Variant report

Variant	rs12332305
Chromosome Location	chr5:142426065-142426066
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10044668	1.00[EUR][1000 genomes]
rs10045128	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10051655	1.00[EUR][1000 genomes]
rs10056044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10074187	1.00[EUR][1000 genomes]
rs10076583	1.00[EUR][1000 genomes]
rs10080138	1.00[EUR][1000 genomes]
rs10155562	1.00[EUR][1000 genomes]
rs10214217	1.00[EUR][1000 genomes]
rs10477199	1.00[EUR][1000 genomes]
rs10477202	1.00[EUR][1000 genomes]
rs11951777	1.00[EUR][1000 genomes]
rs13356063	1.00[EUR][1000 genomes]
rs2108645	1.00[EUR][1000 genomes]
rs28688005	1.00[EUR][1000 genomes]
rs58817012	1.00[EUR][1000 genomes]
rs7702357	1.00[EUR][1000 genomes]
rs9324902	1.00[EUR][1000 genomes]
rs9324906	1.00[EUR][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	esv2830375	chr5:141991792-142449956	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv830511	chr5:142335447-142496694	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1025662	chr5:142345454-142498236	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv522807	chr5:142417658-142529960	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:142397000-142431000	Weak transcription	Small Intestine	intestine
2	chr5:142400000-142442600	Weak transcription	Spleen	Spleen
3	chr5:142403600-142445000	Weak transcription	Colonic Mucosa	Colon
4	chr5:142405400-142430800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr5:142405800-142430800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr5:142410200-142430400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr5:142410400-142428200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr5:142410400-142435800	Weak transcription	Dnd41	blood
9	chr5:142410600-142433800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr5:142410800-142434000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr5:142410800-142436200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr5:142411000-142429600	Weak transcription	Brain Hippocampus Middle	brain
13	chr5:142411000-142433600	Weak transcription	Primary B cells from peripheral blood	blood
14	chr5:142413400-142430600	Weak transcription	A549	lung
15	chr5:142416000-142430400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr5:142416800-142430800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr5:142417000-142430800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr5:142417000-142430800	Weak transcription	NHEK	skin
19	chr5:142417200-142431000	Weak transcription	Pancreas	Pancrea
20	chr5:142417600-142431200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:142417800-142428600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr5:142417800-142430400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr5:142418000-142428600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr5:142418000-142431000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:142418200-142430800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr5:142419200-142427800	Strong transcription	Placenta	Placenta
27	chr5:142419800-142429600	Weak transcription	GM12878-XiMat	blood
28	chr5:142420600-142430800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:142421000-142430800	Weak transcription	Brain Substantia Nigra	brain
30	chr5:142421600-142442600	Weak transcription	Esophagus	oesophagus
31	chr5:142421800-142430800	Weak transcription	Fetal Intestine Small	intestine
32	chr5:142421800-142431400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:142421800-142432400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr5:142421800-142432600	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr5:142421800-142436800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr5:142422000-142429600	Weak transcription	Psoas Muscle	Psoas
37	chr5:142422000-142430200	Weak transcription	Right Ventricle	heart
38	chr5:142422000-142430400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr5:142422000-142430600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr5:142422000-142430800	Weak transcription	Fetal Kidney	kidney
41	chr5:142422000-142430800	Weak transcription	Stomach Mucosa	stomach
42	chr5:142422000-142442600	Weak transcription	Lung	lung
43	chr5:142422200-142430800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr5:142422200-142430800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr5:142422200-142430800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr5:142422200-142430800	Weak transcription	HepG2	liver
47	chr5:142422200-142430800	Weak transcription	HSMM	muscle
48	chr5:142422200-142431000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr5:142422200-142431000	Weak transcription	Gastric	stomach
50	chr5:142422200-142431600	Weak transcription	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links