Variant report

Variant	rs6730114
Chromosome Location	chr2:183790883-183790884
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10187684	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10204853	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1022337	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs10497617	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10931052	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931053	0.94[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931055	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11889337	0.81[ASN][1000 genomes]
rs11899644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12470377	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12611998	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12612383	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12617567	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12992059	0.81[ASN][1000 genomes]
rs12992669	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12994001	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs13000008	0.85[ASN][1000 genomes]
rs13009031	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs13010139	0.81[ASN][1000 genomes]
rs13409111	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1400130	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16823896	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs16823906	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16823931	0.81[ASN][1000 genomes]
rs16823936	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2138486	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2368351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2675048	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2675049	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2675051	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2675076	0.90[ASN][1000 genomes]
rs2705741	1.00[JPT][hapmap]
rs2705748	0.90[ASN][1000 genomes]
rs34192739	0.90[ASN][1000 genomes]
rs34254952	0.90[ASN][1000 genomes]
rs34644467	0.90[ASN][1000 genomes]
rs34873881	0.90[ASN][1000 genomes]
rs34930236	0.90[ASN][1000 genomes]
rs35318802	0.81[ASN][1000 genomes]
rs35368327	0.90[ASN][1000 genomes]
rs35488919	0.81[ASN][1000 genomes]
rs35566709	0.81[ASN][1000 genomes]
rs35628169	0.81[ASN][1000 genomes]
rs35720425	0.90[ASN][1000 genomes]
rs35971883	0.90[ASN][1000 genomes]
rs3791246	1.00[JPT][hapmap]
rs4255929	0.88[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4341895	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4389291	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4392211	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4414644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4427983	0.81[AMR][1000 genomes]
rs4666603	0.91[EUR][1000 genomes]
rs4666873	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4666876	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4666881	0.81[ASN][1000 genomes]
rs4666882	0.81[ASN][1000 genomes]
rs55739115	0.90[ASN][1000 genomes]
rs60326110	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60543070	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62190104	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6434000	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6434001	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66829551	0.90[ASN][1000 genomes]
rs6714190	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6718462	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6726085	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6730183	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6732015	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6735144	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6735651	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6745341	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6761953	0.81[ASN][1000 genomes]
rs67966058	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71427864	0.85[ASN][1000 genomes]
rs73042165	0.81[ASN][1000 genomes]
rs73980539	0.90[ASN][1000 genomes]
rs7510	0.81[AMR][1000 genomes]
rs7566668	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7589630	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7597884	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7599011	0.81[ASN][1000 genomes]
rs7605639	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7607857	0.81[ASN][1000 genomes]
rs9288088	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs9333279	0.81[AMR][1000 genomes]
rs9333280	0.94[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9789450	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2757842	chr2:183437700-183835084	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2759104	chr2:183437700-183835084	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv818096	chr2:183701588-183827018	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	esv3693446	chr2:183785598-183833514	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	3 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	chr2:183757400-183797800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:183765200-183792800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:183765600-183805200	Weak transcription	Gastric	stomach
4	chr2:183768600-183811600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:183769800-183811800	Weak transcription	Small Intestine	intestine
6	chr2:183772400-183791000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:183772400-183799200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:183772400-183811800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:183773400-183866000	Weak transcription	Colonic Mucosa	Colon
10	chr2:183773400-183877800	Weak transcription	Stomach Mucosa	stomach
11	chr2:183773600-183793000	Weak transcription	Fetal Brain Male	brain
12	chr2:183775600-183833000	Weak transcription	Pancreas	Pancrea
13	chr2:183779000-183792800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:183780000-183792800	Weak transcription	Psoas Muscle	Psoas
15	chr2:183780000-183807000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr2:183780400-183792400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr2:183780400-183800800	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:183780400-183874800	Weak transcription	Esophagus	oesophagus
19	chr2:183780600-183791000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:183780600-183792800	Weak transcription	Ovary	ovary
21	chr2:183780800-183811200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:183781000-183798200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:183781200-183791000	Weak transcription	NHLF	lung
24	chr2:183781200-183798200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr2:183781200-183805800	Weak transcription	Fetal Heart	heart
26	chr2:183781400-183792200	Weak transcription	Hela-S3	cervix
27	chr2:183781400-183793000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:183782200-183795400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:183782200-183814200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr2:183782400-183794600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:183783000-183799600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:183784600-183804400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:183784800-183811400	Strong transcription	Fetal Intestine Large	intestine
34	chr2:183785000-183791400	Strong transcription	Duodenum Mucosa	Duodenum
35	chr2:183785000-183793000	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr2:183785800-183803800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr2:183785800-183824200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:183786000-183794800	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr2:183786000-183795000	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr2:183786000-183803800	Strong transcription	HSMM	muscle
41	chr2:183786000-183804400	Strong transcription	HUVEC	blood vessel
42	chr2:183786200-183793400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr2:183786200-183798400	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr2:183786200-183804200	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr2:183786400-183800000	Weak transcription	Fetal Brain Female	brain
46	chr2:183786400-183814200	Weak transcription	Aorta	Aorta
47	chr2:183786600-183826600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr2:183787000-183793800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:183787000-183824000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr2:183787200-183792800	Weak transcription	Brain Substantia Nigra	brain

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