Variant report

Variant	rs10193542
Chromosome Location	chr2:234316948-234316949
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10168794	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs10177112	1.00[JPT][hapmap]
rs10177761	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10181039	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1037451	1.00[JPT][hapmap]
rs10929208	1.00[JPT][hapmap]
rs11888993	0.85[EUR][1000 genomes]
rs11892545	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12467878	1.00[JPT][hapmap]
rs13384932	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs13391864	0.87[CEU][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes]
rs13392183	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13400471	0.80[EUR][1000 genomes]
rs13400563	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13403169	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs13414407	1.00[CEU][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13419277	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13425849	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs1542325	1.00[JPT][hapmap]
rs1901812	1.00[JPT][hapmap]
rs2124045	1.00[JPT][hapmap]
rs28444082	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28506837	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28588417	0.88[EUR][1000 genomes]
rs2924809	1.00[JPT][hapmap]
rs2924810	0.84[ASN][1000 genomes]
rs2971865	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2971866	0.84[ASN][1000 genomes]
rs2971873	0.84[ASN][1000 genomes]
rs3762591	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4047198	1.00[JPT][hapmap]
rs4047199	1.00[JPT][hapmap]
rs4663698	1.00[JPT][hapmap]
rs58685260	0.84[ASN][1000 genomes]
rs6713866	0.90[EUR][1000 genomes]
rs6716988	1.00[JPT][hapmap]
rs6720619	1.00[JPT][hapmap]
rs6726184	1.00[JPT][hapmap]
rs6745134	1.00[CEU][hapmap]
rs73115402	1.00[ASN][1000 genomes]
rs73117507	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73117519	0.93[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs73117551	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7422734	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs7572257	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs838557	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs838558	1.00[JPT][hapmap]
rs838561	1.00[JPT][hapmap]
rs838562	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234270000-234322400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:234277600-234322200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:234294600-234318800	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr2:234295800-234318200	Weak transcription	K562	blood
5	chr2:234297200-234317000	Weak transcription	Placenta	Placenta
6	chr2:234297200-234317000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr2:234297200-234317200	Weak transcription	Pancreas	Pancrea
8	chr2:234297200-234317400	Weak transcription	Brain Angular Gyrus	brain
9	chr2:234297200-234317400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:234297200-234318600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:234297200-234319000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:234297200-234319000	Weak transcription	Fetal Kidney	kidney
13	chr2:234297200-234319400	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:234297200-234322000	Weak transcription	Hela-S3	cervix
15	chr2:234297200-234322200	Weak transcription	Brain Anterior Caudate	brain
16	chr2:234298000-234317200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr2:234299200-234319200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:234299200-234319200	Weak transcription	NHEK	skin
19	chr2:234300000-234318200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:234301200-234319800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:234303000-234319000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:234305400-234317200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr2:234305400-234319000	Weak transcription	HSMMtube	muscle
24	chr2:234305400-234319200	Weak transcription	HSMM	muscle
25	chr2:234306400-234318000	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr2:234307200-234320200	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr2:234308200-234318600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:234308200-234318800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:234308400-234317000	Weak transcription	Right Atrium	heart
30	chr2:234308400-234317200	Weak transcription	Left Ventricle	heart
31	chr2:234308400-234322200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr2:234308600-234317000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:234308800-234328400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:234309200-234319000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr2:234309400-234317000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr2:234309400-234317400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr2:234309400-234319200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr2:234309400-234322000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:234309600-234317000	Weak transcription	Spleen	Spleen
40	chr2:234309600-234318200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr2:234309600-234322200	Weak transcription	Esophagus	oesophagus
42	chr2:234310800-234318600	Weak transcription	Right Ventricle	heart
43	chr2:234311200-234317000	Weak transcription	Lung	lung
44	chr2:234311200-234317200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:234311200-234317200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:234311800-234317000	Weak transcription	Fetal Intestine Small	intestine
47	chr2:234311800-234317200	Weak transcription	Colonic Mucosa	Colon
48	chr2:234311800-234317200	Weak transcription	Fetal Brain Female	brain
49	chr2:234312600-234327400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr2:234313600-234317000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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