Variant report

Variant	rs12466553
Chromosome Location	chr2:33411541-33411542
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33404885..33406677-chr2:33408653..33411758,3	K562	blood:
2	chr2:33409906..33412489-chr2:33417595..33419969,2	MCF-7	breast:

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10205739	0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs10211514	0.94[ASN][1000 genomes]
rs10495783	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs1065324	0.83[ASN][1000 genomes]
rs11124309	0.91[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs11681694	0.85[ASN][1000 genomes]
rs12104955	0.83[ASN][1000 genomes]
rs12476719	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12611532	0.91[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs12611549	0.83[ASN][1000 genomes]
rs12617948	0.83[ASN][1000 genomes]
rs12617970	0.83[ASN][1000 genomes]
rs1377947	0.80[JPT][hapmap];0.85[ASN][1000 genomes]
rs17566780	0.83[CHB][hapmap];0.83[ASN][1000 genomes]
rs17641062	0.82[ASN][1000 genomes]
rs17641115	0.91[CHB][hapmap];0.92[JPT][hapmap];0.94[ASN][1000 genomes]
rs1869542	0.86[ASN][1000 genomes]
rs2061026	0.84[ASN][1000 genomes]
rs2367619	0.93[ASN][1000 genomes]
rs2367620	0.89[ASN][1000 genomes]
rs2367624	0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs34577456	0.89[ASN][1000 genomes]
rs4542826	0.91[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs4670186	0.81[ASN][1000 genomes]
rs4670225	0.86[JPT][hapmap]
rs4670245	0.82[ASN][1000 genomes]
rs4670252	0.93[ASN][1000 genomes]
rs4670307	0.85[ASN][1000 genomes]
rs4670660	0.82[ASN][1000 genomes]
rs4670822	0.93[ASN][1000 genomes]
rs4670828	0.82[ASN][1000 genomes]
rs4670833	0.93[ASN][1000 genomes]
rs4670836	0.82[ASN][1000 genomes]
rs4670849	0.82[ASN][1000 genomes]
rs4670857	0.87[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs4670860	0.87[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs4670863	0.90[ASN][1000 genomes]
rs4670928	0.83[ASN][1000 genomes]
rs4671016	0.80[JPT][hapmap]
rs5006120	0.91[ASN][1000 genomes]
rs5006121	0.86[ASN][1000 genomes]
rs5006122	0.86[ASN][1000 genomes]
rs5006123	0.84[ASN][1000 genomes]
rs5006124	0.91[ASN][1000 genomes]
rs5006125	0.92[ASN][1000 genomes]
rs5006126	0.81[ASN][1000 genomes]
rs55911139	0.86[ASN][1000 genomes]
rs55957962	0.94[ASN][1000 genomes]
rs56282338	0.81[ASN][1000 genomes]
rs62146679	0.89[ASN][1000 genomes]
rs62146704	0.94[ASN][1000 genomes]
rs6543698	0.87[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs6543699	0.83[CHB][hapmap];0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs6543700	0.90[ASN][1000 genomes]
rs6707904	0.82[ASN][1000 genomes]
rs6707911	0.91[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs6707962	0.91[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs6708836	0.91[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs6712473	0.91[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs6720059	0.94[ASN][1000 genomes]
rs6720185	0.91[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs6720405	0.83[ASN][1000 genomes]
rs6736908	0.92[ASN][1000 genomes]
rs6743685	0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs6748806	0.92[ASN][1000 genomes]
rs6751657	0.86[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs6759943	0.81[JPT][hapmap];0.92[ASN][1000 genomes]
rs726429	0.82[ASN][1000 genomes]
rs7423390	0.80[JPT][hapmap];0.86[ASN][1000 genomes]
rs9308931	0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs964702	0.80[JPT][hapmap];0.86[ASN][1000 genomes]
rs964703	0.80[JPT][hapmap];0.87[ASN][1000 genomes]
rs996102	0.80[JPT][hapmap];0.86[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	nsv998167	chr2:33074313-33541100	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535623	chr2:33074313-33541100	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
5	esv33628	chr2:33257484-33455355	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv873790	chr2:33369582-33466483	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3387068	chr2:33404723-33413240	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33392200-33411800	Weak transcription	Left Ventricle	heart
2	chr2:33392800-33413600	Weak transcription	HUVEC	blood vessel
3	chr2:33394000-33420600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:33394400-33412000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:33394400-33415000	Weak transcription	NHDF-Ad	bronchial
6	chr2:33400400-33413600	Weak transcription	Liver	Liver
7	chr2:33403800-33418800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:33403800-33489800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:33404200-33413600	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:33406400-33419400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:33406600-33411800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr2:33406600-33412200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr2:33407000-33411800	Weak transcription	Osteobl	bone
14	chr2:33408000-33422400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:33408200-33423000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:33408400-33415400	Strong transcription	Muscle Satellite Cultured Cells	--
17	chr2:33408800-33412000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:33408800-33412000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:33408800-33413600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:33409000-33411600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:33409000-33412000	Weak transcription	Fetal Stomach	stomach
22	chr2:33409000-33412000	Weak transcription	NH-A	brain
23	chr2:33409000-33412200	Weak transcription	Fetal Muscle Leg	muscle
24	chr2:33409000-33412200	Weak transcription	Ovary	ovary
25	chr2:33409000-33417200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:33409200-33412000	Weak transcription	Aorta	Aorta
27	chr2:33409200-33413600	Weak transcription	Fetal Lung	lung
28	chr2:33409200-33441600	Weak transcription	Psoas Muscle	Psoas
29	chr2:33409600-33412000	Weak transcription	Fetal Heart	heart
30	chr2:33409600-33413600	Weak transcription	Right Ventricle	heart
31	chr2:33409600-33415200	Weak transcription	K562	blood
32	chr2:33409600-33415400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:33409800-33411600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:33409800-33413600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:33410200-33414000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr2:33410400-33413600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr2:33410400-33415600	Weak transcription	Fetal Intestine Large	intestine
38	chr2:33410400-33423800	Weak transcription	Placenta	Placenta
39	chr2:33410400-33438000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr2:33410600-33415600	Weak transcription	Duodenum Mucosa	Duodenum
41	chr2:33410600-33415600	Weak transcription	HSMMtube	muscle
42	chr2:33411200-33416000	Strong transcription	NHLF	lung

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