Variant report

Variant	rs9354938
Chromosome Location	chr6:71427764-71427765
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs2274972	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3734369	0.97[EUR][1000 genomes]
rs4706460	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4707842	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4707844	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61001507	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6902786	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6919104	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6940971	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6941789	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7747310	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7748778	0.97[EUR][1000 genomes]
rs7754217	0.95[AFR][1000 genomes]
rs7764445	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9342795	0.92[AFR][1000 genomes]
rs9342796	1.00[EUR][1000 genomes]
rs9346403	0.92[EUR][1000 genomes]
rs9351793	0.98[AFR][1000 genomes]
rs9354937	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9360426	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9364102	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9364103	0.98[AFR][1000 genomes]
rs9364109	0.92[EUR][1000 genomes]
rs9364111	0.85[EUR][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	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1027049	chr6:70961610-71561488	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv524328	chr6:70961833-71558805	Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv917312	chr6:70961903-71601688	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv886147	chr6:71273253-71471863	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71420000-71435200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr6:71420000-71436800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:71422000-71435200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:71425400-71442600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr6:71425800-71427800	Enhancers	GM12878-XiMat	blood
6	chr6:71426000-71428200	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr6:71426000-71428200	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr6:71426200-71428400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr6:71426200-71428400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr6:71426200-71443800	Weak transcription	Lung	lung
11	chr6:71426200-71451000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:71426400-71428200	Enhancers	Primary T cells from cord blood	blood
13	chr6:71426400-71428200	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr6:71426400-71443000	Weak transcription	Primary B cells from cord blood	blood
15	chr6:71426600-71428000	Enhancers	Primary T cells fromperipheralblood	blood
16	chr6:71426600-71428000	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr6:71426600-71428200	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr6:71426600-71428400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr6:71426800-71428000	Enhancers	Primary B cells from peripheral blood	blood
20	chr6:71426800-71428000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr6:71427000-71427800	Enhancers	HUVEC	blood vessel
22	chr6:71427200-71428200	Weak transcription	Gastric	stomach
23	chr6:71427200-71428200	Weak transcription	Psoas Muscle	Psoas
24	chr6:71427200-71429800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr6:71427200-71435000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr6:71427200-71439600	Weak transcription	Pancreas	Pancrea
27	chr6:71427400-71430000	Weak transcription	Left Ventricle	heart
28	chr6:71427400-71442600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr6:71427400-71444200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr6:71427600-71433000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr6:71427600-71442600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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