Variant report

Variant	rs17127019
Chromosome Location	chr12:39697881-39697882
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10876868	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876876	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10876886	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11171674	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11171675	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11171676	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11171720	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11171730	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11171789	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11171891	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11171901	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11171923	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11171938	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11830643	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11836755	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12228767	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12230604	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12424345	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1512936	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1512942	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1567739	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1828653	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1955314	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2388320	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3736466	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57756176	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57833783	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59695906	0.81[AMR][1000 genomes]
rs60792848	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137143	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7953548	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7964447	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7971515	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7979329	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7979444	0.81[ASN][1000 genomes]
rs958914	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899013	chr12:39567945-39732430	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv832375	chr12:39599362-39784722	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv832376	chr12:39633080-39808277	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv470286	chr12:39651893-39729700	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv558589	chr12:39667861-39768356	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv531527	chr12:39680812-40182822	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39682000-39699200	Weak transcription	Hela-S3	cervix
2	chr12:39685200-39714400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:39686400-39699600	Weak transcription	HMEC	breast
4	chr12:39686600-39722400	Weak transcription	GM12878-XiMat	blood
5	chr12:39686600-39725400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:39686800-39729800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:39686800-39738800	Weak transcription	Pancreas	Pancrea
8	chr12:39687200-39726400	Weak transcription	Fetal Intestine Small	intestine
9	chr12:39687600-39723800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr12:39688400-39709800	Weak transcription	Ovary	ovary
11	chr12:39688400-39724600	Weak transcription	Esophagus	oesophagus
12	chr12:39688400-39726400	Weak transcription	Aorta	Aorta
13	chr12:39688800-39698200	Weak transcription	Brain Substantia Nigra	brain
14	chr12:39689000-39698400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:39689000-39699600	Weak transcription	Fetal Heart	heart
16	chr12:39689000-39724000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:39689600-39699000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:39689600-39702200	Weak transcription	Right Ventricle	heart
19	chr12:39689600-39725400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:39690400-39703000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr12:39690400-39715200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:39690600-39701400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:39690600-39711600	Weak transcription	Placenta	Placenta
24	chr12:39690800-39700800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:39690800-39704400	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr12:39691800-39703400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr12:39693800-39705600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:39694000-39699800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr12:39694800-39699800	Weak transcription	HSMM	muscle
30	chr12:39695000-39726400	Weak transcription	Fetal Intestine Large	intestine
31	chr12:39695000-39726400	Weak transcription	HepG2	liver
32	chr12:39695200-39699400	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr12:39695200-39701200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr12:39695400-39700400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:39695400-39701600	Strong transcription	A549	lung
36	chr12:39695400-39701800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:39695400-39704400	Weak transcription	NHEK	skin
38	chr12:39695600-39699400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr12:39695600-39703200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr12:39695600-39724000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr12:39695600-39742000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:39695800-39698200	Strong transcription	K562	blood
43	chr12:39695800-39702400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr12:39695800-39703400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr12:39696000-39701400	Strong transcription	Liver	Liver
46	chr12:39696000-39701600	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr12:39696200-39698600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:39696200-39701800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:39696200-39705400	Weak transcription	HSMMtube	muscle
50	chr12:39696400-39699400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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