Variant report

Variant	rs73258672
Chromosome Location	chr14:37130314-37130315
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:122)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SUZ12	chr14:37129605-37130846	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTBP2	chr14:37129970-37133601	H1-hESC	embryonic stem cell:	n/a	n/a
3	SUZ12	chr14:37125132-37130861	NT2-D1	testis:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:37130297-37130347	HL-60	blood:	n/a
2	chr14:37130313-37130363	NHDF-neo	bronchial:	n/a
3	chr14:37130297-37130347	ProgFib	skin:	n/a
4	chr14:37130313-37130363	GM19239	blood:	n/a
5	chr14:37130313-37130363	AG04450	lung:	fetal
6	chr14:37130297-37130347	PANC-1	pancreas:	n/a
7	chr14:37130313-37130363	LNCaP	prostate:	n/a
8	chr14:37130297-37130347	HepG2	liver:	n/a
9	chr14:37130313-37130363	SK-N-MC	brain:	n/a
10	chr14:37130313-37130363	CMK	blood:	n/a
11	chr14:37130297-37130347	SK-N-SH_RA	brain:	n/a
12	chr14:37130313-37130363	K562	blood:	n/a
13	chr14:37130297-37130347	NB4	blood:	n/a
14	chr14:37130297-37130347	SKMC	muscle:	n/a
15	chr14:37130297-37130347	PrEC	prostate:	n/a
16	chr14:37130297-37130347	HIPEpiC	eye:	n/a
17	chr14:37130297-37130347	HRPEpiC	eye:	n/a
18	chr14:37130313-37130363	SK-N-SH_RA	brain:	n/a
19	chr14:37130313-37130363	PrEC	prostate:	n/a
20	chr14:37130297-37130347	MCF-7	breast:	n/a
21	chr14:37130297-37130347	Jurkat	blood:	n/a
22	chr14:37130313-37130363	HCPEpiC	choroid plexus:	n/a
23	chr14:37130313-37130363	AG04449	skin:	fetal
24	chr14:37130297-37130347	HCT-116	colon:	n/a
25	chr14:37130313-37130363	HEK293	kidney:	embryo
26	chr14:37130297-37130347	T-47D	breast:	n/a
27	chr14:37130297-37130347	NT2-D1	testis:	n/a
28	chr14:37130313-37130363	Hela-S3	cervix:	n/a
29	chr14:37130313-37130363	BJ	skin:	n/a
30	chr14:37130313-37130363	NHBE	bronchial:	n/a
31	chr14:37130297-37130347	U87	brain:	n/a
32	chr14:37130313-37130363	HIPEpiC	eye:	n/a
33	chr14:37130313-37130363	SK-N-SH	brain:	n/a
34	chr14:37130313-37130363	HCT-116	colon:	n/a
35	chr14:37130297-37130347	AG09309	skin:	n/a
36	chr14:37130297-37130347	HCM	heart:	n/a
37	chr14:37130313-37130363	HRE	kidney:	n/a
38	chr14:37130297-37130347	Hela-S3	cervix:	n/a
39	chr14:37130313-37130363	AG10803	skin:	n/a
40	chr14:37130313-37130363	Caco-2	colon:	n/a
41	chr14:37130313-37130363	HepG2	liver:	n/a
42	chr14:37130297-37130347	SK-N-MC	brain:	n/a
43	chr14:37130297-37130347	NHDF-neo	bronchial:	n/a
44	chr14:37130297-37130347	AG04449	skin:	fetal
45	chr14:37130313-37130363	GM12892	blood:	n/a
46	chr14:37130313-37130363	BE2_C	brain:	n/a
47	chr14:37130313-37130363	ECC-1	luminal epithelium:	n/a
48	chr14:37130313-37130363	GM12891	blood:	n/a
49	chr14:37130297-37130347	HCF	heart:	n/a
50	chr14:37130313-37130363	PFSK-1	brain:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:37129932..37131787-chr14:37640970..37642806,2	MCF-7	breast:
2	chr14:37128347..37130416-chr14:37152471..37154049,2	MCF-7	breast:
3	chr14:37129600..37133163-chr14:37133957..37137315,6	K562	blood:
4	chr14:37129409..37130362-chr14:37411165..37411817,2	MCF-7	breast:
5	chr14:37123470..37126797-chr14:37128985..37133128,4	MCF-7	breast:
6	chr14:37126435..37129205-chr14:37130244..37132576,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258661	TF binding region
PAX9	TF binding region
PAX9	CpG island
ENSG00000258661	CpG island
ENSG00000183032	Chromatin interaction
ENSG00000198807	Chromatin interaction
ENSG00000258661	Chromatin interaction
ENSG00000258708	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17104879	0.87[AFR][1000 genomes]
rs73258674	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040256	chr14:36501452-37172046	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv542040	chr14:36501452-37172046	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv1047290	chr14:36564568-37445157	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv1037952	chr14:36670484-37294692	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv542042	chr14:36670484-37294692	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv1053685	chr14:36915643-37245920	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv917279	chr14:36953511-37146655	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37123400-37130800	Bivalent/Poised TSS	Fetal Thymus	thymus
2	chr14:37123400-37132000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr14:37125000-37130800	Bivalent/Poised TSS	Thymus	Thymus
4	chr14:37126200-37131400	Active TSS	Esophagus	oesophagus
5	chr14:37129000-37130400	Weak transcription	Gastric	stomach
6	chr14:37130000-37130400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
7	chr14:37130000-37130600	Bivalent Enhancer	Fetal Brain Female	brain
8	chr14:37130000-37130800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr14:37130000-37133800	Bivalent Enhancer	Liver	Liver
10	chr14:37130200-37130400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
11	chr14:37130200-37130400	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr14:37130200-37130400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr14:37130200-37130400	Bivalent/Poised TSS	Adipose Nuclei	Adipose
14	chr14:37130200-37130400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
15	chr14:37130200-37130400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
16	chr14:37130200-37130400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
17	chr14:37130200-37130600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
18	chr14:37130200-37130600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:37130200-37130600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr14:37130200-37130600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr14:37130200-37130600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
22	chr14:37130200-37130600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr14:37130200-37130600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
24	chr14:37130200-37130600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr14:37130200-37130600	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr14:37130200-37130600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr14:37130200-37130600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
28	chr14:37130200-37130600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr14:37130200-37130600	Bivalent Enhancer	Fetal Intestine Large	intestine
30	chr14:37130200-37130600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr14:37130200-37130600	Enhancers	Pancreas	Pancrea
32	chr14:37130200-37130600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
33	chr14:37130200-37130600	Enhancers	Right Atrium	heart
34	chr14:37130200-37130600	Bivalent Enhancer	Right Ventricle	heart
35	chr14:37130200-37130600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
36	chr14:37130200-37130800	Bivalent Enhancer	Fetal Muscle Leg	muscle
37	chr14:37130200-37130800	Bivalent Enhancer	Lung	lung
38	chr14:37130200-37130800	Bivalent Enhancer	Stomach Mucosa	stomach
39	chr14:37130200-37131000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
40	chr14:37130200-37131000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:37130200-37131200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
42	chr14:37130200-37131200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
43	chr14:37130200-37131800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
44	chr14:37130200-37132000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links