697000-75697800	Enhancers	Pancreas	Pancrea
7	chr5:75697000-75697800	Enhancers	Spleen	Spleen
8	chr5:75697000-75698000	Enhancers	Fetal Thymus	thymus
9	chr5:75697000-75698000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr5:75697200-75697800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr5:75697200-75697800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:75697200-75698200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:75697200-75698400	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr5:75697400-75697800	Enhancers	H9 Cell Line	embryonic stem cell
15	chr5:75697400-75697800	Enhancers	Colonic Mucosa	Colon
16	chr5:75697400-75697800	Enhancers	Fetal Intestine Small	intestine
17	chr5:75697400-75697800	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr5:75697400-75698000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
19	chr5:75697400-75698000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr5:75697400-75698200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr5:75697400-75698200	Flanking Active TSS	GM12878-XiMat	blood
22	chr5:75697400-75698400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr5:75697400-75698400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
24	chr5:75697600-75697800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
25	chr5:75697600-75697800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr5:75697600-75697800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr5:75697600-75697800	Enhancers	Brain Anterior Caudate	brain
28	chr5:75697600-75697800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr5:75697600-75697800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr5:75697600-75697800	Enhancers	Fetal Intestine Large	intestine
31	chr5:75697600-75697800	Enhancers	Fetal Kidney	kidney
32	chr5:75697600-75697800	Bivalent Enhancer	Fetal Muscle Leg	muscle
33	chr5:75697600-75697800	Bivalent Enhancer	Fetal Stomach	stomach
34	chr5:75697600-75697800	Enhancers	K562	blood
35	chr5:75697600-75698000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr5:75697600-75698000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:75697600-75698000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr5:75697600-75698000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr5:75697600-75698000	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr5:75697600-75698000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
41	chr5:75697600-75698000	Enhancers	Thymus	Thymus
42	chr5:75697600-75698000	Flanking Bivalent TSS/Enh	Dnd41	blood
43	chr5:75697600-75698200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
44	chr5:75697600-75698200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:75697600-75698200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr5:75697600-75698200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr5:75697600-75698200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
48	chr5:75697600-75698200	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr5:75697600-75698200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr5:75697600-75698200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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