Variant report

Variant	rs1961347
Chromosome Location	chr14:31732534-31732535
allele	A/G
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	TEAD4	chr14:31732503-31734140	HepG2	liver:	n/a	chr14:31732845-31732854
2	NR2F2	chr14:31732489-31733356	MCF-7	breast:	n/a	chr14:31732791-31732806
3	TEAD4	chr14:31732513-31733372	SK-N-SH	brain:	n/a	chr14:31732845-31732854
4	NFIC	chr14:31732447-31733361	ECC-1	luminal epithelium:	n/a	chr14:31732751-31732768 chr14:31732752-31732768
5	MXI1	chr14:31732506-31733424	IMR90	lung:	n/a	n/a
6	TCF12	chr14:31732515-31733369	SK-N-SH	brain:	n/a	chr14:31733242-31733249
7	PBX3	chr14:31732527-31733253	SK-N-SH	brain:	n/a	n/a
8	GATA3	chr14:31732477-31733330	SK-N-SH	brain:	n/a	chr14:31733050-31733059 chr14:31732937-31732947
9	NFIC	chr14:31732408-31733518	SK-N-SH	brain:	n/a	chr14:31732751-31732768 chr14:31732752-31732768
10	POLR2A	chr14:31732529-31733309	HUVEC	blood vessel:	n/a	n/a
11	TEAD4	chr14:31732467-31733296	SK-N-SH	brain:	n/a	chr14:31732845-31732854
12	FOXM1	chr14:31732513-31733348	ECC-1	luminal epithelium:	n/a	n/a
13	NFIC	chr14:31732502-31733312	ECC-1	luminal epithelium:	n/a	chr14:31732751-31732768 chr14:31732752-31732768
14	TCF12	chr14:31732495-31733229	ECC-1	luminal epithelium:	n/a	n/a
15	EP300	chr14:31732489-31733410	ECC-1	luminal epithelium:	n/a	n/a
16	FOSL2	chr14:31732507-31733336	SK-N-SH	brain:	n/a	chr14:31733049-31733057 chr14:31732982-31732991
17	TEAD4	chr14:31732499-31733356	ECC-1	luminal epithelium:	n/a	chr14:31732845-31732854
18	EP300	chr14:31732477-31733246	SK-N-SH	brain:	n/a	n/a
19	RCOR1	chr14:31732377-31733921	IMR90	lung:	n/a	n/a
20	TCF12	chr14:31732486-31733437	SK-N-SH	brain:	n/a	chr14:31733242-31733249
21	GATA3	chr14:31732453-31733312	SK-N-SH	brain:	n/a	chr14:31733050-31733059 chr14:31732937-31732947

No.	Distal block	Cell Line	Cell type
1	chr14:31731560..31733729-chr14:31736950..31739890,3	K562	blood:
2	chr14:31732131..31735050-chr14:31739245..31741338,2	K562	blood:
3	chr14:31675532..31678117-chr14:31730710..31734144,6	MCF-7	breast:
4	chr14:31724753..31726781-chr14:31730030..31732709,2	MCF-7	breast:
5	chr14:31673985..31677853-chr14:31730006..31735257,8	MCF-7	breast:
6	chr14:31674477..31677310-chr14:31731984..31734716,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HEATR5A-1	chr14:31732507-31733032	NONHSAT036276

Variant related genes	Relation type
ENSG00000199291	TF binding region
ENSG00000092148	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17097777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58162259	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59197504	1.00[AMR][1000 genomes]
rs74042188	1.00[AMR][1000 genomes]
rs74042190	1.00[AMR][1000 genomes]
rs74042191	1.00[AMR][1000 genomes]
rs74042192	1.00[AMR][1000 genomes]
rs74042193	1.00[AMR][1000 genomes]
rs74042194	1.00[AMR][1000 genomes]
rs74042195	1.00[AMR][1000 genomes]
rs74042202	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31726400-31736000	Enhancers	Liver	Liver
2	chr14:31727200-31735000	Weak transcription	Gastric	stomach
3	chr14:31729400-31736200	Enhancers	Stomach Mucosa	stomach
4	chr14:31730000-31733600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:31730200-31733000	Enhancers	NHDF-Ad	bronchial
6	chr14:31730400-31733400	Enhancers	Placenta	Placenta
7	chr14:31730400-31735800	Enhancers	NHLF	lung
8	chr14:31730600-31733200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr14:31730600-31733800	Enhancers	Fetal Lung	lung
10	chr14:31730600-31734000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr14:31730600-31734200	Enhancers	Hela-S3	cervix
12	chr14:31730800-31733000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr14:31730800-31733200	Enhancers	Right Atrium	heart
14	chr14:31730800-31733400	Enhancers	Adipose Nuclei	Adipose
15	chr14:31730800-31733400	Enhancers	Fetal Muscle Leg	muscle
16	chr14:31730800-31733400	Enhancers	Fetal Stomach	stomach
17	chr14:31730800-31734000	Enhancers	Placenta Amnion	Placenta Amnion
18	chr14:31731000-31733000	Enhancers	A549	lung
19	chr14:31731000-31733800	Enhancers	Osteobl	bone
20	chr14:31731000-31734000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr14:31731000-31734000	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr14:31731000-31734200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:31731000-31735400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr14:31731000-31735600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:31731000-31735800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:31731000-31735800	Enhancers	HMEC	breast
27	chr14:31731000-31736000	Enhancers	NHEK	skin
28	chr14:31731400-31732600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr14:31731400-31732600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr14:31731400-31732600	Weak transcription	Spleen	Spleen
31	chr14:31731400-31733000	Enhancers	HSMMtube	muscle
32	chr14:31731400-31733200	Weak transcription	Small Intestine	intestine
33	chr14:31731400-31733800	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr14:31731400-31735200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr14:31731600-31732800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr14:31731600-31733000	Enhancers	HepG2	liver
37	chr14:31731600-31734000	Enhancers	HUVEC	blood vessel
38	chr14:31731600-31735000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr14:31731600-31735000	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr14:31731800-31732800	Weak transcription	Brain Substantia Nigra	brain
41	chr14:31731800-31732800	Weak transcription	Fetal Brain Female	brain
42	chr14:31731800-31732800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr14:31731800-31734000	Enhancers	Colon Smooth Muscle	Colon
44	chr14:31732000-31733000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr14:31732000-31733000	Weak transcription	HSMM	muscle
46	chr14:31732000-31733200	Weak transcription	GM12878-XiMat	blood
47	chr14:31732200-31732600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr14:31732200-31732600	Weak transcription	Fetal Intestine Large	intestine
49	chr14:31732200-31732600	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr14:31732200-31732800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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