Variant report

Variant	rs9347138
Chromosome Location	chr6:167021644-167021645
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:167019640..167022664-chr6:167027634..167030471,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12528284	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2032544	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[YRI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2032545	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3778379	0.94[CHB][hapmap]
rs3778380	0.90[CHB][hapmap]
rs3778381	0.90[CHB][hapmap]
rs3778383	0.90[CHB][hapmap]
rs3799578	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3799579	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3799581	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3799582	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3799589	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3799590	0.88[CEU][hapmap];0.90[CHB][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3799591	0.88[CEU][hapmap];0.90[CHB][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3799592	1.00[CEU][hapmap];0.90[CHB][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3799593	1.00[CEU][hapmap];0.90[CHB][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3799594	0.88[CEU][hapmap];0.90[CHB][hapmap];0.83[EUR][1000 genomes]
rs3799595	0.88[CEU][hapmap];0.89[CHB][hapmap];0.83[EUR][1000 genomes]
rs3799596	0.90[CHB][hapmap];0.83[EUR][1000 genomes]
rs3799599	0.90[CHB][hapmap]
rs3799601	0.89[CHB][hapmap]
rs3823196	0.88[CEU][hapmap];0.90[CHB][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3823197	1.00[CEU][hapmap];0.90[CHB][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6907098	0.89[CHB][hapmap]
rs6907443	0.90[CHB][hapmap]
rs9295356	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9348149	0.89[CHB][hapmap]
rs9355586	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9356493	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9356494	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9366031	0.90[CHB][hapmap];0.81[EUR][1000 genomes]
rs9366033	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	nsv605260	chr6:166984094-167455139	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv432984	chr6:167018915-167181613	Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167012000-167023600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:167012200-167023400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr6:167012400-167025000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:167012400-167034400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:167012600-167025000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:167012600-167027600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:167012800-167027800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:167013200-167031000	Weak transcription	Fetal Intestine Small	intestine
9	chr6:167013400-167028800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:167013600-167027800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr6:167013600-167028200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:167013800-167022400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr6:167013800-167027000	Weak transcription	Esophagus	oesophagus
14	chr6:167013800-167027400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr6:167014000-167022200	Weak transcription	Brain Hippocampus Middle	brain
16	chr6:167014000-167025200	Weak transcription	Right Atrium	heart
17	chr6:167014000-167028000	Weak transcription	Brain Anterior Caudate	brain
18	chr6:167014200-167023400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr6:167014200-167028400	Weak transcription	Stomach Mucosa	stomach
20	chr6:167014400-167027600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr6:167015000-167028400	Weak transcription	Osteobl	bone
22	chr6:167016000-167022400	Weak transcription	Ovary	ovary
23	chr6:167016000-167027400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr6:167016000-167027800	Weak transcription	Brain Angular Gyrus	brain
25	chr6:167016000-167028200	Weak transcription	Gastric	stomach
26	chr6:167016000-167034400	Weak transcription	Aorta	Aorta
27	chr6:167016200-167025800	Weak transcription	Spleen	Spleen
28	chr6:167016200-167028400	Weak transcription	NH-A	brain
29	chr6:167016600-167032800	Weak transcription	Colon Smooth Muscle	Colon
30	chr6:167016800-167030200	Weak transcription	Brain Germinal Matrix	brain
31	chr6:167017200-167023600	Weak transcription	Fetal Muscle Leg	muscle
32	chr6:167017200-167023600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr6:167017200-167028600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:167017200-167032200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr6:167017400-167022400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr6:167017400-167025000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr6:167017400-167030400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:167017600-167028400	Weak transcription	HSMM	muscle
39	chr6:167018400-167024800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr6:167018600-167025000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:167019600-167023000	Enhancers	NHLF	lung
42	chr6:167019800-167023600	Weak transcription	Psoas Muscle	Psoas
43	chr6:167019800-167025200	Weak transcription	Right Ventricle	heart
44	chr6:167019800-167028200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr6:167020000-167024800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr6:167020400-167024800	Weak transcription	Lung	lung
47	chr6:167021000-167024000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr6:167021200-167022800	Enhancers	HUVEC	blood vessel
49	chr6:167021200-167023600	Enhancers	Fetal Stomach	stomach
50	chr6:167021200-167028400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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