Variant report

Variant	rs36234207
Chromosome Location	chr12:57506741-57506742
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	RAD21	chr12:57503964-57506772	HCT-116	colon:	n/a	chr12:57506272-57506291 chr12:57504562-57504572 chr12:57506275-57506288 chr12:57506276-57506286 chr12:57506274-57506286 chr12:57504560-57504572
2	MXI1	chr12:57504930-57506788	SK-N-SH	brain:	n/a	n/a
3	MXI1	chr12:57503819-57506989	IMR90	lung:	n/a	n/a
4	CTCF	chr12:57506740-57506890	GM12873	blood:	n/a	n/a
5	MAZ	chr12:57503971-57507229	IMR90	lung:	n/a	chr12:57506884-57506900 chr12:57505284-57505293 chr12:57505018-57505028 chr12:57506881-57506891 chr12:57505282-57505289 chr12:57505281-57505290 chr12:57506880-57506895 chr12:57505280-57505295 chr12:57506878-57506893
6	RAD21	chr12:57504950-57506818	SK-N-SH	brain:	n/a	chr12:57506272-57506291 chr12:57506275-57506288 chr12:57506276-57506286 chr12:57506274-57506286
7	CTCF	chr12:57504959-57506887	HCT-116	colon:	n/a	chr12:57506277-57506287 chr12:57506274-57506292 chr12:57506276-57506289 chr12:57505530-57505543 chr12:57506280-57506289 chr12:57506269-57506290
8	SMC3	chr12:57505377-57506860	SK-N-SH	brain:	n/a	chr12:57506276-57506290 chr12:57506276-57506286
9	CTCF	chr12:57506620-57506770	AG04450	lung:	n/a	n/a
10	ZNF263	chr12:57504933-57506912	HEK293-T-REx	kidney:	n/a	chr12:57506314-57506323 chr12:57506106-57506115 chr12:57506223-57506232 chr12:57506212-57506233
11	MAX	chr12:57503873-57506746	HCT-116	colon:	n/a	chr12:57505284-57505293 chr12:57505018-57505028 chr12:57505282-57505289 chr12:57505281-57505290 chr12:57505280-57505295 chr12:57505280-57505290

No.	Distal block	Cell Line	Cell type
1	chr12:57504145..57507554-chr12:57578690..57582057,3	MCF-7	breast:
2	chr12:57503986..57506964-chr12:57847315..57851029,3	K562	blood:
3	chr12:57401950..57404311-chr12:57505610..57507780,2	K562	blood:
4	chr12:57117747..57120933-chr12:57504153..57507822,3	MCF-7	breast:
5	chr12:57504588..57507979-chr12:57520002..57522760,4	K562	blood:
6	chr12:57463994..57465894-chr12:57505343..57507768,2	K562	blood:
7	chr12:57146289..57148785-chr12:57505531..57507402,2	MCF-7	breast:
8	chr12:57505278..57506837-chr12:57520927..57523823,2	K562	blood:
9	chr12:57401664..57402643-chr12:57505335..57506942,7	MCF-7	breast:

Variant related genes	Relation type
STAT6	TF binding region
ENSG00000123384	Chromatin interaction
ENSG00000139269	Chromatin interaction
ENSG00000166888	Chromatin interaction
ENSG00000196531	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10467125	1.00[ASN][1000 genomes]
rs11172112	1.00[ASN][1000 genomes]
rs12307379	1.00[ASN][1000 genomes]
rs12721590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2270735	1.00[AFR][1000 genomes]
rs3024948	0.96[ASN][1000 genomes]
rs3024950	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3024963	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36234211	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306742	1.00[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	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv428590	chr12:57329214-57527358	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv832428	chr12:57340609-57535694	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	103 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57503400-57506800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr12:57505200-57506800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:57505200-57506800	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr12:57505200-57506800	Flanking Active TSS	HMEC	breast
5	chr12:57505200-57506800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr12:57505200-57507000	Flanking Active TSS	Dnd41	blood
7	chr12:57505600-57507000	Flanking Active TSS	Hela-S3	cervix
8	chr12:57505800-57507000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:57505800-57521800	Weak transcription	Spleen	Spleen
10	chr12:57506200-57506800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr12:57506200-57506800	Enhancers	Fetal Heart	heart
12	chr12:57506200-57507000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:57506200-57507000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:57506200-57507000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:57506200-57507000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:57506200-57507000	Enhancers	Fetal Thymus	thymus
17	chr12:57506200-57507000	Flanking Active TSS	HepG2	liver
18	chr12:57506200-57512600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:57506200-57520000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:57506200-57520400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:57506400-57506800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:57506400-57506800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:57506400-57506800	Enhancers	Primary B cells from cord blood	blood
24	chr12:57506400-57506800	Enhancers	Primary B cells from peripheral blood	blood
25	chr12:57506400-57506800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr12:57506400-57506800	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr12:57506400-57506800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr12:57506400-57506800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:57506400-57506800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:57506400-57506800	Enhancers	Liver	Liver
31	chr12:57506400-57506800	Weak transcription	Esophagus	oesophagus
32	chr12:57506400-57506800	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr12:57506400-57506800	Enhancers	Fetal Stomach	stomach
34	chr12:57506400-57506800	Enhancers	K562	blood
35	chr12:57506400-57506800	Enhancers	Osteobl	bone
36	chr12:57506400-57507000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:57506400-57507000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr12:57506400-57507000	Enhancers	Primary T cells fromperipheralblood	blood
39	chr12:57506400-57507000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:57506400-57507000	Enhancers	Adipose Nuclei	Adipose
41	chr12:57506400-57507000	Enhancers	Duodenum Mucosa	Duodenum
42	chr12:57506400-57507000	Enhancers	Pancreas	Pancrea
43	chr12:57506400-57507000	Enhancers	Placenta Amnion	Placenta Amnion
44	chr12:57506400-57507000	Enhancers	NHDF-Ad	bronchial
45	chr12:57506400-57507000	Enhancers	NHLF	lung
46	chr12:57506400-57507200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:57506400-57507200	Enhancers	Fetal Intestine Small	intestine
48	chr12:57506400-57508200	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr12:57506400-57512600	Weak transcription	Right Atrium	heart
50	chr12:57506600-57506800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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