Variant report

Variant	rs164712
Chromosome Location	chr5:68405526-68405527
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:68398171..68400473-chr5:68404244..68405792,2	K562	blood:
2	chr5:68392345..68395131-chr5:68404844..68408147,4	K562	blood:

Variant related genes	Relation type
ENSG00000145740	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10056618	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs163191	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.96[ASN][1000 genomes]
rs163192	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.93[ASN][1000 genomes]
rs163193	0.96[ASN][1000 genomes]
rs163194	0.94[ASN][1000 genomes]
rs164391	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs164394	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs164396	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.89[LWK][hapmap];0.96[MEX][hapmap];0.98[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs164572	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs164577	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.83[LWK][hapmap];0.92[MEX][hapmap];0.85[MKK][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs164578	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.82[LWK][hapmap];0.92[MEX][hapmap];0.86[MKK][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs164579	0.80[CHB][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs164580	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs164581	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs164710	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs186790	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs187043	0.94[ASN][1000 genomes]
rs234262	0.83[AMR][1000 genomes]
rs240809	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2447794	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs337253	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];0.96[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs337256	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs337259	0.96[ASN][1000 genomes]
rs337262	0.96[ASN][1000 genomes]
rs338668	0.81[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.96[ASN][1000 genomes]
rs338678	0.96[ASN][1000 genomes]
rs350110	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs350111	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.92[LWK][hapmap];0.96[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs350112	0.96[CEU][hapmap];0.91[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs351432	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs351444	0.87[CHD][hapmap];0.81[JPT][hapmap]
rs420228	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs454828	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs570884	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs688674	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9291940	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[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	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv881765	chr5:68379836-68448694	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv881766	chr5:68401941-68448694	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1035004	chr5:68405526-68670101	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68390600-68405600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:68391000-68415200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:68391200-68405600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:68391200-68405600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr5:68391200-68405600	Weak transcription	Psoas Muscle	Psoas
6	chr5:68391400-68415800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:68391400-68428800	Weak transcription	Stomach Mucosa	stomach
8	chr5:68391400-68431200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr5:68392200-68427000	Weak transcription	Fetal Heart	heart
10	chr5:68395000-68419400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr5:68395000-68428400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:68395200-68405800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:68395400-68413200	Strong transcription	Duodenum Mucosa	Duodenum
14	chr5:68395600-68406400	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr5:68396200-68406200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:68396400-68405600	Weak transcription	Aorta	Aorta
17	chr5:68397400-68406400	Strong transcription	Fetal Intestine Large	intestine
18	chr5:68397400-68425000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr5:68397400-68426400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:68397600-68425000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:68397800-68406800	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr5:68398600-68427400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr5:68398800-68413400	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr5:68398800-68426000	Strong transcription	Adipose Nuclei	Adipose
25	chr5:68399000-68405600	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr5:68399000-68405600	Strong transcription	Liver	Liver
27	chr5:68399000-68406000	Strong transcription	Brain Germinal Matrix	brain
28	chr5:68399000-68406200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:68399000-68406200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr5:68399000-68406200	Strong transcription	HSMM	muscle
31	chr5:68399000-68406400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr5:68399000-68406600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:68399000-68406800	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr5:68399000-68406800	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr5:68399000-68406800	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr5:68399000-68408000	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr5:68399000-68421400	Strong transcription	Osteobl	bone
38	chr5:68399000-68422600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr5:68399000-68424600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:68399000-68425600	Strong transcription	Fetal Thymus	thymus
41	chr5:68399000-68428200	Strong transcription	Placenta	Placenta
42	chr5:68399200-68406000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr5:68399200-68406200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr5:68399200-68406600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr5:68399200-68407000	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr5:68399800-68406200	Strong transcription	Left Ventricle	heart
47	chr5:68399800-68406200	Strong transcription	Ovary	ovary
48	chr5:68400000-68413800	Strong transcription	Fetal Muscle Trunk	muscle
49	chr5:68400200-68431200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr5:68400400-68406000	Strong transcription	Fetal Brain Male	brain

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