Variant report

Variant	rs11888556
Chromosome Location	chr2:172000916-172000917
allele	A/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	chr2:172000551-172001091	K562	blood:	n/a	n/a
2	ARID3A	chr2:172000757-172000969	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:171783394..171785153-chr2:171999161..172001599,2	K562	blood:

Variant related genes	Relation type
ENSG00000238567	TF binding region
ENSG00000115806	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11898754	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11900305	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60928633	0.86[AFR][1000 genomes]
rs7602589	1.00[MEX][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	nsv834456	chr2:171874210-172014659	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171957200-172010400	Weak transcription	HSMM	muscle
2	chr2:171973600-172011000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:171974000-172003200	Weak transcription	Fetal Intestine Small	intestine
4	chr2:171974000-172003200	Weak transcription	Fetal Thymus	thymus
5	chr2:171974200-172002400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:171974400-172003200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:171984600-172003000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:171985600-172006200	Weak transcription	Esophagus	oesophagus
9	chr2:171988200-172014400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:171989400-172007000	Weak transcription	Lung	lung
11	chr2:171990000-172016000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:171990600-172004800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:171990800-172001200	Weak transcription	Primary B cells from cord blood	blood
14	chr2:171993800-172001800	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr2:171994000-172002200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr2:171994000-172010400	Weak transcription	Thymus	Thymus
17	chr2:171994200-172002800	Weak transcription	Right Atrium	heart
18	chr2:171994200-172010400	Weak transcription	Ovary	ovary
19	chr2:171994800-172005400	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr2:171995000-172001000	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr2:171995200-172004400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:171995400-172012200	Weak transcription	Dnd41	blood
23	chr2:171996600-172001400	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr2:171996600-172006000	Weak transcription	Gastric	stomach
25	chr2:171996600-172015400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:171996600-172015400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:171996600-172015600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:171997000-172007600	Weak transcription	Placenta	Placenta
29	chr2:171997000-172010400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:171997400-172001800	Enhancers	Liver	Liver
31	chr2:171998000-172003200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:171998200-172001600	Weak transcription	Primary B cells from peripheral blood	blood
33	chr2:171998200-172001600	Weak transcription	HMEC	breast
34	chr2:171998200-172003200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr2:171998200-172003200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr2:171998200-172003400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr2:171998200-172003600	Weak transcription	Brain Angular Gyrus	brain
38	chr2:171998200-172004800	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr2:171998200-172007200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr2:171998200-172010400	Weak transcription	Psoas Muscle	Psoas
41	chr2:171998400-172002200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr2:171998400-172003200	Weak transcription	Adipose Nuclei	Adipose
43	chr2:171998400-172004600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:171998400-172014800	Weak transcription	Brain Anterior Caudate	brain
45	chr2:171998600-172001000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:171998600-172003200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr2:171998600-172004000	Weak transcription	Fetal Stomach	stomach
48	chr2:171998800-172003200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr2:171999000-172014800	Weak transcription	Osteobl	bone
50	chr2:171999200-172001800	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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