Variant report

Variant	rs74042191
Chromosome Location	chr14:31710800-31710801
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr14:31710720-31711155	K562	blood:	n/a	n/a
2	TAL1	chr14:31710717-31710957	K562	blood:	n/a	n/a
3	MAFF	chr14:31710600-31710921	K562	blood:	n/a	n/a
4	MAZ	chr14:31710788-31711143	K562	blood:	n/a	n/a
5	RCOR1	chr14:31710628-31711308	K562	blood:	n/a	n/a
6	TEAD4	chr14:31710598-31711053	K562	blood:	n/a	n/a
7	EP300	chr14:31710737-31710999	K562	blood:	n/a	n/a
8	TBL1XR1	chr14:31710664-31711077	K562	blood:	n/a	n/a
9	RCOR1	chr14:31710687-31711319	K562	blood:	n/a	n/a
10	CUX1	chr14:31710722-31711053	K562	blood:	n/a	n/a
11	JUND	chr14:31710742-31711076	K562	blood:	n/a	n/a
12	TBP	chr14:31710701-31710815	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

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:

No data

Variant related genes	Relation type
ENSG00000202402	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10141820	1.00[ASN][1000 genomes]
rs17097777	1.00[AMR][1000 genomes]
rs1961347	1.00[AMR][1000 genomes]
rs41436351	0.94[ASN][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]
rs74042190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74042192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74042193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74042194	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74042195	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74042197	0.94[ASN][1000 genomes]
rs74042199	0.94[ASN][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:57 , 50 per page) page: 1 2

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
31	chr14:31710800-31711000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr14:31710800-31711000	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr14:31710800-31711000	Enhancers	Adipose Nuclei	Adipose
34	chr14:31710800-31711200	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr14:31710800-31711200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr14:31710800-31711200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr14:31710800-31711200	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr14:31710800-31711200	Enhancers	Right Ventricle	heart
39	chr14:31710800-31711200	Enhancers	Stomach Smooth Muscle	stomach
40	chr14:31710800-31711400	Enhancers	Primary T cells fromperipheralblood	blood
41	chr14:31710800-31711400	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr14:31710800-31711400	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr14:31710800-31711400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr14:31710800-31711400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr14:31710800-31711400	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr14:31710800-31711400	Enhancers	A549	lung
47	chr14:31710800-31711600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr14:31710800-31711600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr14:31710800-31711600	Flanking Active TSS	Rectal Smooth Muscle	rectum
50	chr14:31710800-31711800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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