Variant report

Variant	rs66810706
Chromosome Location	chr4:57264594-57264595
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10434445	0.84[EUR][1000 genomes]
rs1060472	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11133442	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12501334	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12501502	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12503412	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12504291	0.81[AMR][1000 genomes]
rs12510712	0.81[EUR][1000 genomes]
rs12511770	0.81[AMR][1000 genomes]
rs1474179	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1520026	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1520030	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1967559	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2271923	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28866881	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3796541	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4346704	0.80[AMR][1000 genomes]
rs4493603	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4864583	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5010012	0.89[EUR][1000 genomes]
rs56392224	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58151706	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6820314	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6821301	0.81[AMR][1000 genomes]
rs6829250	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6832797	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6834696	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6846895	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6855041	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7664841	0.81[AMR][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	nsv999639	chr4:56942917-57401310	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1014045	chr4:56942917-57404511	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
4	nsv530121	chr4:57167367-57695576	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv4347	chr4:57261404-57280595	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57254200-57273800	Weak transcription	Spleen	Spleen
2	chr4:57254400-57268400	Weak transcription	Lung	lung
3	chr4:57254400-57273600	Weak transcription	Pancreas	Pancrea
4	chr4:57254600-57271600	Weak transcription	Ovary	ovary
5	chr4:57254600-57276400	Weak transcription	Psoas Muscle	Psoas
6	chr4:57254600-57280200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr4:57254800-57271600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr4:57254800-57273200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr4:57254800-57275200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr4:57254800-57275400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr4:57254800-57276400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr4:57254800-57276400	Weak transcription	Right Ventricle	heart
13	chr4:57254800-57276600	Weak transcription	Left Ventricle	heart
14	chr4:57254800-57287600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:57255000-57264800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr4:57255000-57265600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr4:57255000-57266000	Weak transcription	Primary B cells from cord blood	blood
18	chr4:57255000-57266200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr4:57255000-57266200	Weak transcription	NH-A	brain
20	chr4:57255000-57266400	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr4:57255000-57266400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr4:57255000-57266600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr4:57255000-57266600	Weak transcription	HSMM	muscle
24	chr4:57255000-57266800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:57255000-57269200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr4:57255000-57271400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr4:57255200-57266200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:57255200-57266200	Weak transcription	HUVEC	blood vessel
29	chr4:57255200-57266400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr4:57255200-57266800	Weak transcription	Fetal Kidney	kidney
31	chr4:57255200-57266800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr4:57255200-57267200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr4:57255200-57267400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr4:57255200-57271600	Weak transcription	NHEK	skin
35	chr4:57255200-57272200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr4:57255200-57275600	Weak transcription	NHLF	lung
37	chr4:57255200-57276400	Weak transcription	Colon Smooth Muscle	Colon
38	chr4:57255200-57276600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr4:57255200-57276600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr4:57255200-57276600	Weak transcription	Brain Substantia Nigra	brain
41	chr4:57255400-57266000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:57255400-57266200	Weak transcription	Primary T cells from cord blood	blood
43	chr4:57255400-57266400	Weak transcription	HMEC	breast
44	chr4:57255400-57266800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr4:57255400-57272400	Weak transcription	Fetal Brain Male	brain
46	chr4:57255400-57276400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr4:57255600-57266200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr4:57255600-57272000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr4:57255600-57275600	Weak transcription	Fetal Brain Female	brain
50	chr4:57255800-57266400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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