Variant report

Variant	rs939464
Chromosome Location	chr12:124434346-124434347
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	chr12:124433692-124434419	HepG2	liver:	n/a	n/a
2	HNF4G	chr12:124433854-124434410	HepG2	liver:	n/a	chr12:124434136-124434148 chr12:124434135-124434150 chr12:124434171-124434185 chr12:124434136-124434148 chr12:124434171-124434184 chr12:124434171-124434184 chr12:124434133-124434148 chr12:124434136-124434148 chr12:124434135-124434150 chr12:124434171-124434184 chr12:124434135-124434150 chr12:124434136-124434149 chr12:124434171-124434185 chr12:124434135-124434150 chr12:124434136-124434148
3	ARID3A	chr12:124433782-124434567	HepG2	liver:	n/a	n/a
4	HNF4G	chr12:124433708-124434434	HepG2	liver:	n/a	chr12:124434136-124434148 chr12:124434135-124434150 chr12:124434171-124434185 chr12:124434136-124434148 chr12:124434171-124434184 chr12:124434171-124434184 chr12:124434133-124434148 chr12:124434136-124434148 chr12:124433803-124433818 chr12:124434135-124434150 chr12:124434171-124434184 chr12:124434135-124434150 chr12:124434136-124434149 chr12:124434171-124434185 chr12:124434135-124434150 chr12:124434136-124434148
5	RFX5	chr12:124433858-124434396	HepG2	liver:	n/a	n/a
6	HDAC2	chr12:124433959-124434510	HepG2	liver:	n/a	n/a
7	CEBPB	chr12:124433942-124434692	HepG2	liver:	n/a	n/a
8	HNF4A	chr12:124433919-124434449	HepG2	liver:	n/a	chr12:124434136-124434148 chr12:124434135-124434150 chr12:124434171-124434185 chr12:124434136-124434148 chr12:124434171-124434184 chr12:124434171-124434184 chr12:124434136-124434148 chr12:124434135-124434150 chr12:124434171-124434184 chr12:124434170-124434185 chr12:124434135-124434150 chr12:124434136-124434149 chr12:124434171-124434185 chr12:124434134-124434149 chr12:124434135-124434150 chr12:124434136-124434148
9	SP1	chr12:124433906-124434395	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:124432308..124434626-chr12:124455003..124457050,2	K562	blood:
2	chr12:124433267..124435422-chr12:124476091..124477918,2	K562	blood:
3	chr12:124434208..124435911-chr12:124436038..124437708,2	K562	blood:

Variant related genes	Relation type
CCDC92	TF binding region
ENSG00000119242	Chromatin interaction
ENSG00000179195	Chromatin interaction
ENSG00000270095	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11608738	0.82[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs11829426	1.00[EUR][1000 genomes]
rs11835416	1.00[MEX][hapmap]
rs12099459	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1343668	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1873224	0.82[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55680811	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55996758	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56169314	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57352016	1.00[EUR][1000 genomes]
rs57531416	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57818143	0.94[AFR][1000 genomes]
rs58157153	0.97[AFR][1000 genomes]
rs58498731	1.00[EUR][1000 genomes]
rs58556542	1.00[EUR][1000 genomes]
rs58621770	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58788131	1.00[EUR][1000 genomes]
rs59002473	1.00[EUR][1000 genomes]
rs59035549	1.00[EUR][1000 genomes]
rs60560821	1.00[EUR][1000 genomes]
rs60980349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61151021	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61740383	1.00[EUR][1000 genomes]
rs61749063	1.00[EUR][1000 genomes]
rs7301547	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73409428	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7976904	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs952631	0.82[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124417600-124443600	Weak transcription	Fetal Kidney	kidney
2	chr12:124422400-124439200	Weak transcription	Psoas Muscle	Psoas
3	chr12:124423600-124442200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:124426800-124436800	Weak transcription	NHLF	lung
5	chr12:124427000-124455000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:124427200-124436800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:124427200-124456200	Weak transcription	Esophagus	oesophagus
8	chr12:124427400-124436200	Enhancers	Fetal Brain Male	brain
9	chr12:124427800-124436800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr12:124427800-124444800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:124427800-124453400	Weak transcription	A549	lung
12	chr12:124428400-124455800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:124428400-124456000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr12:124428800-124436400	Weak transcription	Fetal Heart	heart
15	chr12:124428800-124449800	Weak transcription	HSMM	muscle
16	chr12:124428800-124455800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr12:124430000-124435400	Weak transcription	NHDF-Ad	bronchial
18	chr12:124430000-124454800	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr12:124430000-124456200	Weak transcription	Fetal Thymus	thymus
20	chr12:124430200-124435000	Weak transcription	Aorta	Aorta
21	chr12:124430200-124443600	Weak transcription	Colon Smooth Muscle	Colon
22	chr12:124430200-124445600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:124430200-124453400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr12:124430200-124455600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:124430400-124435000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:124430400-124443600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:124430400-124449800	Weak transcription	Primary B cells from peripheral blood	blood
28	chr12:124430400-124450400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:124430400-124454800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:124430400-124455800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:124430400-124456000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr12:124430400-124456000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:124430400-124456000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:124430600-124434800	Weak transcription	Ovary	ovary
35	chr12:124430600-124435000	Weak transcription	Placenta	Placenta
36	chr12:124430600-124435000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr12:124430600-124435000	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr12:124430600-124435000	Weak transcription	Osteobl	bone
39	chr12:124430600-124436800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr12:124430600-124441800	Weak transcription	Primary B cells from cord blood	blood
41	chr12:124430600-124443000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:124430600-124452600	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr12:124430600-124456200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr12:124430800-124434800	Weak transcription	Pancreas	Pancrea
45	chr12:124431000-124443000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr12:124431200-124435400	Weak transcription	Spleen	Spleen
47	chr12:124431200-124436400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:124431800-124437000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:124431800-124455800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr12:124432400-124435200	Strong transcription	Fetal Stomach	stomach

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