Variant report

Variant	rs930840
Chromosome Location	chr8:63922114-63922115
allele	C/T
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	chr8:63922063-63922784	HepG2	liver:	n/a	n/a
2	POLR2A	chr8:63921186-63922200	HepG2	liver:	n/a	n/a
3	POLR2A	chr8:63921001-63922934	HepG2	liver:	n/a	n/a
4	RUNX3	chr8:63921686-63922309	GM12878	blood:	n/a	n/a
5	TBP	chr8:63921799-63922803	HepG2	liver:	n/a	n/a
6	RUNX3	chr8:63921648-63922265	GM12878	blood:	n/a	n/a
7	POLR2A	chr8:63921657-63922158	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:63896894..63899189-chr8:63921841..63923926,2	MCF-7	breast:
2	chr8:63917789..63919405-chr8:63920362..63922527,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000240915	TF binding region

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1031552	0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10464903	1.00[CEU][hapmap];0.81[JPT][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10464904	1.00[CEU][hapmap];0.80[JPT][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10464905	1.00[CEU][hapmap];0.81[JPT][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10957265	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10957266	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10957268	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10957269	1.00[CEU][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10957270	1.00[CEU][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12056582	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12541047	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs12541370	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12541993	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12543020	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12543961	0.90[AMR][1000 genomes]
rs12545230	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12545245	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12546361	1.00[CEU][hapmap];0.80[JPT][hapmap]
rs12547772	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12547848	0.87[AMR][1000 genomes]
rs12548172	1.00[CEU][hapmap]
rs12548729	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12549172	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12675369	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12676348	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12677953	0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12677972	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12678042	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12678214	1.00[CEU][hapmap];0.81[JPT][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12680223	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12681795	0.81[EUR][1000 genomes]
rs12682112	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12682385	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16929963	0.92[AMR][1000 genomes]
rs16929988	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1963949	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2305558	0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3758147	1.00[CEU][hapmap];0.81[JPT][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3780128	0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3824333	0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4310197	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4317561	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4404907	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4521747	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4534128	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4737616	1.00[CEU][hapmap]
rs4737621	0.90[AMR][1000 genomes]
rs4737625	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4737626	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4737627	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4737629	0.82[AMR][1000 genomes]
rs4739028	0.88[AMR][1000 genomes]
rs4739031	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs4739032	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4739037	1.00[CEU][hapmap]
rs4739046	1.00[CEU][hapmap];0.81[JPT][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4739047	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72658339	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs72658340	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72658349	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72658350	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72658353	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72658359	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72658362	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72658367	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72658371	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72658375	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73684520	0.83[EUR][1000 genomes]
rs7818582	1.00[CEU][hapmap];0.81[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9643545	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018879	chr8:63281724-63937632	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1033527	chr8:63673915-64073735	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv6227	chr8:63892087-63936952	Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63906800-63926200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:63915600-63922200	Weak transcription	Fetal Kidney	kidney
3	chr8:63919200-63922800	Enhancers	Placenta	Placenta
4	chr8:63919400-63922600	Weak transcription	Thymus	Thymus
5	chr8:63919600-63924800	Enhancers	Primary B cells from peripheral blood	blood
6	chr8:63919800-63922400	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr8:63919800-63922400	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr8:63919800-63922600	Enhancers	Fetal Intestine Large	intestine
9	chr8:63919800-63922800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:63919800-63922800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:63919800-63922800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr8:63919800-63922800	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr8:63919800-63922800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:63919800-63922800	Enhancers	Esophagus	oesophagus
15	chr8:63919800-63922800	Enhancers	Fetal Muscle Leg	muscle
16	chr8:63919800-63923000	Enhancers	Primary T cells from cord blood	blood
17	chr8:63919800-63923000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr8:63919800-63923600	Enhancers	Primary hematopoietic stem cells	blood
19	chr8:63919800-63924800	Enhancers	Fetal Intestine Small	intestine
20	chr8:63920000-63922800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:63920000-63922800	Enhancers	Fetal Thymus	thymus
22	chr8:63920000-63922800	Enhancers	HMEC	breast
23	chr8:63920200-63922800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
24	chr8:63920400-63922200	Enhancers	Primary B cells from cord blood	blood
25	chr8:63920600-63923000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:63920600-63923200	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr8:63920800-63922400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
28	chr8:63920800-63922400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr8:63920800-63922400	Enhancers	Colonic Mucosa	Colon
30	chr8:63920800-63922800	Enhancers	Small Intestine	intestine
31	chr8:63920800-63923000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
32	chr8:63920800-63935600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:63921000-63922400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
34	chr8:63921000-63922800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:63921000-63923000	Flanking Active TSS	HepG2	liver
36	chr8:63921000-63923200	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr8:63921000-63923400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
38	chr8:63921200-63922200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
39	chr8:63921200-63922400	Enhancers	Adipose Nuclei	Adipose
40	chr8:63921200-63923400	Enhancers	Brain Germinal Matrix	brain
41	chr8:63921200-63923800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:63921400-63922200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:63921400-63922400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:63921400-63922400	Active TSS	Liver	Liver
45	chr8:63921400-63922800	Enhancers	HSMMtube	muscle
46	chr8:63921600-63923600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr8:63921800-63922200	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr8:63921800-63922400	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr8:63921800-63922600	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr8:63921800-63922600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links