Variant report

Variant	rs17694584
Chromosome Location	chr12:2057287-2057288
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11062005	1.00[ASW][hapmap]
rs11062007	1.00[ASW][hapmap]
rs12368779	1.00[ASW][hapmap]
rs2013064	1.00[ASW][hapmap]
rs2429159	1.00[ASW][hapmap]
rs2906892	1.00[ASW][hapmap]
rs7315910	1.00[ASW][hapmap]
rs7961753	1.00[ASW][hapmap]
rs7967890	1.00[ASW][hapmap]
rs8181786	1.00[ASW][hapmap]

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	nsv948480	chr12:1776217-2284333	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv898598	chr12:1939252-2215448	Strong transcription Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1040370	chr12:2021395-2671017	Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv948400	chr12:2022411-2601363	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:2043200-2058200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:2045800-2058200	Weak transcription	HMEC	breast
3	chr12:2046200-2061400	Weak transcription	Small Intestine	intestine
4	chr12:2046400-2057400	Weak transcription	Left Ventricle	heart
5	chr12:2046400-2077200	Weak transcription	Psoas Muscle	Psoas
6	chr12:2046600-2057400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:2049200-2058600	Weak transcription	NHEK	skin
8	chr12:2049200-2082000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr12:2049400-2060600	Weak transcription	Fetal Brain Male	brain
10	chr12:2049400-2061400	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr12:2049400-2085600	Weak transcription	A549	lung
12	chr12:2049600-2074400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:2053800-2058000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr12:2054400-2057800	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr12:2054400-2058800	Strong transcription	Adipose Nuclei	Adipose
16	chr12:2054400-2062400	Strong transcription	Primary B cells from peripheral blood	blood
17	chr12:2054400-2065800	Strong transcription	Fetal Muscle Leg	muscle
18	chr12:2054400-2066400	Strong transcription	Liver	Liver
19	chr12:2054600-2058000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
20	chr12:2054600-2058200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:2054600-2058200	Strong transcription	Duodenum Mucosa	Duodenum
22	chr12:2054600-2058400	Strong transcription	Primary B cells from cord blood	blood
23	chr12:2054600-2058600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr12:2054600-2058800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:2054600-2058800	Strong transcription	Skeletal Muscle Male	skeletal muscle
26	chr12:2054600-2059000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:2054600-2059400	Strong transcription	Primary hematopoietic stem cells	blood
28	chr12:2054600-2059400	Strong transcription	Fetal Lung	lung
29	chr12:2054600-2062400	Strong transcription	Brain Hippocampus Middle	brain
30	chr12:2054600-2063200	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr12:2054600-2064400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:2054600-2064400	Strong transcription	Brain Inferior Temporal Lobe	brain
33	chr12:2054600-2065600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:2054600-2066000	Strong transcription	Dnd41	blood
35	chr12:2054600-2066200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:2054600-2066600	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr12:2054800-2057800	Strong transcription	Gastric	stomach
38	chr12:2054800-2058200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr12:2054800-2059000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:2054800-2059000	Strong transcription	Fetal Brain Female	brain
41	chr12:2054800-2060000	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr12:2054800-2062400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr12:2054800-2062400	Strong transcription	Ovary	ovary
44	chr12:2054800-2062600	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr12:2054800-2064200	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr12:2054800-2064400	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr12:2054800-2064400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr12:2054800-2064400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr12:2054800-2064600	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr12:2054800-2064600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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