Variant report

Variant	rs10179682
Chromosome Location	chr2:208865130-208865131
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:208864606..208866514-chr2:208869636..208871841,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs13421092	0.92[AFR][1000 genomes]
rs13422757	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs6742094	1.00[YRI][hapmap];1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv875743	chr2:208688648-208940023	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208836000-208878400	Weak transcription	Fetal Kidney	kidney
2	chr2:208841600-208865200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr2:208842200-208866600	Weak transcription	Gastric	stomach
4	chr2:208842200-208867600	Weak transcription	Thymus	Thymus
5	chr2:208842200-208871200	Weak transcription	Esophagus	oesophagus
6	chr2:208842400-208866000	Weak transcription	Brain Germinal Matrix	brain
7	chr2:208842400-208867200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr2:208842400-208868200	Weak transcription	Dnd41	blood
9	chr2:208843600-208871200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:208852400-208867200	Weak transcription	Psoas Muscle	Psoas
11	chr2:208852400-208868000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr2:208853800-208868000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:208854200-208889400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:208856600-208882000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:208857000-208877200	Weak transcription	Pancreas	Pancrea
16	chr2:208857200-208888000	Weak transcription	Fetal Brain Male	brain
17	chr2:208858400-208871800	Weak transcription	HSMM	muscle
18	chr2:208858600-208870600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:208858600-208870600	Weak transcription	NHEK	skin
20	chr2:208858600-208871200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:208858800-208878600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:208859400-208867200	Weak transcription	Colon Smooth Muscle	Colon
23	chr2:208861000-208874800	Weak transcription	Small Intestine	intestine
24	chr2:208861400-208865200	Weak transcription	Osteobl	bone
25	chr2:208862000-208866600	Strong transcription	Fetal Muscle Leg	muscle
26	chr2:208862000-208866800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr2:208862000-208867400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr2:208862200-208867400	Strong transcription	Primary B cells from peripheral blood	blood
29	chr2:208862400-208866600	Strong transcription	Fetal Stomach	stomach
30	chr2:208862400-208867400	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr2:208862600-208866600	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr2:208862800-208866400	Strong transcription	Fetal Intestine Small	intestine
33	chr2:208862800-208867400	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr2:208862800-208872800	Weak transcription	HUVEC	blood vessel
35	chr2:208862800-208877400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:208863000-208866200	Weak transcription	Right Atrium	heart
37	chr2:208863200-208866800	Strong transcription	Fetal Intestine Large	intestine
38	chr2:208863400-208866000	Weak transcription	NHLF	lung
39	chr2:208863400-208866400	Weak transcription	Colonic Mucosa	Colon
40	chr2:208863400-208870600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:208863400-208870600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr2:208863800-208866000	Weak transcription	Fetal Heart	heart
43	chr2:208863800-208866000	Strong transcription	Placenta	Placenta
44	chr2:208864000-208866800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr2:208864000-208866800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:208864000-208867400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr2:208864200-208865600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:208864200-208866200	Strong transcription	Fetal Lung	lung
49	chr2:208864200-208866400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:208864200-208866400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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