Variant report

Variant	rs10861189
Chromosome Location	chr12:104702836-104702837
allele	C/T
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	chr12:104702278-104704036	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr12:104702806-104703953	Hela-S3	cervix:	n/a	n/a
3	SP1	chr12:104702767-104703970	A549	lung:	n/a	chr12:104703255-104703269
4	POLR2A	chr12:104702716-104703068	A549	lung:	n/a	n/a
5	POLR2A	chr12:104702686-104703997	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr12:104684682-104705657	A549	lung:	n/a	n/a
7	EP300	chr12:104702793-104703966	A549	lung:	n/a	n/a
8	TCF12	chr12:104702757-104704026	A549	lung:	n/a	n/a
9	POLR2A	chr12:104702299-104704281	PANC-1	pancreas:	n/a	n/a
10	POLR2A	chr12:104702763-104703004	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104696590..104698591-chr12:104702374..104705113,2	MCF-7	breast:
2	chr12:104702212..104703801-chr12:105351869..105353641,2	MCF-7	breast:

Variant related genes	Relation type
TXNRD1	TF binding region
ENSG00000255150	Chromatin interaction
ENSG00000136052	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10861191	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11111988	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12297201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12315416	1.00[AMR][1000 genomes]
rs12321623	1.00[AMR][1000 genomes]
rs13377693	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2888820	1.00[ASN][1000 genomes]
rs34030325	1.00[ASN][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	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1038609	chr12:104613847-104764981	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv541587	chr12:104613847-104764981	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv1048075	chr12:104694799-104751460	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv541588	chr12:104694799-104751460	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104683800-104723800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:104691800-104703400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:104697200-104706200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:104698000-104703000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:104698000-104703400	Weak transcription	Left Ventricle	heart
6	chr12:104698000-104704000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:104698000-104705000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:104698000-104707400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:104698000-104707600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:104698000-104707800	Weak transcription	Esophagus	oesophagus
11	chr12:104698000-104711400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:104698000-104716200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:104698200-104703000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr12:104698200-104703000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:104698200-104703600	Weak transcription	Pancreas	Pancrea
16	chr12:104698200-104704800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr12:104698200-104705000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:104698200-104705000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr12:104698200-104705000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:104698200-104705000	Weak transcription	Fetal Intestine Large	intestine
21	chr12:104698200-104706000	Weak transcription	Fetal Brain Male	brain
22	chr12:104698200-104706200	Weak transcription	Brain Germinal Matrix	brain
23	chr12:104698200-104708400	Genic enhancers	HUVEC	blood vessel
24	chr12:104698200-104708800	Weak transcription	Colonic Mucosa	Colon
25	chr12:104698400-104703000	Weak transcription	Fetal Thymus	thymus
26	chr12:104698400-104703400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr12:104698400-104704800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr12:104698400-104704800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr12:104698400-104705000	Weak transcription	Liver	Liver
30	chr12:104698400-104705000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr12:104698400-104705000	Weak transcription	Placenta	Placenta
32	chr12:104698400-104705200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr12:104698400-104705200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:104698400-104705200	Weak transcription	Primary B cells from peripheral blood	blood
35	chr12:104698400-104705200	Weak transcription	Fetal Muscle Leg	muscle
36	chr12:104698400-104705800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr12:104698400-104705800	Weak transcription	Fetal Brain Female	brain
38	chr12:104698400-104705800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr12:104698400-104706200	Weak transcription	Fetal Lung	lung
40	chr12:104698400-104707200	Weak transcription	Brain Substantia Nigra	brain
41	chr12:104698400-104707400	Weak transcription	Brain Angular Gyrus	brain
42	chr12:104698400-104707800	Weak transcription	Spleen	Spleen
43	chr12:104698400-104716600	Strong transcription	HSMM	muscle
44	chr12:104698400-104718400	Weak transcription	Stomach Mucosa	stomach
45	chr12:104698400-104720600	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr12:104698400-104747600	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr12:104698600-104703400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:104698600-104703600	Weak transcription	Fetal Stomach	stomach
49	chr12:104698600-104704600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr12:104698600-104705000	Weak transcription	Thymus	Thymus

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