Variant report

Variant	rs12708003
Chromosome Location	chr8:61151150-61151151
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61148922..61152110-chr8:61192037..61194649,3	K562	blood:
2	chr8:61149598..61151950-chr8:61152260..61155123,2	K562	blood:

Variant related genes	Relation type
ENSG00000178538	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10092218	0.81[GIH][hapmap];0.82[JPT][hapmap];0.87[TSI][hapmap]
rs12542601	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12543911	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13248852	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13271624	0.84[EUR][1000 genomes]
rs16926008	0.91[CHB][hapmap];0.82[JPT][hapmap];0.89[TSI][hapmap]
rs1893275	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs28698649	0.83[AFR][1000 genomes]
rs35323112	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59550103	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7461425	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7824479	0.91[CHB][hapmap];0.82[JPT][hapmap];0.89[TSI][hapmap]
rs899741	0.95[CHB][hapmap];0.91[JPT][hapmap]

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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv831332	chr8:60985600-61157730	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1022752	chr8:61095248-61322302	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv831333	chr8:61102862-61275122	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	esv3371465	chr8:61115030-61356658	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv890943	chr8:61134995-61225652	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv831334	chr8:61148796-61330190	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12708003	CA8	cis	parietal	SCAN
rs12708003	RAB2A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61117800-61167400	Weak transcription	Fetal Stomach	stomach
2	chr8:61120600-61158200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:61144200-61151600	Enhancers	Fetal Intestine Large	intestine
4	chr8:61150000-61151600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr8:61150000-61151600	Enhancers	Fetal Thymus	thymus
6	chr8:61150000-61151800	Enhancers	Primary T cells from cord blood	blood
7	chr8:61150000-61152000	Genic enhancers	K562	blood
8	chr8:61150200-61151200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr8:61150200-61151400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr8:61150200-61156200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:61150200-61156800	Weak transcription	Gastric	stomach
12	chr8:61150400-61151200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:61150400-61151400	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr8:61150400-61151400	Enhancers	A549	lung
15	chr8:61150400-61151600	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr8:61150400-61152000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:61150600-61151200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:61150600-61151600	Enhancers	Primary B cells from peripheral blood	blood
19	chr8:61150600-61151600	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr8:61150800-61151800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
21	chr8:61150800-61152000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:61151000-61151200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
23	chr8:61151000-61151200	Flanking Active TSS	HUVEC	blood vessel
24	chr8:61151000-61151400	Enhancers	Primary hematopoietic stem cells	blood
25	chr8:61151000-61151400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:61151000-61151600	Enhancers	Esophagus	oesophagus
27	chr8:61151000-61151600	Enhancers	Left Ventricle	heart
28	chr8:61151000-61151600	Enhancers	Lung	lung
29	chr8:61151000-61151800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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