Variant report

Variant	rs12134276
Chromosome Location	chr1:212411280-212411281
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	MYC	chr1:212411052-212411303	MCF10A-Er-Src	breast:	n/a	n/a
2	JUND	chr1:212410997-212411281	HepG2	liver:	n/a	chr1:212411157-212411168
3	CUX1	chr1:212411007-212411322	K562	blood:	n/a	n/a
4	JUND	chr1:212411035-212411283	HepG2	liver:	n/a	chr1:212411157-212411168
5	MYC	chr1:212411031-212411332	MCF10A-Er-Src	breast:	n/a	n/a
6	MAX	chr1:212411181-212411306	GM12878	blood:	n/a	n/a
7	NFYB	chr1:212411000-212411318	GM12878	blood:	n/a	n/a
8	FOS	chr1:212411024-212411342	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr1:212411021-212411316	MCF10A-Er-Src	breast:	n/a	n/a
10	JUN	chr1:212411055-212411330	K562	blood:	n/a	n/a
11	FOS	chr1:212410994-212411344	MCF10A-Er-Src	breast:	n/a	n/a
12	EP300	chr1:212411007-212411304	K562	blood:	n/a	n/a
13	FOS	chr1:212410998-212411342	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr1:212411036-212411346	HCT-116	colon:	n/a	n/a
15	ARID3A	chr1:212410989-212411319	K562	blood:	n/a	n/a
16	POLR2A	chr1:212411046-212411449	MCF10A-Er-Src	breast:	n/a	n/a
17	EP300	chr1:212411033-212411318	GM12878	blood:	n/a	n/a
18	TBP	chr1:212410995-212411292	GM12878	blood:	n/a	n/a
19	FOSL1	chr1:212410872-212411408	HCT-116	colon:	n/a	n/a
20	SP1	chr1:212410907-212411429	HCT-116	colon:	n/a	n/a
21	RCOR1	chr1:212411267-212411280	GM12878	blood:	n/a	n/a
22	BATF	chr1:212410981-212411302	GM12878	blood:	n/a	chr1:212411159-212411170
23	BATF	chr1:212411069-212411384	GM12878	blood:	n/a	chr1:212411159-212411170
24	JUND	chr1:212410993-212411343	K562	blood:	n/a	chr1:212411157-212411168

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212408314..212411280-chr1:212781747..212784026,2	K562	blood:

Variant related genes	Relation type
ENSG00000226251	TF binding region
ENSG00000162772	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1011232	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs11119890	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs11119918	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs11119921	1.00[AFR][1000 genomes]
rs11119928	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs12116770	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12119183	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12127954	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs12133134	1.00[CEU][hapmap]
rs12133636	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs12134599	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs2236598	0.80[AMR][1000 genomes]
rs3754142	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212405600-212414800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:212405600-212416400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr1:212407600-212412400	Enhancers	Duodenum Mucosa	Duodenum
4	chr1:212407800-212412800	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr1:212408000-212411600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr1:212408000-212411800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:212408000-212413000	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr1:212408200-212415400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr1:212408400-212411600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr1:212408400-212415600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr1:212408600-212411600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:212408600-212411600	Weak transcription	Adipose Nuclei	Adipose
13	chr1:212408600-212411600	Weak transcription	Brain Anterior Caudate	brain
14	chr1:212408600-212411600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:212408600-212411600	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:212408600-212411600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:212408600-212411600	Weak transcription	Spleen	Spleen
18	chr1:212408600-212411600	Weak transcription	HUVEC	blood vessel
19	chr1:212408600-212411800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:212408600-212411800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr1:212408600-212412000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr1:212408600-212414800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:212408600-212415000	Enhancers	K562	blood
24	chr1:212408600-212416000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr1:212408600-212416200	Weak transcription	Fetal Stomach	stomach
26	chr1:212408800-212411600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:212408800-212411600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:212408800-212411600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr1:212409000-212411800	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr1:212409000-212413000	Enhancers	Fetal Intestine Small	intestine
31	chr1:212409000-212413000	Enhancers	Gastric	stomach
32	chr1:212409000-212413200	Enhancers	Fetal Intestine Large	intestine
33	chr1:212409200-212411600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:212409200-212411600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr1:212409400-212413000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:212409600-212411600	Weak transcription	Right Atrium	heart
37	chr1:212409600-212412800	Enhancers	Liver	Liver
38	chr1:212409800-212411800	Weak transcription	Fetal Muscle Leg	muscle
39	chr1:212410000-212411600	Weak transcription	Esophagus	oesophagus
40	chr1:212410200-212411800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:212410200-212412000	Enhancers	HepG2	liver
42	chr1:212410200-212417000	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr1:212410400-212411400	Weak transcription	Colonic Mucosa	Colon
44	chr1:212410400-212411600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr1:212410400-212411600	Weak transcription	Left Ventricle	heart
46	chr1:212410400-212411600	Weak transcription	Lung	lung
47	chr1:212410400-212411600	Weak transcription	Pancreas	Pancrea
48	chr1:212410400-212411600	Weak transcription	Psoas Muscle	Psoas
49	chr1:212410400-212411600	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr1:212410400-212411800	Weak transcription	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links