Variant report

Variant	rs10175626
Chromosome Location	chr2:73430541-73430542
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:73429491..73432033-chr2:73440311..73443451,3	MCF-7	breast:
2	chr2:73421814..73423678-chr2:73429913..73432864,2	K562	blood:
3	chr2:73429115..73431039-chr2:73464836..73467648,3	MCF-7	breast:
4	chr2:73420895..73422888-chr2:73429762..73432345,2	MCF-7	breast:
5	chr2:73427265..73431524-chr2:73439833..73442659,3	K562	blood:

Variant related genes	Relation type
ENSG00000135632	Chromatin interaction
ENSG00000135624	Chromatin interaction

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

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

rs_ID	r²[population]
rs10048837	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10048838	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10189022	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10199536	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11893547	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11894720	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11894877	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11902788	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13386236	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13409784	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs13415504	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008829	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17008862	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17008864	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs2043092	1.00[JPT][hapmap]
rs2288632	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3820701	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs546576	1.00[JPT][hapmap]
rs56276021	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72809926	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7594590	1.00[CHB][hapmap];1.00[JPT][hapmap]

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	nsv1006801	chr2:73305056-73431711	Weak transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73427200-73430800	Weak transcription	HepG2	liver
2	chr2:73429000-73430600	Bivalent Enhancer	Liver	Liver
3	chr2:73429000-73430600	Bivalent Enhancer	Fetal Intestine Large	intestine
4	chr2:73429000-73430800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr2:73429000-73430800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr2:73429000-73430800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:73429200-73430600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:73429200-73430600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:73429200-73430600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:73429200-73430600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:73429200-73430600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:73429200-73430600	Bivalent Enhancer	Esophagus	oesophagus
13	chr2:73429200-73430800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr2:73429200-73430800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr2:73429200-73430800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
16	chr2:73429200-73430800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:73429200-73430800	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr2:73429200-73430800	Enhancers	Lung	lung
19	chr2:73429400-73430600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:73429400-73430600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:73429400-73430600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
22	chr2:73429400-73430600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:73429400-73430600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
24	chr2:73429400-73430600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
25	chr2:73429400-73430800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr2:73429400-73430800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
27	chr2:73429400-73430800	Enhancers	Gastric	stomach
28	chr2:73429400-73431000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
29	chr2:73429600-73430600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
30	chr2:73429600-73430600	Bivalent Enhancer	Spleen	Spleen
31	chr2:73429600-73430800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
32	chr2:73429800-73430600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
33	chr2:73429800-73430600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
34	chr2:73429800-73430600	Bivalent Enhancer	Fetal Stomach	stomach
35	chr2:73429800-73430600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
36	chr2:73429800-73430800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr2:73429800-73431800	Bivalent Enhancer	Placenta	Placenta
38	chr2:73430000-73430600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:73430000-73430800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr2:73430000-73430800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
41	chr2:73430000-73430800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
42	chr2:73430000-73430800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:73430200-73430600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
44	chr2:73430200-73430600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
45	chr2:73430200-73430600	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
46	chr2:73430200-73430600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr2:73430200-73430600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
48	chr2:73430200-73430600	Bivalent Enhancer	Left Ventricle	heart
49	chr2:73430200-73430600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
50	chr2:73430200-73430800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast

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