Variant report

Variant	rs6999402
Chromosome Location	chr8:102612072-102612073
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:102584389..102586925-chr8:102611656..102613755,2	MCF-7	breast:
2	chr8:102611534..102613191-chr8:102616243..102617957,2	K562	blood:
3	chr8:102612038..102613685-chr8:102646133..102647980,2	MCF-7	breast:
4	chr8:102611417..102613191-chr8:102615722..102617957,2	K562	blood:
5	chr8:102564639..102566230-chr8:102610214..102613012,2	MCF-7	breast:
6	chr8:102512147..102516211-chr8:102611218..102613960,3	MCF-7	breast:
7	chr8:102612026..102615007-chr8:103875604..103877625,2	MCF-7	breast:
8	chr8:102497120..102519676-chr8:102608888..102627613,87	MCF-7	breast:
9	chr8:102595468..102600144-chr8:102610576..102613880,7	MCF-7	breast:
10	chr8:102503101..102510814-chr8:102611042..102623761,44	MCF-7	breast:
11	chr8:102595035..102599988-chr8:102610070..102614354,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000083307	Chromatin interaction
ENSG00000254024	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000253320	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10100945	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs10102534	0.96[EUR][1000 genomes]
rs10105717	1.00[CEU][hapmap];0.85[GIH][hapmap];0.97[TSI][hapmap];0.96[EUR][1000 genomes]
rs16867973	1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes]
rs16868083	0.88[CEU][hapmap];0.90[EUR][1000 genomes]
rs17477457	0.87[CEU][hapmap];0.94[EUR][1000 genomes]
rs1966249	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2387626	0.85[MEX][hapmap]
rs28498061	0.90[EUR][1000 genomes]
rs28657596	0.90[EUR][1000 genomes]
rs28712643	0.89[EUR][1000 genomes]
rs4507732	1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.92[EUR][1000 genomes]
rs6980991	0.96[EUR][1000 genomes]
rs6981506	0.82[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs7829364	1.00[CEU][hapmap];0.90[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	esv2757285	chr8:102609474-102649681	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2759635	chr8:102609474-102649681	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102552200-102620600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:102590600-102631600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr8:102590600-102635200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:102596000-102615000	Weak transcription	Stomach Mucosa	stomach
5	chr8:102597400-102616000	Weak transcription	Gastric	stomach
6	chr8:102597400-102620600	Weak transcription	Colonic Mucosa	Colon
7	chr8:102600600-102619200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr8:102601400-102612200	Weak transcription	Fetal Stomach	stomach
9	chr8:102601600-102616200	Weak transcription	Fetal Kidney	kidney
10	chr8:102604000-102614600	Weak transcription	Fetal Lung	lung
11	chr8:102607000-102616600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr8:102607800-102617000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:102609200-102616000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr8:102609800-102614400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr8:102611000-102612200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr8:102611000-102612600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:102611000-102612800	Weak transcription	Lung	lung
18	chr8:102611000-102613800	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr8:102611200-102612800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:102611200-102613000	Strong transcription	HMEC	breast
21	chr8:102611200-102613400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:102611400-102612800	Strong transcription	NHEK	skin
23	chr8:102611400-102613200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:102611400-102613400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:102611400-102613600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:102611400-102613800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:102611600-102612200	Strong transcription	Placenta Amnion	Placenta Amnion
28	chr8:102611600-102612400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:102611600-102612600	Strong transcription	Esophagus	oesophagus
30	chr8:102611600-102613000	Strong transcription	Fetal Intestine Large	intestine
31	chr8:102611600-102613000	Strong transcription	Pancreas	Pancrea
32	chr8:102611600-102613200	Strong transcription	Fetal Intestine Small	intestine
33	chr8:102611600-102617200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr8:102611800-102612800	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr8:102612000-102612200	Weak transcription	Placenta	Placenta
36	chr8:102612000-102612800	Strong transcription	H9 Cell Line	embryonic stem cell
37	chr8:102612000-102612800	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr8:102612000-102613000	Strong transcription	Duodenum Mucosa	Duodenum

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