Variant report

Variant	rs73264305
Chromosome Location	chr14:31041665-31041666
allele	C/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	ARID3A	chr14:31041504-31041791	HepG2	liver:	n/a	n/a
2	GATA3	chr14:31041385-31041925	MCF-7	breast:	n/a	n/a
3	FOXA1	chr14:31041490-31041856	HepG2	liver:	n/a	n/a
4	FOXA1	chr14:31041393-31041872	HepG2	liver:	n/a	n/a
5	NR2F2	chr14:31041436-31041860	MCF-7	breast:	n/a	n/a
6	FOXA1	chr14:31041293-31041869	HepG2	liver:	n/a	n/a
7	FOXA2	chr14:31041478-31041811	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31041212..31042794-chr14:31090194..31092998,2	MCF-7	breast:

Variant related genes	Relation type
G2E3	TF binding region
ENSG00000092108	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12100621	0.87[AFR][1000 genomes]
rs73251168	0.87[AFR][1000 genomes]
rs73264353	1.00[AFR][1000 genomes]
rs73264358	0.97[AFR][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	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1036419	chr14:30969616-31224226	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31029000-31071800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:31029200-31042200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr14:31029200-31071800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:31029400-31059400	Weak transcription	Left Ventricle	heart
5	chr14:31029400-31060400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr14:31029800-31054000	Weak transcription	Fetal Intestine Large	intestine
7	chr14:31030200-31053200	Weak transcription	Fetal Muscle Leg	muscle
8	chr14:31030400-31042600	Weak transcription	Ovary	ovary
9	chr14:31030400-31042800	Weak transcription	Primary B cells from cord blood	blood
10	chr14:31030400-31044600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr14:31030400-31046600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr14:31030400-31050600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr14:31030400-31050600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr14:31030400-31056600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr14:31030400-31059200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr14:31030600-31042400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr14:31030600-31046600	Weak transcription	NH-A	brain
18	chr14:31030800-31046600	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr14:31031000-31042600	Weak transcription	Primary B cells from peripheral blood	blood
20	chr14:31031000-31052000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr14:31031200-31042000	Weak transcription	NHEK	skin
22	chr14:31032000-31067400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr14:31032200-31042200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr14:31032200-31046600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr14:31032200-31056400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr14:31032400-31049400	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr14:31032400-31067200	Weak transcription	Fetal Stomach	stomach
28	chr14:31032600-31051600	Weak transcription	Fetal Thymus	thymus
29	chr14:31032600-31051800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr14:31032800-31051600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr14:31032800-31053200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr14:31033600-31046600	Weak transcription	Thymus	Thymus
33	chr14:31033800-31046600	Weak transcription	Fetal Intestine Small	intestine
34	chr14:31033800-31070000	Weak transcription	Lung	lung
35	chr14:31034000-31043600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr14:31034000-31059200	Weak transcription	Fetal Lung	lung
37	chr14:31034200-31042400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr14:31034400-31051800	Weak transcription	HSMM	muscle
39	chr14:31035200-31042600	Weak transcription	Psoas Muscle	Psoas
40	chr14:31035200-31045400	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr14:31035600-31054400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr14:31038000-31044000	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr14:31038200-31041800	Enhancers	HepG2	liver
44	chr14:31038400-31041800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr14:31038600-31042600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr14:31038600-31042800	Enhancers	A549	lung
47	chr14:31039200-31042200	Weak transcription	Small Intestine	intestine
48	chr14:31039200-31042200	Weak transcription	HMEC	breast
49	chr14:31039200-31044600	Weak transcription	Aorta	Aorta
50	chr14:31039400-31042000	Weak transcription	K562	blood

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