Variant report

Variant	rs4135052
Chromosome Location	chr12:104362736-104362737
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	POLR2A	chr12:104362621-104362790	HepG2	liver:	n/a	n/a
2	JUND	chr12:104362731-104363845	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:104312881..104315821-chr12:104362350..104364387,2	K562	blood:
2	chr12:104362237..104366185-chr12:104369419..104371303,3	MCF-7	breast:
3	chr12:104323420..104325747-chr12:104361567..104364932,4	MCF-7	breast:
4	chr12:104361070..104362835-chr12:104394971..104397683,2	MCF-7	breast:

Variant related genes	Relation type
C12orf73	TF binding region
ENSG00000265072	Chromatin interaction
ENSG00000214198	Chromatin interaction
ENSG00000166598	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10507172	0.98[ASN][1000 genomes]
rs10507173	0.98[ASN][1000 genomes]
rs10861147	0.89[ASN][1000 genomes]
rs10861148	0.98[ASN][1000 genomes]
rs10861153	0.83[ASN][1000 genomes]
rs11111858	1.00[ASN][1000 genomes]
rs11111862	0.80[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11111863	0.96[ASN][1000 genomes]
rs11111865	0.83[ASN][1000 genomes]
rs11111866	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1437502	0.90[ASN][1000 genomes]
rs2164747	0.98[ASN][1000 genomes]
rs2293620	1.00[ASN][1000 genomes]
rs2293624	0.98[ASN][1000 genomes]
rs3751210	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3817602	0.83[ASN][1000 genomes]
rs3829301	0.96[ASN][1000 genomes]
rs4135054	1.00[ASN][1000 genomes]
rs4135068	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4135079	0.98[ASN][1000 genomes]
rs4135102	0.93[ASN][1000 genomes]
rs4135103	0.93[ASN][1000 genomes]
rs4135109	0.93[ASN][1000 genomes]
rs4135113	0.88[ASN][1000 genomes]
rs4135115	0.88[ASN][1000 genomes]
rs4135126	0.88[ASN][1000 genomes]
rs57179875	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60033863	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60696717	0.93[ASN][1000 genomes]
rs61069788	0.90[ASN][1000 genomes]
rs61646543	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7137924	0.83[ASN][1000 genomes]
rs7295650	0.83[ASN][1000 genomes]
rs7305770	0.83[ASN][1000 genomes]
rs7310423	0.95[ASN][1000 genomes]
rs73388292	0.98[ASN][1000 genomes]
rs73390443	0.83[ASN][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	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv3359723	chr12:104359646-104370785	Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104358600-104363600	Active TSS	Right Ventricle	heart
2	chr12:104360400-104363200	Weak transcription	Gastric	stomach
3	chr12:104360400-104368000	Weak transcription	Pancreas	Pancrea
4	chr12:104360800-104363800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr12:104360800-104363800	Enhancers	Liver	Liver
6	chr12:104360800-104366800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:104360800-104368000	Weak transcription	Lung	lung
8	chr12:104360800-104371200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:104360800-104371200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:104360800-104371200	Weak transcription	Colonic Mucosa	Colon
11	chr12:104360800-104371800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:104360800-104378600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr12:104360800-104381000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:104361000-104363000	Weak transcription	Brain Substantia Nigra	brain
15	chr12:104361000-104363200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr12:104361000-104363400	Enhancers	Fetal Heart	heart
17	chr12:104361000-104363600	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr12:104361000-104363600	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr12:104361000-104364200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr12:104361000-104365600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr12:104361000-104365800	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr12:104361000-104367000	Weak transcription	Fetal Intestine Large	intestine
23	chr12:104361000-104368800	Weak transcription	Brain Hippocampus Middle	brain
24	chr12:104361000-104370800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr12:104361000-104371000	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr12:104361000-104371000	Weak transcription	Fetal Kidney	kidney
27	chr12:104361000-104372000	Weak transcription	Stomach Mucosa	stomach
28	chr12:104361200-104362800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr12:104361200-104362800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:104361200-104362800	Enhancers	HUVEC	blood vessel
31	chr12:104361200-104362800	Weak transcription	NHDF-Ad	bronchial
32	chr12:104361200-104363000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr12:104361200-104363000	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr12:104361200-104363000	Weak transcription	NHLF	lung
35	chr12:104361200-104363600	Enhancers	Brain Angular Gyrus	brain
36	chr12:104361200-104363800	Enhancers	HMEC	breast
37	chr12:104361200-104366800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr12:104361200-104367000	Weak transcription	Fetal Stomach	stomach
39	chr12:104361200-104367400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr12:104361200-104369400	Weak transcription	Right Atrium	heart
41	chr12:104361200-104370400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr12:104361200-104370800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr12:104361200-104370800	Weak transcription	Fetal Lung	lung
44	chr12:104361200-104371000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr12:104361200-104371000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr12:104361200-104379400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr12:104361400-104363600	Genic enhancers	Primary T cells from cord blood	blood
48	chr12:104361400-104363600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:104361400-104363600	Genic enhancers	Muscle Satellite Cultured Cells	--
50	chr12:104361600-104363200	Strong transcription	H1 Cell Line	embryonic stem cell

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