Variant report

Variant	rs2952184
Chromosome Location	chr8:10125195-10125196
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10283145	1.00[CHB][hapmap]
rs11249980	0.87[AFR][1000 genomes]
rs17151561	0.96[ASN][1000 genomes]
rs17151697	0.83[CEU][hapmap]
rs17151699	0.81[AMR][1000 genomes]
rs17709397	1.00[CHB][hapmap]
rs17765901	1.00[CHB][hapmap]
rs28611339	0.81[AMR][1000 genomes]
rs28870492	0.81[AMR][1000 genomes]
rs2952168	0.96[YRI][hapmap];0.86[AFR][1000 genomes]
rs2952172	0.96[YRI][hapmap];0.84[AFR][1000 genomes]
rs2952183	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2952185	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2952186	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2952187	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2952189	1.00[CHB][hapmap];0.84[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2952258	0.87[AFR][1000 genomes]
rs2952262	0.96[YRI][hapmap];0.87[AFR][1000 genomes]
rs2975647	0.96[YRI][hapmap];0.86[AFR][1000 genomes]
rs2975649	0.92[YRI][hapmap];0.84[AFR][1000 genomes]
rs2975653	0.96[YRI][hapmap];0.87[AFR][1000 genomes]
rs2975654	0.96[YRI][hapmap]
rs2975655	0.96[YRI][hapmap];0.87[AFR][1000 genomes]
rs2975662	0.86[AFR][1000 genomes]
rs2975675	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2975680	1.00[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2975681	0.96[ASN][1000 genomes]
rs2975682	1.00[JPT][hapmap];0.89[YRI][hapmap];0.88[ASN][1000 genomes]
rs2975683	0.91[ASN][1000 genomes]
rs4260895	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4305908	0.96[ASN][1000 genomes]
rs4433149	1.00[CHB][hapmap]
rs4504639	0.96[ASN][1000 genomes]
rs4610752	1.00[CHB][hapmap]
rs4841305	0.83[YRI][hapmap]
rs6601426	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6601443	1.00[CHB][hapmap]
rs6601451	1.00[CHB][hapmap]
rs66666973	0.81[AMR][1000 genomes]
rs67455183	0.81[EUR][1000 genomes]
rs6994060	0.81[AMR][1000 genomes]
rs73534533	0.96[ASN][1000 genomes]
rs7818437	1.00[CHB][hapmap]
rs7824675	1.00[CHB][hapmap]
rs7838901	1.00[CHB][hapmap]

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	nsv831230	chr8:9953343-10139350	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1021921	chr8:9958259-10212555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv831231	chr8:10001214-10189094	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1026335	chr8:10037279-10139782	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv1016347	chr8:10091475-10223667	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1028650	chr8:10101815-10178537	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10096000-10128000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr8:10112200-10127800	Weak transcription	Brain Hippocampus Middle	brain
3	chr8:10118200-10127800	Weak transcription	Brain Angular Gyrus	brain
4	chr8:10118200-10128000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:10123000-10128000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:10123000-10138400	Weak transcription	Spleen	Spleen
7	chr8:10123400-10125200	Weak transcription	Fetal Intestine Large	intestine
8	chr8:10123400-10125800	Weak transcription	Small Intestine	intestine
9	chr8:10123600-10135400	Weak transcription	Fetal Intestine Small	intestine
10	chr8:10124200-10125400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr8:10124400-10125400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:10124400-10125400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr8:10124400-10125600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:10124400-10125600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:10124400-10125800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:10124600-10125200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:10124600-10125400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr8:10124600-10125400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr8:10124600-10125400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr8:10124600-10125400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr8:10124600-10125400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr8:10124600-10125600	Enhancers	H1 Cell Line	embryonic stem cell
23	chr8:10124600-10125600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:10124600-10125600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr8:10124600-10125600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:10124600-10125600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr8:10124600-10125600	Enhancers	Adipose Nuclei	Adipose
28	chr8:10124600-10125800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:10124600-10125800	Enhancers	Rectal Smooth Muscle	rectum
30	chr8:10124600-10126200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr8:10124600-10126400	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr8:10124800-10125400	Enhancers	H9 Cell Line	embryonic stem cell
33	chr8:10124800-10126000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:10124800-10126200	Enhancers	Colon Smooth Muscle	Colon
35	chr8:10124800-10128000	Weak transcription	Fetal Brain Female	brain
36	chr8:10125000-10125400	Enhancers	Lung	lung
37	chr8:10125000-10125600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr8:10125000-10125600	Enhancers	Placenta	Placenta
39	chr8:10125000-10126400	Weak transcription	Brain Substantia Nigra	brain
40	chr8:10125000-10126600	Weak transcription	Fetal Brain Male	brain
41	chr8:10125000-10127200	Enhancers	Brain Germinal Matrix	brain

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