Variant report

Variant	rs12053233
Chromosome Location	chr2:74451762-74451763
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:74435694..74437496-chr2:74451439..74453723,2	MCF-7	breast:
2	chr2:74425747..74427720-chr2:74449466..74452085,3	MCF-7	breast:
3	chr2:74424334..74427381-chr2:74449199..74452951,3	MCF-7	breast:
4	chr2:74373555..74376913-chr2:74449791..74454753,5	K562	blood:

Variant related genes	Relation type
ENSG00000225439	Chromatin interaction
ENSG00000065911	Chromatin interaction
ENSG00000163170	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10186159	0.84[ASN][1000 genomes]
rs13002080	1.00[YRI][hapmap]
rs13006863	0.91[CEU][hapmap];0.96[CHD][hapmap];0.96[GIH][hapmap];0.84[JPT][hapmap];0.83[TSI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13034587	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34481365	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4853018	1.00[CHD][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs702462	0.82[GIH][hapmap]
rs7340453	0.82[GIH][hapmap]
rs7579359	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7587117	0.95[CEU][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3427010	chr2:74351730-74813541	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
2	nsv834261	chr2:74391709-74613720	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	esv3401140	chr2:74439333-74533696	Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	esv3380034	chr2:74439354-74533666	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74427400-74453000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:74427400-74453200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:74427400-74460200	Weak transcription	Brain Substantia Nigra	brain
4	chr2:74427400-74462000	Weak transcription	Brain Angular Gyrus	brain
5	chr2:74427400-74484400	Weak transcription	Fetal Lung	lung
6	chr2:74427800-74494200	Weak transcription	Brain Germinal Matrix	brain
7	chr2:74429000-74453200	Weak transcription	Ovary	ovary
8	chr2:74429200-74452800	Weak transcription	Fetal Heart	heart
9	chr2:74433800-74461800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:74434000-74453000	Weak transcription	Psoas Muscle	Psoas
11	chr2:74435800-74454000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:74436000-74453000	Weak transcription	Stomach Mucosa	stomach
13	chr2:74437600-74453000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr2:74439200-74453800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr2:74439800-74525200	Weak transcription	Fetal Brain Male	brain
16	chr2:74441000-74458600	Weak transcription	Fetal Intestine Small	intestine
17	chr2:74441800-74453000	Weak transcription	Gastric	stomach
18	chr2:74441800-74453000	Weak transcription	Pancreas	Pancrea
19	chr2:74441800-74453800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:74441800-74453800	Weak transcription	Esophagus	oesophagus
21	chr2:74441800-74458200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:74441800-74466000	Weak transcription	Adipose Nuclei	Adipose
23	chr2:74441800-74490400	Weak transcription	Fetal Brain Female	brain
24	chr2:74442200-74453200	Weak transcription	Placenta	Placenta
25	chr2:74442400-74455000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr2:74442400-74477400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr2:74442800-74465200	Weak transcription	Primary B cells from peripheral blood	blood
28	chr2:74443400-74460600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:74444200-74456200	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr2:74444800-74494200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr2:74446600-74453800	Weak transcription	Right Ventricle	heart
32	chr2:74446800-74453200	Weak transcription	HSMM	muscle
33	chr2:74446800-74453800	Weak transcription	Aorta	Aorta
34	chr2:74447200-74455800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr2:74447400-74453000	Weak transcription	Fetal Muscle Leg	muscle
36	chr2:74447400-74455200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr2:74447400-74455800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr2:74447400-74456000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr2:74447400-74463000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:74447600-74451800	Weak transcription	GM12878-XiMat	blood
41	chr2:74447600-74453000	Weak transcription	Left Ventricle	heart
42	chr2:74447600-74453800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:74447600-74454000	Weak transcription	Duodenum Mucosa	Duodenum
44	chr2:74447600-74455800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr2:74448400-74452600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:74448800-74494000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr2:74449000-74458400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr2:74449200-74453000	Weak transcription	Fetal Muscle Trunk	muscle
49	chr2:74449200-74453400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:74449200-74465200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links