Variant report

Variant	rs578010536
Chromosome Location	chr14:31711655-31711656
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	NR2F2	chr14:31711471-31712006	K562	blood:	n/a	n/a
2	IRF1	chr14:31711376-31711664	K562	blood:	n/a	n/a
3	SRF	chr14:31711321-31711825	HepG2	liver:	n/a	chr14:31711633-31711651
4	SRF	chr14:31711569-31711701	GM12878	blood:	n/a	chr14:31711633-31711651
5	ATF1	chr14:31711643-31711937	K562	blood:	n/a	n/a
6	SRF	chr14:31711387-31711717	K562	blood:	n/a	chr14:31711633-31711651
7	SRF	chr14:31711442-31711729	H1-hESC	embryonic stem cell:	n/a	chr14:31711633-31711651
8	YY1	chr14:31711599-31711781	K562	blood:	n/a	n/a
9	EP300	chr14:31711634-31711811	K562	blood:	n/a	n/a
10	SRF	chr14:31711551-31711776	GM12878	blood:	n/a	chr14:31711633-31711651
11	SRF	chr14:31711461-31711736	GM12878	blood:	n/a	chr14:31711633-31711651
12	SRF	chr14:31711265-31711772	ECC-1	luminal epithelium:	n/a	chr14:31711633-31711651
13	ELK1	chr14:31711607-31711747	K562	blood:	n/a	n/a
14	NR2F2	chr14:31711566-31711886	K562	blood:	n/a	n/a
15	SRF	chr14:31711461-31711791	HepG2	liver:	n/a	chr14:31711633-31711651

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31705909..31709311-chr14:31711142..31713834,3	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: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31707800-31712800	Weak transcription	Lung	lung
2	chr14:31707800-31713400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:31707800-31730800	Weak transcription	Pancreas	Pancrea
4	chr14:31709000-31713800	Enhancers	K562	blood
5	chr14:31710200-31712000	Enhancers	HepG2	liver
6	chr14:31710600-31715200	Enhancers	Stomach Mucosa	stomach
7	chr14:31710800-31711800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr14:31710800-31711800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:31710800-31711800	Enhancers	Left Ventricle	heart
10	chr14:31710800-31711800	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr14:31710800-31712000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr14:31710800-31712000	Enhancers	HMEC	breast
13	chr14:31710800-31712200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr14:31710800-31712400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr14:31711000-31711800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr14:31711000-31711800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:31711000-31711800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr14:31711000-31711800	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr14:31711200-31711800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr14:31711200-31711800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:31711200-31711800	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr14:31711200-31712000	Weak transcription	Spleen	Spleen
23	chr14:31711400-31711800	Active TSS	Ovary	ovary
24	chr14:31711400-31711800	Active TSS	Stomach Smooth Muscle	stomach
25	chr14:31711400-31712000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr14:31711400-31712000	Enhancers	NHLF	lung
27	chr14:31711400-31712400	Weak transcription	Esophagus	oesophagus
28	chr14:31711400-31712400	Weak transcription	Hela-S3	cervix
29	chr14:31711400-31713000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr14:31711400-31713000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr14:31711400-31714000	Weak transcription	A549	lung
32	chr14:31711400-31716600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr14:31711600-31711800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr14:31711600-31711800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr14:31711600-31711800	Active TSS	Rectal Smooth Muscle	rectum
36	chr14:31711600-31711800	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr14:31711600-31711800	Flanking Active TSS	Osteobl	bone
38	chr14:31711600-31712000	Enhancers	Fetal Lung	lung
39	chr14:31711600-31713200	Weak transcription	Small Intestine	intestine
40	chr14:31711600-31720400	Weak transcription	Duodenum Mucosa	Duodenum

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