Variant report

Variant	rs534584647
Chromosome Location	chr2:47167456-47167457
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	SP1	chr2:47167281-47168223	A549	lung:	n/a	chr2:47167597-47167606 chr2:47168108-47168117 chr2:47167596-47167608 chr2:47167925-47167937 chr2:47167925-47167937 chr2:47167596-47167608 chr2:47167598-47167607 chr2:47168104-47168118 chr2:47168107-47168119 chr2:47167927-47167936 chr2:47167597-47167606
2	RAD21	chr2:47167389-47167934	IMR90	lung:	n/a	n/a
3	ZNF263	chr2:47167047-47167629	K562	blood:	n/a	n/a
4	ZKSCAN1	chr2:47167086-47167487	Hela-S3	cervix:	n/a	n/a
5	MXI1	chr2:47166976-47169461	HepG2	liver:	n/a	n/a
6	GATA3	chr2:47167309-47169655	A549	lung:	n/a	chr2:47169431-47169439
7	GTF2F1	chr2:47167321-47167855	Hela-S3	cervix:	n/a	n/a
8	MAX	chr2:47167138-47169869	Hela-S3	cervix:	n/a	chr2:47168106-47168116 chr2:47169037-47169048 chr2:47167751-47167760
9	SMARCB1	chr2:47167445-47169505	Hela-S3	cervix:	n/a	n/a
10	ZNF263	chr2:47167014-47167636	HEK293-T-REx	kidney:	n/a	n/a
11	POLR2A	chr2:47166646-47169549	HepG2	liver:	n/a	n/a
12	SP1	chr2:47167379-47168156	A549	lung:	n/a	chr2:47167597-47167606 chr2:47168108-47168117 chr2:47167596-47167608 chr2:47167925-47167937 chr2:47167925-47167937 chr2:47167596-47167608 chr2:47167598-47167607 chr2:47168104-47168118 chr2:47168107-47168119 chr2:47167927-47167936 chr2:47167597-47167606
13	HEY1	chr2:47167080-47169431	HepG2	liver:	n/a	chr2:47167527-47167542
14	SIN3AK20	chr2:47167406-47169834	MCF-7	breast:	n/a	n/a
15	POLR2A	chr2:47167277-47169628	Hela-S3	cervix:	n/a	n/a
16	MAX	chr2:47166482-47169616	HepG2	liver:	n/a	chr2:47168106-47168116 chr2:47169037-47169048 chr2:47166847-47166856 chr2:47167751-47167760
17	RUNX3	chr2:47167175-47167688	GM12878	blood:	n/a	n/a
18	POLR2A	chr2:47167296-47169140	IMR90	lung:	n/a	n/a
19	MXI1	chr2:47167052-47169691	SK-N-SH	brain:	n/a	n/a
20	E2F6	chr2:47167271-47168271	A549	lung:	n/a	chr2:47168108-47168120 chr2:47167583-47167593 chr2:47167527-47167537
21	TFAP2A	chr2:47166511-47169094	Hela-S3	cervix:	n/a	chr2:47166818-47166829 chr2:47166818-47166829 chr2:47166814-47166829 chr2:47166818-47166829 chr2:47166818-47166829
22	POLR2A	chr2:47167335-47169168	HepG2	liver:	n/a	n/a
23	MAX	chr2:47167200-47167648	GM12878	blood:	n/a	n/a
24	RFX5	chr2:47167363-47167554	GM12878	blood:	n/a	n/a
25	POLR2A	chr2:47167388-47167768	HepG2	liver:	n/a	n/a
26	MAZ	chr2:47167315-47169681	Hela-S3	cervix:	n/a	chr2:47168106-47168116 chr2:47169037-47169048 chr2:47167751-47167760
27	RAD21	chr2:47167432-47167807	Hela-S3	cervix:	n/a	n/a
28	TCF7L2	chr2:47166677-47168133	Hela-S3	cervix:	n/a	chr2:47166924-47166934 chr2:47166926-47166935
29	REST	chr2:47167409-47168112	A549	lung:	n/a	chr2:47167521-47167539 chr2:47167951-47167961 chr2:47167930-47167943 chr2:47167937-47167946 chr2:47167533-47167546
30	MAX	chr2:47167034-47169701	A549	lung:	n/a	chr2:47168106-47168116 chr2:47169037-47169048 chr2:47167751-47167760
31	HMGN3	chr2:47167434-47169095	K562	blood:	n/a	n/a
32	POLR2A	chr2:47166646-47169518	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr2:47167328-47167786	HepG2	liver:	n/a	n/a
34	MAZ	chr2:47166483-47170044	IMR90	lung:	n/a	chr2:47168106-47168116 chr2:47169037-47169048 chr2:47166847-47166856 chr2:47167751-47167760
35	CREB1	chr2:47167220-47169621	HepG2	liver:	n/a	chr2:47168009-47168022
36	EP300	chr2:47167432-47169288	SK-N-SH	brain:	n/a	chr2:47168025-47168041 chr2:47167530-47167546 chr2:47168948-47168964
37	POLR2A	chr2:47167269-47169535	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr2:47167260-47168510	HepG2	liver:	n/a	n/a
39	ZBTB7A	chr2:47167439-47167674	HepG2	liver:	n/a	n/a
40	RUNX3	chr2:47167146-47167923	GM12878	blood:	n/a	n/a
41	POLR2A	chr2:47167280-47168583	U87	brain:	n/a	n/a
42	TBL1XR1	chr2:47167232-47167621	GM12878	blood:	n/a	n/a
43	RCOR1	chr2:47166789-47168450	Hela-S3	cervix:	n/a	n/a
44	MAX	chr2:47166973-47170077	A549	lung:	n/a	chr2:47168106-47168116 chr2:47169037-47169048 chr2:47167751-47167760
45	TCF12	chr2:47166525-47169821	A549	lung:	n/a	chr2:47168022-47168032 chr2:47166841-47166849
46	MXI1	chr2:47166913-47169815	IMR90	lung:	n/a	n/a
47	FOSL2	chr2:47167447-47168128	A549	lung:	n/a	n/a
48	TFAP2C	chr2:47166619-47169130	Hela-S3	cervix:	n/a	chr2:47166814-47166829
49	BRCA1	chr2:47167343-47167540	HepG2	liver:	n/a	n/a
50	BHLHE40	chr2:47167320-47167564	GM12878	blood:	n/a	chr2:47167531-47167547

