Variant report

Variant	rs7295585
Chromosome Location	chr12:26215797-26215798
allele	A/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	STAT3	chr12:26215475-26215919	MCF10A-Er-Src	breast:	n/a	chr12:26215613-26215625
2	POLR2A	chr12:26215650-26215840	MCF10A-Er-Src	breast:	n/a	n/a
3	MAX	chr12:26215602-26215973	HCT-116	colon:	n/a	n/a
4	MAX	chr12:26215514-26215942	SK-N-SH	brain:	n/a	n/a
5	MAX	chr12:26215549-26215964	SK-N-SH	brain:	n/a	n/a
6	STAT3	chr12:26215499-26215860	MCF10A-Er-Src	breast:	n/a	chr12:26215613-26215625
7	MAFK	chr12:26215426-26215849	Hela-S3	cervix:	n/a	chr12:26215653-26215668 chr12:26215654-26215674 chr12:26215656-26215672 chr12:26215802-26215817
8	MAX	chr12:26215531-26215986	HCT-116	colon:	n/a	n/a
9	FOS	chr12:26215504-26215808	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr12:26215499-26215848	MCF10A-Er-Src	breast:	n/a	n/a
11	MAFF	chr12:26215533-26215838	HepG2	liver:	n/a	chr12:26215651-26215669
12	MAX	chr12:26215586-26215930	Hela-S3	cervix:	n/a	n/a
13	MYC	chr12:26215584-26215931	MCF10A-Er-Src	breast:	n/a	n/a
14	MAFK	chr12:26215500-26215845	HepG2	liver:	n/a	chr12:26215653-26215668 chr12:26215654-26215674 chr12:26215656-26215672 chr12:26215802-26215817
15	USF2	chr12:26215584-26215890	Hela-S3	cervix:	n/a	n/a
16	MAFK	chr12:26215493-26215851	IMR90	lung:	n/a	chr12:26215653-26215668 chr12:26215654-26215674 chr12:26215656-26215672 chr12:26215802-26215817
17	STAT3	chr12:26215565-26215855	MCF10A-Er-Src	breast:	n/a	chr12:26215613-26215625
18	MYC	chr12:26215540-26216118	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:26212512..26214260-chr12:26214676..26217188,2	K562	blood:

Variant related genes	Relation type
RASSF8	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10459081	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs10771250	0.84[CHB][hapmap]
rs10771255	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs10842651	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs10842655	0.82[ASN][1000 genomes]
rs10842658	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10842659	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11048363	0.84[CHB][hapmap]
rs12369462	0.82[ASN][1000 genomes]
rs1513124	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1874351	0.85[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs1986802	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1994995	0.94[CHB][hapmap];0.86[JPT][hapmap]
rs2251618	0.81[CEU][hapmap];0.90[CHB][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs2271483	0.87[ASN][1000 genomes]
rs2643927	0.95[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs2643930	0.87[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs2729631	0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2729634	0.82[ASN][1000 genomes]
rs2729635	0.81[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs6487522	0.84[CHB][hapmap]
rs7132820	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7136804	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137379	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.95[ASN][1000 genomes]
rs7138742	0.89[CHB][hapmap];0.83[CHD][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap]
rs7139241	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7299421	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7956992	0.89[CHB][hapmap];0.87[JPT][hapmap]
rs7963754	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs7969486	0.95[CHB][hapmap];0.87[JPT][hapmap]
rs7979763	0.84[CHB][hapmap]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7295585	BHLHE41	cis	parietal	SCAN
rs7295585	FAR2	cis	parietal	SCAN
rs7295585	RASSF8	cis	parietal	SCAN
rs7295585	LRMP	cis	parietal	SCAN

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26192400-26228600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:26196400-26219800	Weak transcription	Fetal Kidney	kidney
3	chr12:26197200-26228600	Weak transcription	Aorta	Aorta
4	chr12:26199200-26220200	Weak transcription	Brain Substantia Nigra	brain
5	chr12:26199400-26221600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr12:26200800-26229000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr12:26201000-26220800	Weak transcription	Left Ventricle	heart
8	chr12:26201000-26223400	Weak transcription	Fetal Muscle Leg	muscle
9	chr12:26201200-26234600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:26201400-26221600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:26201600-26236200	Weak transcription	Right Ventricle	heart
12	chr12:26206800-26229600	Weak transcription	Ovary	ovary
13	chr12:26206800-26229800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr12:26207000-26218000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:26207000-26221400	Weak transcription	Fetal Stomach	stomach
16	chr12:26207200-26220400	Weak transcription	Brain Hippocampus Middle	brain
17	chr12:26207400-26223600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:26207600-26217400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:26207600-26221200	Weak transcription	Pancreas	Pancrea
20	chr12:26207800-26221400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:26207800-26221400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr12:26207800-26224000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr12:26207800-26224000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr12:26208000-26221000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr12:26208400-26234600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:26209000-26220400	Weak transcription	Lung	lung
27	chr12:26209600-26220200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr12:26209600-26220600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:26209600-26224800	Weak transcription	Brain Anterior Caudate	brain
30	chr12:26209600-26230400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:26209800-26220400	Weak transcription	Fetal Intestine Small	intestine
32	chr12:26211400-26227400	Weak transcription	Placenta	Placenta
33	chr12:26211600-26220200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:26211600-26223800	Weak transcription	Fetal Intestine Large	intestine
35	chr12:26211600-26234600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr12:26211800-26217800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:26211800-26230800	Weak transcription	Fetal Lung	lung
38	chr12:26212000-26216400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:26212000-26217800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:26212200-26215800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:26212200-26223400	Weak transcription	Colon Smooth Muscle	Colon
42	chr12:26214400-26224800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:26214800-26216000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:26215000-26216000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:26215000-26216000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:26215000-26216000	Enhancers	Muscle Satellite Cultured Cells	--
47	chr12:26215000-26216000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:26215000-26216000	Enhancers	Hela-S3	cervix
49	chr12:26215000-26216000	Enhancers	NHLF	lung
50	chr12:26215000-26216000	Enhancers	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links