Variant report

Variant	rs4317540
Chromosome Location	chr8:102658532-102658533
allele	A/C
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:102658241..102659174-chr8:103209354..103210263,6	MCF-7	breast:
2	chr8:102658241..102659115-chr8:102982184..102983000,3	MCF-7	breast:
3	chr8:102652172..102654283-chr8:102658129..102660211,2	K562	blood:
4	chr8:102658229..102659095-chr8:103826592..103827138,2	MCF-7	breast:
5	chr8:102658411..102659082-chr8:103044751..103045545,2	MCF-7	breast:
6	chr8:102657037..102659278-chr8:102659929..102662288,2	MCF-7	breast:
7	chr8:102503159..102506071-chr8:102657015..102659448,3	MCF-7	breast:
8	chr8:102658165..102659183-chr8:103208962..103210318,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254024	Chromatin interaction
ENSG00000083307	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10955266	0.81[CEU][hapmap];0.84[GIH][hapmap];0.80[MEX][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes]
rs1111881	0.85[AFR][1000 genomes]
rs1125589	0.84[EUR][1000 genomes]
rs1892753	0.93[AFR][1000 genomes]
rs1892755	0.94[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs1892756	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1892757	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1917727	0.81[JPT][hapmap]
rs1917728	0.81[JPT][hapmap]
rs2387623	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs3824091	0.81[MEX][hapmap]
rs4734030	0.87[GIH][hapmap];0.82[LWK][hapmap];0.82[MEX][hapmap];0.80[AMR][1000 genomes]
rs56175710	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56277720	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59320315	0.86[ASN][1000 genomes]
rs6989650	0.81[MEX][hapmap]
rs7017592	0.84[EUR][1000 genomes]
rs7386202	0.84[ASN][1000 genomes]
rs755468	0.81[CEU][hapmap];0.84[GIH][hapmap];0.87[TSI][hapmap];0.83[EUR][1000 genomes]
rs7829633	0.86[ASN][1000 genomes]
rs7829786	0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3401576	chr8:102640273-102724495	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102644600-102663800	Weak transcription	Lung	lung
2	chr8:102644800-102674600	Weak transcription	Ovary	ovary
3	chr8:102648600-102663600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr8:102650600-102664400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr8:102650800-102662400	Strong transcription	H1 Cell Line	embryonic stem cell
6	chr8:102650800-102664600	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr8:102651200-102658800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr8:102651400-102681200	Weak transcription	Stomach Mucosa	stomach
9	chr8:102652200-102658800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr8:102653200-102658600	Weak transcription	Fetal Muscle Leg	muscle
11	chr8:102653200-102661000	Strong transcription	Placenta Amnion	Placenta Amnion
12	chr8:102654000-102658600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr8:102655000-102661800	Strong transcription	Fetal Intestine Small	intestine
14	chr8:102655200-102663800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:102655200-102669400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:102655600-102661800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:102655600-102664400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:102655600-102664400	Strong transcription	Duodenum Mucosa	Duodenum
19	chr8:102655800-102662000	Strong transcription	H9 Cell Line	embryonic stem cell
20	chr8:102656000-102658600	Strong transcription	Placenta	Placenta
21	chr8:102656400-102663800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:102656600-102660200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr8:102656600-102660800	Weak transcription	Colonic Mucosa	Colon
24	chr8:102657000-102659000	Weak transcription	Pancreas	Pancrea
25	chr8:102657000-102661600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr8:102657200-102660200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr8:102657200-102661600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr8:102657200-102668200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr8:102657800-102659200	Enhancers	Fetal Heart	heart
30	chr8:102657800-102659400	Enhancers	GM12878-XiMat	blood
31	chr8:102658000-102658800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:102658000-102658800	Weak transcription	Esophagus	oesophagus
33	chr8:102658000-102658800	Weak transcription	HMEC	breast
34	chr8:102658000-102660400	Weak transcription	Fetal Stomach	stomach
35	chr8:102658000-102661200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:102658200-102660200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr8:102658400-102659000	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr8:102658400-102659000	Enhancers	Stomach Smooth Muscle	stomach
39	chr8:102658400-102659200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:102658400-102659200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr8:102658400-102660600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr8:102658400-102661800	Strong transcription	Fetal Intestine Large	intestine
43	chr8:102658400-102661800	Strong transcription	Gastric	stomach
44	chr8:102658400-102663000	Strong transcription	NHEK	skin

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