Variant report

Variant	rs10258344
Chromosome Location	chr7:108208587-108208588
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	chr7:108208427-108208962	Hela-S3	cervix:	n/a	n/a
2	JUN	chr7:108208251-108211889	K562	blood:	n/a	n/a
3	IRF1	chr7:108208327-108208678	K562	blood:	n/a	chr7:108208528-108208541 chr7:108208531-108208542 chr7:108208530-108208544
4	POLR2A	chr7:108208570-108208631	GM12878	blood:	n/a	n/a
5	CTCF	chr7:108208500-108208650	GM12875	blood:	n/a	n/a
6	POLR2A	chr7:108208569-108209035	K562	blood:	n/a	n/a
7	POLR2A	chr7:108199426-108221976	K562	blood:	n/a	n/a
8	ZNF384	chr7:108208330-108209032	K562	blood:	n/a	n/a
9	POLR2A	chr7:108208414-108208661	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr7:108208528-108211292	K562	blood:	n/a	n/a
11	IRF1	chr7:108208152-108210573	K562	blood:	n/a	chr7:108209590-108209602 chr7:108208528-108208541 chr7:108208531-108208542 chr7:108208530-108208544
12	POLR2A	chr7:108208545-108208888	MCF-7	breast:	n/a	n/a
13	MXI1	chr7:108207302-108212533	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr7:108208325-108211370	K562	blood:	n/a	n/a
15	POLR2A	chr7:108208446-108211787	MCF10A-Er-Src	breast:	n/a	n/a
16	JUND	chr7:108208408-108208968	K562	blood:	n/a	n/a
17	TCF7L2	chr7:108208482-108208962	PANC-1	pancreas:	n/a	n/a
18	POLR2A	chr7:108208427-108208626	HepG2	liver:	n/a	n/a
19	MAX	chr7:108208564-108208946	K562	blood:	n/a	n/a
20	MYC	chr7:108208454-108208961	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:108164038..108167949-chr7:108208349..108211666,8	MCF-7	breast:
2	chr7:108163122..108173185-chr7:108207236..108216619,40	K562	blood:
3	chr7:108159403..108171484-chr7:108200740..108214365,45	K562	blood:
4	chr7:108208069..108211100-chr7:112089167..112092388,3	K562	blood:
5	chr7:108162967..108170259-chr7:108208242..108216228,25	MCF-7	breast:

Variant related genes	Relation type
DNAJB9	TF binding region
ENSG00000135241	Chromatin interaction
ENSG00000006652	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10215124	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2041002	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2108254	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2190403	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2190404	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2214911	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2227272	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2240449	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs28667688	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[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	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
2	nsv817371	chr7:108199882-108649799	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108197600-108208600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:108197800-108208600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:108198600-108208600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr7:108198600-108208600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:108198600-108208600	Weak transcription	Fetal Brain Male	brain
6	chr7:108198600-108208600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:108198600-108208600	Weak transcription	Thymus	Thymus
8	chr7:108200400-108209400	Weak transcription	Spleen	Spleen
9	chr7:108201200-108208600	Weak transcription	Pancreas	Pancrea
10	chr7:108201600-108208600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:108201600-108208600	Weak transcription	Left Ventricle	heart
12	chr7:108201600-108208600	Weak transcription	Right Ventricle	heart
13	chr7:108202200-108208600	Weak transcription	Fetal Stomach	stomach
14	chr7:108202200-108209200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:108204000-108208600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr7:108205200-108209400	Weak transcription	Gastric	stomach
17	chr7:108205400-108209200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr7:108206400-108208600	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr7:108206400-108208600	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr7:108206400-108208600	Weak transcription	Fetal Intestine Large	intestine
21	chr7:108206400-108208600	Weak transcription	Placenta	Placenta
22	chr7:108206400-108208600	Weak transcription	Fetal Thymus	thymus
23	chr7:108206400-108209200	Weak transcription	Aorta	Aorta
24	chr7:108206400-108209200	Weak transcription	Fetal Muscle Leg	muscle
25	chr7:108206400-108209200	Weak transcription	Ovary	ovary
26	chr7:108206600-108209000	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr7:108206800-108208600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:108206800-108208600	Weak transcription	Adipose Nuclei	Adipose
29	chr7:108206800-108209000	Weak transcription	Fetal Kidney	kidney
30	chr7:108207000-108209200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr7:108207000-108209200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr7:108207200-108208800	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr7:108207200-108208800	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr7:108207200-108209000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr7:108207200-108209200	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr7:108207200-108209200	Enhancers	Fetal Heart	heart
37	chr7:108207400-108208600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr7:108207400-108208600	Enhancers	HSMM	muscle
39	chr7:108207400-108213400	Active TSS	GM12878-XiMat	blood
40	chr7:108207600-108208600	Enhancers	Brain Anterior Caudate	brain
41	chr7:108207600-108208800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr7:108207600-108212000	Active TSS	K562	blood
43	chr7:108207800-108208600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:108207800-108208800	Enhancers	Brain Substantia Nigra	brain
45	chr7:108207800-108209000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr7:108207800-108209000	Enhancers	Brain Hippocampus Middle	brain
47	chr7:108207800-108209600	Flanking Active TSS	Dnd41	blood
48	chr7:108208000-108208600	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr7:108208000-108208600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr7:108208000-108208600	Enhancers	Fetal Lung	lung

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