Variant report

Variant	rs17113730
Chromosome Location	chr12:74936526-74936527
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:74936372-74936571	HepG2	liver:	n/a	n/a
2	POLR2A	chr12:74931110-74940575	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr12:74936287-74937111	HepG2	liver:	n/a	n/a
4	POLR2A	chr12:74934898-74938452	K562	blood:	n/a	n/a
5	GATA3	chr12:74936467-74936667	SH-SY5Y	brain:	n/a	n/a
6	POLR2A	chr12:74932912-74937655	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr12:74934609-74937472	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr12:74931035-74936789	IMR90	lung:	n/a	n/a
9	POLR2A	chr12:74931091-74937173	GM12891	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:74934644..74937630-chr12:74950063..74952451,3	MCF-7	breast:
2	chr12:74819585..74822514-chr12:74935420..74937697,2	K562	blood:
3	chr12:74933499..74938752-chr12:74938991..74943644,10	K562	blood:
4	chr12:74934893..74937822-chr12:74975475..74977928,2	MCF-7	breast:
5	chr12:74920482..74922543-chr12:74935619..74938584,2	MCF-7	breast:
6	chr12:74929601..74933992-chr12:74933997..74938801,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257386	TF binding region
ENSG00000257386	Chromatin interaction
ENSG00000253719	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10506696	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12298502	0.89[EUR][1000 genomes]
rs1389488	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17113550	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17113561	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17113703	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17113716	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17113736	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17113745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17113753	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17179283	1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17179465	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17772239	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605378	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2613897	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2613898	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4550284	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5002508	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039468	chr12:74080586-75000246	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv899293	chr12:74835107-74995760	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv899295	chr12:74854750-74984992	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv470303	chr12:74880668-74945356	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	n/a
5	nsv899296	chr12:74880668-74974630	Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74932800-74936600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:74933800-74937000	Weak transcription	Esophagus	oesophagus
3	chr12:74933800-74942800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:74934200-74936600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:74934200-74942000	Weak transcription	Ovary	ovary
6	chr12:74934400-74938400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:74934600-74937600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr12:74934600-74937600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:74934600-74940800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr12:74934800-74936800	Genic enhancers	Primary B cells from cord blood	blood
11	chr12:74935000-74936600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr12:74935000-74937000	Weak transcription	Brain Angular Gyrus	brain
13	chr12:74935200-74936600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:74935200-74936600	Enhancers	Brain Cingulate Gyrus	brain
15	chr12:74935200-74936800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:74935200-74936800	Weak transcription	Brain Hippocampus Middle	brain
17	chr12:74935200-74936800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr12:74935200-74937600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:74935200-74938200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:74935200-74940800	Weak transcription	Pancreas	Pancrea
21	chr12:74935200-74941000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr12:74935200-74941800	Weak transcription	Thymus	Thymus
23	chr12:74935200-74942200	Weak transcription	Psoas Muscle	Psoas
24	chr12:74935200-74942600	Weak transcription	Small Intestine	intestine
25	chr12:74935200-74943600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:74935200-74945000	Weak transcription	Left Ventricle	heart
27	chr12:74935400-74936600	Weak transcription	Brain Anterior Caudate	brain
28	chr12:74935400-74937000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:74935400-74937000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
30	chr12:74935400-74942600	Weak transcription	Fetal Intestine Small	intestine
31	chr12:74935600-74936600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:74935600-74936600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr12:74935600-74936800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr12:74935600-74936800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:74935600-74937200	Strong transcription	HMEC	breast
36	chr12:74935600-74937400	Weak transcription	K562	blood
37	chr12:74935600-74937600	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr12:74935600-74937600	Weak transcription	HUVEC	blood vessel
39	chr12:74935600-74937800	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr12:74935600-74938000	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr12:74935600-74939000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr12:74935600-74941000	Weak transcription	Fetal Stomach	stomach
43	chr12:74935600-74941400	Weak transcription	Adipose Nuclei	Adipose
44	chr12:74935600-74942000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr12:74935600-74942400	Weak transcription	NHDF-Ad	bronchial
46	chr12:74935600-74943200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr12:74935800-74936600	Genic enhancers	HUES48 Cell Line	embryonic stem cell
48	chr12:74935800-74936800	Weak transcription	NH-A	brain
49	chr12:74935800-74936800	Weak transcription	Osteobl	bone
50	chr12:74935800-74937000	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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