Variant report

Variant	rs41497147
Chromosome Location	chr12:106699151-106699152
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	POLR2A	chr12:106696219-106699729	MCF10A-Er-Src	breast:	n/a	n/a
2	STAT3	chr12:106699099-106699482	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr12:106695130-106701174	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr12:106699146-106699575	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr12:106699002-106699241	HepG2	liver:	n/a	n/a
6	STAT3	chr12:106698767-106699290	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:106695562..106697778-chr12:106698885..106700984,2	K562	blood:
2	chr12:106693434..106696954-chr12:106697519..106701215,4	MCF-7	breast:
3	chr12:106698636..106700298-chr12:106705423..106707807,2	K562	blood:

Variant related genes	Relation type
CKAP4	TF binding region
ENSG00000166046	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11832175	1.00[ASW][hapmap];0.90[LWK][hapmap];0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11832187	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11836922	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17038339	0.89[ASW][hapmap];0.83[MKK][hapmap];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1794382	chr12:106679812-106699151	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106697200-106700000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr12:106697200-106700000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr12:106697200-106702600	Enhancers	Fetal Heart	heart
4	chr12:106697400-106699400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:106697600-106699200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:106697600-106699200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr12:106697600-106699200	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
8	chr12:106697600-106699800	Flanking Active TSS	Brain Substantia Nigra	brain
9	chr12:106697600-106700000	Flanking Active TSS	Brain Hippocampus Middle	brain
10	chr12:106697600-106700600	Weak transcription	A549	lung
11	chr12:106697800-106699200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr12:106697800-106699400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:106697800-106699400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr12:106697800-106699400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr12:106697800-106699800	Enhancers	Gastric	stomach
16	chr12:106697800-106700600	Enhancers	Stomach Mucosa	stomach
17	chr12:106697800-106701200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr12:106697800-106702800	Weak transcription	NHEK	skin
19	chr12:106697800-106703400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:106697800-106703600	Enhancers	Fetal Intestine Large	intestine
21	chr12:106698000-106699200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:106698000-106699400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr12:106698000-106699800	Genic enhancers	Primary B cells from peripheral blood	blood
24	chr12:106698000-106699800	Enhancers	Pancreas	Pancrea
25	chr12:106698000-106699800	Enhancers	Psoas Muscle	Psoas
26	chr12:106698000-106702200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr12:106698000-106702200	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr12:106698000-106702600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:106698000-106702600	Weak transcription	HSMM	muscle
30	chr12:106698000-106703000	Weak transcription	NHLF	lung
31	chr12:106698000-106704000	Weak transcription	GM12878-XiMat	blood
32	chr12:106698000-106705600	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr12:106698000-106708400	Weak transcription	Small Intestine	intestine
34	chr12:106698000-106709000	Weak transcription	Fetal Muscle Trunk	muscle
35	chr12:106698200-106699200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr12:106698200-106699200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:106698200-106699400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:106698200-106699400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr12:106698200-106699400	Enhancers	Colonic Mucosa	Colon
40	chr12:106698200-106699600	Flanking Active TSS	Brain Cingulate Gyrus	brain
41	chr12:106698200-106699600	Enhancers	Fetal Kidney	kidney
42	chr12:106698200-106699600	Enhancers	Rectal Smooth Muscle	rectum
43	chr12:106698200-106699800	Genic enhancers	Primary T cells fromperipheralblood	blood
44	chr12:106698200-106699800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr12:106698200-106699800	Enhancers	Adipose Nuclei	Adipose
46	chr12:106698200-106699800	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr12:106698200-106699800	Enhancers	Lung	lung
48	chr12:106698200-106700200	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr12:106698200-106700600	Weak transcription	Fetal Intestine Small	intestine
50	chr12:106698200-106701000	Enhancers	Primary hematopoietic stem cells	blood

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