No.	Distal block	Cell Line	Cell type
1	chr2:47166662..47168239-chr2:47214409..47216366,2	MCF-7	breast:
2	chr2:47166915..47170495-chr2:47399445..47404516,7	MCF-7	breast:
3	chr2:47166648..47168601-chr2:47272959..47275479,2	MCF-7	breast:
4	chr2:47166510..47168193-chr2:47197498..47199709,2	MCF-7	breast:
5	chr2:47166485..47169114-chr2:47402596..47405123,4	MCF-7	breast:
6	chr2:46768715..46770395-chr2:47165746..47168568,2	MCF-7	breast:
7	chr2:47135393..47141252-chr2:47166022..47170880,5	K562	blood:
8	chr2:47165446..47170208-chr2:47173646..47177856,9	MCF-7	breast:
9	chr2:47143277..47146895-chr2:47166934..47170660,7	MCF-7	breast:
10	chr2:47167291..47170086-chr2:47204793..47207048,4	MCF-7	breast:
11	chr2:47126017..47127666-chr2:47165711..47167626,2	MCF-7	breast:
12	chr2:47139886..47146981-chr2:47165365..47170438,17	MCF-7	breast:
13	chr2:47166107..47171055-chr2:47402078..47404965,9	K562	blood:

Variant related genes	Relation type
TTC7A	TF binding region
ENSG00000228925	Chromatin interaction
ENSG00000250565	Chromatin interaction
ENSG00000119729	Chromatin interaction
ENSG00000180398	Chromatin interaction
ENSG00000143933	Chromatin interaction
ENSG00000068724	Chromatin interaction

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

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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription 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	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
5	nsv524970	chr2:47162739-47302095	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	esv3427405	chr2:47166973-47169821	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
7	esv3332265	chr2:47167448-47169546	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47166400-47167600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr2:47166400-47167600	Enhancers	Dnd41	blood
3	chr2:47166400-47167800	Flanking Active TSS	Hela-S3	cervix
4	chr2:47166600-47167600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:47166600-47167600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:47166600-47167600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:47166600-47167600	Enhancers	Fetal Intestine Small	intestine
8	chr2:47166600-47167600	Enhancers	Right Ventricle	heart
9	chr2:47166600-47167600	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr2:47166600-47167600	Enhancers	Stomach Mucosa	stomach
11	chr2:47166600-47167800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:47166600-47167800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:47166600-47167800	Enhancers	Left Ventricle	heart
14	chr2:47166600-47167800	Enhancers	Lung	lung
15	chr2:47166600-47167800	Enhancers	Pancreas	Pancrea
16	chr2:47166600-47167800	Enhancers	Placenta Amnion	Placenta Amnion
17	chr2:47166600-47167800	Enhancers	Spleen	Spleen
18	chr2:47166600-47168000	Enhancers	Fetal Heart	heart
19	chr2:47166800-47167600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:47166800-47167600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:47166800-47167600	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr2:47166800-47167600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:47166800-47167600	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr2:47166800-47167600	Flanking Active TSS	Thymus	Thymus
25	chr2:47166800-47167600	Flanking Active TSS	GM12878-XiMat	blood
26	chr2:47166800-47167800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:47166800-47167800	Enhancers	Small Intestine	intestine
28	chr2:47166800-47167800	Flanking Active TSS	A549	lung
29	chr2:47166800-47168000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr2:47166800-47168000	Flanking Active TSS	Fetal Thymus	thymus
31	chr2:47166800-47168000	Flanking Active TSS	HSMM	muscle
32	chr2:47167000-47167600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:47167000-47167600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr2:47167000-47167600	Enhancers	Primary T cells fromperipheralblood	blood
35	chr2:47167000-47167600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr2:47167000-47167600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr2:47167000-47167600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr2:47167000-47167600	Enhancers	Brain Anterior Caudate	brain
39	chr2:47167000-47167600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr2:47167000-47167600	Enhancers	Brain Substantia Nigra	brain
41	chr2:47167000-47167600	Enhancers	Esophagus	oesophagus
42	chr2:47167000-47167600	Enhancers	Fetal Lung	lung
43	chr2:47167000-47167600	Flanking Active TSS	NHDF-Ad	bronchial
44	chr2:47167000-47167800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:47167000-47167800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr2:47167000-47167800	Enhancers	Aorta	Aorta
47	chr2:47167000-47167800	Flanking Active TSS	Duodenum Mucosa	Duodenum
48	chr2:47167000-47167800	Flanking Active TSS	HSMMtube	muscle
49	chr2:47167000-47167800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr2:47167000-47168000	Flanking Active TSS	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links