Variant report

Variant	rs3119334
Chromosome Location	chr1:186377322-186377323
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:186376260..186377916-chr1:186380372..186382428,2	K562	blood:
2	chr1:186375983..186377916-chr1:186380424..186382428,2	K562	blood:
3	chr1:186370487..186373941-chr1:186374883..186377860,4	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10798039	1.00[AMR][1000 genomes]
rs10911846	1.00[AMR][1000 genomes]
rs12128607	1.00[AMR][1000 genomes]
rs12134934	1.00[AMR][1000 genomes]
rs12136874	1.00[AMR][1000 genomes]
rs12139138	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12139964	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3108517	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3115751	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3115753	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3115760	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3119332	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3119333	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3124809	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3124810	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3124812	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3124813	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3124815	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3131549	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3131553	1.00[AMR][1000 genomes]
rs74134828	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7526540	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv1822818	chr1:186301447-186441585	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1012164	chr1:186323867-186565995	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	esv2762201	chr1:186323879-186566007	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv872589	chr1:186354146-186390303	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	esv1824284	chr1:186358588-186441585	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 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	chr1:186345400-186390600	Weak transcription	Small Intestine	intestine
2	chr1:186345400-186398200	Weak transcription	Spleen	Spleen
3	chr1:186345800-186377400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:186346200-186380400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:186346200-186388400	Weak transcription	Colonic Mucosa	Colon
6	chr1:186346400-186388000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:186346400-186390000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:186348000-186382000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:186348600-186390200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:186355600-186379200	Strong transcription	K562	blood
11	chr1:186355600-186381800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:186360000-186379200	Weak transcription	NHLF	lung
13	chr1:186361600-186388400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr1:186362400-186405600	Weak transcription	Brain Angular Gyrus	brain
15	chr1:186362800-186378200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr1:186362800-186378400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr1:186362800-186405600	Weak transcription	Right Ventricle	heart
18	chr1:186363000-186378200	Weak transcription	Thymus	Thymus
19	chr1:186364600-186381600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:186365400-186390200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:186365600-186388000	Weak transcription	Brain Hippocampus Middle	brain
22	chr1:186365600-186395200	Weak transcription	Psoas Muscle	Psoas
23	chr1:186365800-186388000	Weak transcription	Aorta	Aorta
24	chr1:186365800-186388000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr1:186365800-186388000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr1:186366200-186393800	Weak transcription	Lung	lung
27	chr1:186366400-186388000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr1:186367000-186381000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:186367600-186378400	Weak transcription	Ovary	ovary
30	chr1:186367600-186390000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr1:186367800-186387800	Weak transcription	Fetal Brain Male	brain
32	chr1:186368200-186388000	Weak transcription	Brain Substantia Nigra	brain
33	chr1:186368600-186378000	Weak transcription	Left Ventricle	heart
34	chr1:186368600-186398200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:186368800-186387800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr1:186370400-186388200	Weak transcription	HSMMtube	muscle
37	chr1:186370600-186388000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr1:186371400-186383000	Strong transcription	HSMM	muscle
39	chr1:186371600-186381600	Strong transcription	Dnd41	blood
40	chr1:186371600-186383000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:186371600-186383200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:186371800-186378200	Weak transcription	Fetal Intestine Small	intestine
43	chr1:186372000-186378600	Weak transcription	Fetal Stomach	stomach
44	chr1:186372000-186389400	Weak transcription	Gastric	stomach
45	chr1:186372000-186391000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:186372000-186392000	Weak transcription	Esophagus	oesophagus
47	chr1:186372000-186398200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr1:186372000-186406000	Weak transcription	Pancreas	Pancrea
49	chr1:186373000-186378400	Weak transcription	GM12878-XiMat	blood
50	chr1:186373200-186383400	Strong transcription	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links