Variant report

Variant	rs12707777
Chromosome Location	chr8:104337848-104337849
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:104309902..104312898-chr8:104334770..104339269,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000247081	Chromatin interaction
ENSG00000164930	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10089343	1.00[ASN][1000 genomes]
rs10090069	0.83[ASN][1000 genomes]
rs10096207	0.83[ASN][1000 genomes]
rs10097121	0.83[ASN][1000 genomes]
rs10101517	0.83[ASN][1000 genomes]
rs10102413	1.00[ASN][1000 genomes]
rs10103739	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs10105195	0.83[ASN][1000 genomes]
rs10105450	0.83[ASN][1000 genomes]
rs10106795	1.00[ASN][1000 genomes]
rs10109642	0.83[ASN][1000 genomes]
rs10112450	0.83[ASN][1000 genomes]
rs10112941	0.83[ASN][1000 genomes]
rs10112952	0.83[ASN][1000 genomes]
rs10113160	0.83[ASN][1000 genomes]
rs10113367	0.83[ASN][1000 genomes]
rs1061196	0.83[ASN][1000 genomes]
rs11779349	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11785583	1.00[ASN][1000 genomes]
rs11985002	0.83[ASN][1000 genomes]
rs13255562	0.83[ASN][1000 genomes]
rs13257958	0.83[ASN][1000 genomes]
rs13258345	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13263611	1.00[ASN][1000 genomes]
rs13266347	0.83[ASN][1000 genomes]
rs13266642	0.83[ASN][1000 genomes]
rs13273192	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13278335	0.83[ASN][1000 genomes]
rs13282967	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17205821	1.00[ASN][1000 genomes]
rs17228538	0.83[ASN][1000 genomes]
rs17802518	0.83[ASN][1000 genomes]
rs28437723	0.83[ASN][1000 genomes]
rs28811720	0.83[ASN][1000 genomes]
rs28862349	0.83[ASN][1000 genomes]
rs2948449	1.00[ASN][1000 genomes]
rs3104026	1.00[ASN][1000 genomes]
rs34208282	1.00[ASN][1000 genomes]
rs35225263	0.83[ASN][1000 genomes]
rs35392014	0.83[ASN][1000 genomes]
rs57237927	0.83[ASN][1000 genomes]
rs6468866	1.00[ASN][1000 genomes]
rs6985718	0.83[ASN][1000 genomes]
rs6989714	0.83[ASN][1000 genomes]
rs6990501	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71520811	0.83[ASN][1000 genomes]
rs71520812	0.83[ASN][1000 genomes]
rs72675443	0.83[ASN][1000 genomes]
rs72675444	0.83[ASN][1000 genomes]
rs72675445	0.83[ASN][1000 genomes]
rs7464317	1.00[ASN][1000 genomes]
rs7820626	0.83[ASN][1000 genomes]
rs7839421	0.83[ASN][1000 genomes]
rs7845210	0.83[ASN][1000 genomes]
rs827528	1.00[ASN][1000 genomes]
rs827537	1.00[ASN][1000 genomes]
rs827538	1.00[ASN][1000 genomes]
rs827546	1.00[ASN][1000 genomes]
rs951826	1.00[ASN][1000 genomes]
rs973242	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1015965	chr8:104192086-104361108	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1023181	chr8:104298542-104366365	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1020476	chr8:104312212-104924482	Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv539704	chr8:104312212-104924482	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	nsv1016395	chr8:104327541-104473005	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 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	chr8:104311600-104343600	Weak transcription	Spleen	Spleen
2	chr8:104311800-104343600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:104312000-104343800	Weak transcription	Small Intestine	intestine
4	chr8:104312000-104348400	Weak transcription	Thymus	Thymus
5	chr8:104312000-104350200	Weak transcription	Esophagus	oesophagus
6	chr8:104312200-104339000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr8:104312400-104345000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr8:104312400-104345000	Weak transcription	Right Ventricle	heart
9	chr8:104312400-104350000	Weak transcription	Lung	lung
10	chr8:104312600-104342400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr8:104312600-104344800	Weak transcription	Fetal Intestine Small	intestine
12	chr8:104312600-104350000	Weak transcription	Colon Smooth Muscle	Colon
13	chr8:104317400-104354000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr8:104317600-104345800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr8:104318000-104345200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:104318200-104342600	Weak transcription	Brain Substantia Nigra	brain
17	chr8:104318600-104343400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr8:104319400-104347200	Weak transcription	Hela-S3	cervix
19	chr8:104320400-104343600	Weak transcription	Fetal Intestine Large	intestine
20	chr8:104321400-104342000	Weak transcription	Placenta	Placenta
21	chr8:104321400-104358800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr8:104321600-104350200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:104322800-104350200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:104324800-104348200	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr8:104325800-104342000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:104327800-104342000	Weak transcription	HSMM	muscle
27	chr8:104327800-104344800	Weak transcription	A549	lung
28	chr8:104328200-104344600	Weak transcription	HepG2	liver
29	chr8:104328200-104355800	Weak transcription	Gastric	stomach
30	chr8:104328200-104361200	Weak transcription	Pancreas	Pancrea
31	chr8:104328800-104345600	Weak transcription	Fetal Heart	heart
32	chr8:104329400-104338000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:104330400-104350200	Weak transcription	Psoas Muscle	Psoas
34	chr8:104330800-104339600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:104331400-104339000	Weak transcription	Colonic Mucosa	Colon
36	chr8:104331800-104347200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr8:104331800-104352000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr8:104332000-104348200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr8:104332600-104342000	Weak transcription	Ovary	ovary
40	chr8:104333000-104342000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr8:104333000-104342000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr8:104333000-104344800	Weak transcription	Fetal Stomach	stomach
43	chr8:104334200-104339600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:104334200-104342000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:104334200-104347000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr8:104334200-104348800	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr8:104335800-104347800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr8:104336000-104338000	Strong transcription	NH-A	brain
49	chr8:104336600-104338000	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr8:104336600-104338000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links