Variant report

Variant	rs74042190
Chromosome Location	chr14:31710613-31710614
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr14:31710600-31710921	K562	blood:	n/a	n/a
2	TEAD4	chr14:31710598-31711053	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31708924..31710880-chr14:31720802..31723577,2	K562	blood:
2	chr14:31705909..31710425-chr14:31710546..31713834,4	K562	blood:

Variant related genes	Relation type
ENSG00000202402	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17097777	1.00[AMR][1000 genomes]
rs1961347	1.00[AMR][1000 genomes]
rs58162259	1.00[AMR][1000 genomes]
rs59197504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74042188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74042191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74042192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74042193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74042194	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74042195	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74042202	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901587	chr14:31501505-31752664	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1050054	chr14:31501703-31733642	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31707800-31711000	Weak transcription	Esophagus	oesophagus
2	chr14:31707800-31711000	Weak transcription	Spleen	Spleen
3	chr14:31707800-31712800	Weak transcription	Lung	lung
4	chr14:31707800-31713400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:31707800-31730800	Weak transcription	Pancreas	Pancrea
6	chr14:31709000-31710800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr14:31709000-31710800	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr14:31709000-31713800	Enhancers	K562	blood
9	chr14:31709200-31710800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr14:31709400-31710800	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr14:31709400-31710800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr14:31709400-31711000	Weak transcription	Small Intestine	intestine
13	chr14:31710200-31711200	Enhancers	Fetal Heart	heart
14	chr14:31710200-31712000	Enhancers	HepG2	liver
15	chr14:31710400-31711000	Enhancers	NHLF	lung
16	chr14:31710400-31711400	Enhancers	GM12878-XiMat	blood
17	chr14:31710400-31711400	Enhancers	Hela-S3	cervix
18	chr14:31710600-31710800	Enhancers	Rectal Smooth Muscle	rectum
19	chr14:31710600-31711000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr14:31710600-31711000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr14:31710600-31711000	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr14:31710600-31711000	Enhancers	NHDF-Ad	bronchial
23	chr14:31710600-31711000	Enhancers	Osteobl	bone
24	chr14:31710600-31711200	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr14:31710600-31711200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:31710600-31711200	Enhancers	Fetal Lung	lung
27	chr14:31710600-31711200	Enhancers	Ovary	ovary
28	chr14:31710600-31711400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr14:31710600-31711600	Enhancers	Colon Smooth Muscle	Colon
30	chr14:31710600-31715200	Enhancers	Stomach Mucosa	stomach

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