Variant report

Variant	rs4876072
Chromosome Location	chr8:1450640-1450641
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10088143	0.84[ASN][1000 genomes]
rs11136401	0.95[ASN][1000 genomes]
rs11136403	0.82[ASN][1000 genomes]
rs11774149	0.87[ASN][1000 genomes]
rs1859679	0.97[EUR][1000 genomes]
rs2286216	0.91[EUR][1000 genomes]
rs4537327	0.81[ASN][1000 genomes]
rs4875865	0.86[ASN][1000 genomes]
rs4875866	0.87[EUR][1000 genomes]
rs4875867	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4876073	0.90[ASN][1000 genomes]
rs4876074	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4876078	0.83[ASN][1000 genomes]
rs4876082	0.81[ASN][1000 genomes]
rs6995918	0.80[ASN][1000 genomes]
rs6997566	0.82[ASN][1000 genomes]
rs7006345	0.98[EUR][1000 genomes]
rs7832062	0.82[ASN][1000 genomes]
rs7835872	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026194	chr8:600959-1467446	Weak transcription Strong transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1028487	chr8:674077-1642737	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv429833	chr8:720491-1514173	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv932163	chr8:977218-1628286	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv949592	chr8:1108087-1561756	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1026673	chr8:1142469-1679673	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv889697	chr8:1238564-1861971	Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv609509	chr8:1301110-1589888	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1028612	chr8:1319801-1468340	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv539295	chr8:1319801-1468340	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1031375	chr8:1320657-1722050	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv469881	chr8:1374637-1561949	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv427811	chr8:1400816-1676653	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv1019956	chr8:1423117-1462444	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv889701	chr8:1440839-1475823	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1446800-1452400	Enhancers	Fetal Stomach	stomach
2	chr8:1447600-1450800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:1448800-1452200	Enhancers	GM12878-XiMat	blood
4	chr8:1449000-1451000	Weak transcription	Spleen	Spleen
5	chr8:1449000-1452000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
6	chr8:1449200-1451800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr8:1449200-1451800	Enhancers	Dnd41	blood
8	chr8:1449200-1465200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:1449400-1451000	Enhancers	Primary hematopoietic stem cells	blood
10	chr8:1449400-1451200	Enhancers	Fetal Brain Male	brain
11	chr8:1449400-1451600	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr8:1449400-1451600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr8:1449400-1451800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr8:1449400-1452000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr8:1449600-1451200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr8:1449600-1451200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:1449600-1451600	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr8:1449800-1451400	Enhancers	Primary T cells from cord blood	blood
19	chr8:1449800-1452200	Enhancers	Rectal Smooth Muscle	rectum
20	chr8:1449800-1452800	Enhancers	Colon Smooth Muscle	Colon
21	chr8:1450000-1451000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr8:1450000-1451200	Enhancers	Brain Germinal Matrix	brain
23	chr8:1450000-1451400	Enhancers	Fetal Brain Female	brain
24	chr8:1450200-1451200	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr8:1450200-1455800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr8:1450400-1451400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr8:1450400-1452000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr8:1450600-1451000	Enhancers	Fetal Muscle Leg	muscle

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