Variant report

Variant	rs2217132
Chromosome Location	chr8:126028902-126028903
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	chr8:126028631-126032113	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:126019244..126022552-chr8:126025772..126029082,3	MCF-7	breast:
2	chr8:126028018..126030385-chr8:126043461..126046019,3	MCF-7	breast:
3	chr8:126026777..126028360-chr8:126028490..126030149,2	MCF-7	breast:
4	chr8:126020062..126021682-chr8:126028449..126030167,2	MCF-7	breast:

Variant related genes	Relation type
SQLE	TF binding region
ENSG00000164961	Chromatin interaction
ENSG00000104549	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10086228	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10092712	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10095967	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10096319	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10097947	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10102066	0.83[CEU][hapmap]
rs10104486	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10107270	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10111425	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1019705	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10481152	0.83[CEU][hapmap]
rs1156712	0.83[CEU][hapmap]
rs12542195	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12546285	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12546767	1.00[YRI][hapmap]
rs12676128	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12682006	0.94[CEU][hapmap]
rs1319792	0.83[CEU][hapmap]
rs13248796	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13250545	1.00[YRI][hapmap]
rs13263702	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13264301	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13282919	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16900177	0.88[CEU][hapmap]
rs16900316	0.94[CEU][hapmap]
rs2033130	0.88[CEU][hapmap]
rs2288310	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288312	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2303522	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2303525	0.87[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2384921	1.00[CEU][hapmap];0.89[CHB][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28716650	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34818959	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3750236	0.82[CEU][hapmap]
rs3750237	0.83[CEU][hapmap]
rs3793447	0.94[CEU][hapmap]
rs4347009	1.00[CEU][hapmap]
rs4870932	0.83[CEU][hapmap]
rs4871568	0.93[CHB][hapmap];0.93[JPT][hapmap];0.85[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470326	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470327	0.83[CEU][hapmap]
rs6651230	1.00[CEU][hapmap];0.80[AMR][1000 genomes]
rs6989556	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991343	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7003069	0.94[CEU][hapmap];0.83[AMR][1000 genomes]
rs7007960	0.83[CEU][hapmap]
rs7008915	0.94[CEU][hapmap]
rs7813917	0.88[CEU][hapmap]
rs7832609	0.94[CEU][hapmap]
rs9297709	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs966945	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1030748	chr8:126012282-126137840	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv539743	chr8:126012282-126137840	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126011800-126034000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr8:126012400-126029200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:126012600-126029000	Weak transcription	Colonic Mucosa	Colon
4	chr8:126013200-126029200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:126013400-126029200	Weak transcription	Lung	lung
6	chr8:126013400-126029200	Weak transcription	Spleen	Spleen
7	chr8:126013400-126029400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr8:126013400-126040400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr8:126013400-126042600	Weak transcription	Right Ventricle	heart
10	chr8:126013600-126052200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr8:126013800-126029000	Weak transcription	Ovary	ovary
12	chr8:126014200-126029200	Weak transcription	Fetal Intestine Small	intestine
13	chr8:126014400-126029000	Weak transcription	Aorta	Aorta
14	chr8:126014400-126029000	Weak transcription	Fetal Stomach	stomach
15	chr8:126014400-126029200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:126014400-126029800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr8:126014400-126031400	Strong transcription	NHDF-Ad	bronchial
18	chr8:126014600-126044000	Weak transcription	Stomach Mucosa	stomach
19	chr8:126015400-126029400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:126015400-126036800	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr8:126015400-126037400	Strong transcription	A549	lung
22	chr8:126015400-126037600	Strong transcription	HSMM	muscle
23	chr8:126015400-126098000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr8:126015600-126029000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:126015600-126029000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr8:126015600-126031400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:126015600-126031600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:126015600-126037000	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr8:126015600-126039000	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr8:126015600-126041000	Strong transcription	Fetal Thymus	thymus
31	chr8:126015800-126037400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr8:126016000-126041400	Strong transcription	Liver	Liver
33	chr8:126016400-126036800	Strong transcription	K562	blood
34	chr8:126016600-126036400	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr8:126017000-126035400	Weak transcription	Colon Smooth Muscle	Colon
36	chr8:126017200-126036800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:126017600-126032400	Strong transcription	Fetal Muscle Leg	muscle
38	chr8:126017600-126037600	Strong transcription	Fetal Muscle Trunk	muscle
39	chr8:126017800-126036800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr8:126017800-126037400	Strong transcription	HUVEC	blood vessel
41	chr8:126017800-126038400	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr8:126018000-126037800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr8:126019200-126031600	Strong transcription	Osteobl	bone
44	chr8:126019600-126071800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr8:126021200-126029000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr8:126021200-126041200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:126021600-126029000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr8:126022000-126029400	Weak transcription	Small Intestine	intestine
49	chr8:126023200-126029200	Genic enhancers	HepG2	liver
50	chr8:126023400-126038400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links