Variant report

Variant	rs6693314
Chromosome Location	chr1:92058290-92058291
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:92053069..92056017-chr1:92057570..92059877,2	K562	blood:
2	chr1:92049157..92050899-chr1:92056086..92058376,2	K562	blood:
3	chr1:92057409..92061312-chr1:92170673..92173610,3	K562	blood:
4	chr1:92056853..92058906-chr1:92058997..92061738,3	K562	blood:
5	chr1:92032150..92035009-chr1:92057004..92058945,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10493852	0.86[EUR][1000 genomes]
rs11800345	0.87[EUR][1000 genomes]
rs1192404	0.84[EUR][1000 genomes]
rs1192408	0.85[EUR][1000 genomes]
rs936340	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949516	chr1:91644418-92109261	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6693314	RPAP2	cis	cerebellum	SCAN
rs6693314	TGFBR3	cis	parietal	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92049600-92061600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:92051600-92060000	Weak transcription	Lung	lung
3	chr1:92051800-92067600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:92055000-92060800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr1:92055400-92061200	Enhancers	Ovary	ovary
6	chr1:92055600-92061400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:92055800-92076400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:92056000-92058400	Enhancers	Fetal Thymus	thymus
9	chr1:92056000-92062200	Enhancers	Fetal Heart	heart
10	chr1:92056400-92058600	Weak transcription	Fetal Stomach	stomach
11	chr1:92056800-92058400	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr1:92056800-92060000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr1:92057000-92058400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:92057000-92058600	Enhancers	Stomach Smooth Muscle	stomach
15	chr1:92057200-92058400	Weak transcription	Placenta	Placenta
16	chr1:92057200-92060000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:92057200-92060200	Weak transcription	Pancreas	Pancrea
18	chr1:92057200-92070400	Weak transcription	Psoas Muscle	Psoas
19	chr1:92057400-92058400	Enhancers	Primary T cells fromperipheralblood	blood
20	chr1:92057400-92058600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr1:92057400-92058600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:92057400-92060600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:92057600-92058400	Enhancers	Primary T cells from cord blood	blood
24	chr1:92057600-92058400	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr1:92057600-92058400	Enhancers	Duodenum Mucosa	Duodenum
26	chr1:92057600-92058600	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr1:92057600-92058800	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr1:92057600-92060000	Weak transcription	Colon Smooth Muscle	Colon
29	chr1:92057600-92061600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr1:92057600-92063400	Enhancers	K562	blood
31	chr1:92057800-92058600	Enhancers	Left Ventricle	heart
32	chr1:92057800-92060000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr1:92057800-92061600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:92058200-92058600	Enhancers	Right Atrium	heart
35	chr1:92058200-92058600	Weak transcription	Right Ventricle	heart

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