Variant report

Variant	rs2966795
Chromosome Location	chr5:107569302-107569303
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10036343	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10041907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10057905	0.89[YRI][hapmap]
rs10063449	0.92[EUR][1000 genomes]
rs10063866	0.88[CEU][hapmap];0.90[EUR][1000 genomes]
rs10071595	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10072270	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs10075907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10455007	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs10463586	0.87[EUR][1000 genomes]
rs11743651	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[EUR][1000 genomes]
rs11744374	0.90[EUR][1000 genomes]
rs13178456	0.91[EUR][1000 genomes]
rs1849011	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2029104	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2044709	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2044710	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2112306	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs2122158	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2167001	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2416188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs28497144	0.88[EUR][1000 genomes]
rs286764	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs286767	0.90[EUR][1000 genomes]
rs2922423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2922424	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2922426	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2922427	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2922428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2922429	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2922430	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2922433	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2966797	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2966799	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2966811	0.86[AFR][1000 genomes]
rs34298471	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4541643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4957553	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs4957554	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs4957751	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs4957753	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs55896795	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57222565	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6596770	0.88[CEU][hapmap];0.90[EUR][1000 genomes]
rs6596771	0.90[EUR][1000 genomes]
rs6596777	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6875297	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6883082	0.89[CEU][hapmap];0.90[EUR][1000 genomes]
rs7708996	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs7717747	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs7726298	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[EUR][1000 genomes]
rs9326725	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs962680	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs989001	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]

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	nsv534281	chr5:107357579-107674981	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv830441	chr5:107450392-107614557	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv882683	chr5:107476501-107769095	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv882684	chr5:107521677-107695558	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv830442	chr5:107539150-107697020	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv882685	chr5:107564746-107695558	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv882686	chr5:107564746-107769095	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107516200-107584800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr5:107517000-107571800	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr5:107546600-107590800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr5:107547000-107577200	Weak transcription	Fetal Intestine Large	intestine
5	chr5:107549200-107578000	Weak transcription	Pancreas	Pancrea
6	chr5:107551800-107569600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr5:107552000-107578800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr5:107552000-107585000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr5:107553000-107575400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr5:107553000-107584800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:107553400-107590800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr5:107554600-107574200	Weak transcription	Primary B cells from peripheral blood	blood
13	chr5:107556400-107580200	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr5:107558000-107581000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr5:107561400-107595000	Weak transcription	Psoas Muscle	Psoas
16	chr5:107561800-107575200	Weak transcription	Right Ventricle	heart
17	chr5:107561800-107576000	Weak transcription	Fetal Intestine Small	intestine
18	chr5:107564200-107580400	Weak transcription	Ovary	ovary
19	chr5:107566600-107578400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr5:107567800-107578000	Weak transcription	Aorta	Aorta
21	chr5:107568000-107575000	Weak transcription	Primary B cells from cord blood	blood
22	chr5:107568600-107570400	Enhancers	Fetal Heart	heart
23	chr5:107568800-107570200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:107569000-107569600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr5:107569000-107569600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr5:107569000-107569600	Enhancers	Colon Smooth Muscle	Colon
27	chr5:107569000-107569800	Strong transcription	Primary T cells from cord blood	blood
28	chr5:107569000-107570000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr5:107569000-107570000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr5:107569000-107570200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr5:107569200-107569600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:107569200-107569600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:107569200-107569600	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr5:107569200-107569600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr5:107569200-107569800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr5:107569200-107569800	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr5:107569200-107570000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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