Variant report

Variant	rs12323708
Chromosome Location	chr14:68792240-68792241
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10132889	0.91[CEU][hapmap];0.95[EUR][1000 genomes]
rs10136827	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10136837	1.00[EUR][1000 genomes]
rs10146680	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10147024	0.92[EUR][1000 genomes]
rs11844086	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs11848477	1.00[CHB][hapmap]
rs12432392	1.00[CHB][hapmap]
rs12432997	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12435186	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs12435229	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs12435617	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs12436418	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs12437046	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17105381	0.95[EUR][1000 genomes]
rs17105397	0.91[CEU][hapmap];1.00[EUR][1000 genomes]
rs17105407	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17105443	0.91[CEU][hapmap];0.95[EUR][1000 genomes]
rs17193284	0.91[CEU][hapmap];0.95[EUR][1000 genomes]
rs17755115	0.81[CEU][hapmap];0.88[EUR][1000 genomes]
rs2104046	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28460083	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28502384	1.00[EUR][1000 genomes]
rs28503524	1.00[EUR][1000 genomes]
rs34334823	0.94[ASN][1000 genomes]
rs35763290	0.93[EUR][1000 genomes]
rs3784098	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs3784100	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs3784105	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4083474	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55978801	1.00[EUR][1000 genomes]
rs61623658	0.84[EUR][1000 genomes]
rs7151587	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs73272283	0.97[ASN][1000 genomes]
rs73272301	0.94[ASN][1000 genomes]
rs74061613	0.94[ASN][1000 genomes]
rs8016350	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs911256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9323505	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323507	0.95[EUR][1000 genomes]
rs9944146	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs9989140	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9989153	0.91[CEU][hapmap];1.00[EUR][1000 genomes]

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	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv428628	chr14:68674504-68835127	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68769000-68810000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:68777000-68793400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr14:68783400-68793600	Weak transcription	Pancreas	Pancrea
4	chr14:68785600-68793600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr14:68785600-68812400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr14:68786600-68795200	Weak transcription	Aorta	Aorta
7	chr14:68786600-68799000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr14:68786800-68798800	Weak transcription	Brain Anterior Caudate	brain
9	chr14:68787000-68792400	Weak transcription	Colon Smooth Muscle	Colon
10	chr14:68787400-68798400	Weak transcription	Fetal Stomach	stomach
11	chr14:68787600-68795200	Weak transcription	Spleen	Spleen
12	chr14:68788200-68793600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr14:68788200-68807000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr14:68788400-68796600	Weak transcription	Fetal Lung	lung
15	chr14:68789600-68810400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr14:68790200-68795600	Weak transcription	Psoas Muscle	Psoas
17	chr14:68790400-68795400	Enhancers	Primary B cells from peripheral blood	blood
18	chr14:68790800-68799200	Weak transcription	Fetal Muscle Leg	muscle
19	chr14:68791400-68795000	Enhancers	Primary B cells from cord blood	blood
20	chr14:68791800-68792800	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr14:68791800-68793400	Weak transcription	GM12878-XiMat	blood
22	chr14:68792000-68792800	Enhancers	Monocytes-CD14+_RO01746	blood

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