Variant report

Variant	rs12312913
Chromosome Location	chr12:57007469-57007470
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56992042..56997013-chr12:57005431..57010145,6	K562	blood:
2	chr12:57005351..57008593-chr12:57022462..57024744,3	MCF-7	breast:
3	chr12:57007109..57010688-chr12:57028709..57032558,4	K562	blood:
4	chr12:57006171..57009899-chr12:57021383..57024124,3	K562	blood:

Variant related genes	Relation type
ENSG00000076108	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10876912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11171909	1.00[ASW][hapmap];0.85[GIH][hapmap];0.98[LWK][hapmap];0.89[MKK][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11171910	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11831054	0.84[EUR][1000 genomes]
rs11837790	1.00[CEU][hapmap]
rs12296335	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12314491	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12321649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1527140	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17118865	1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[EUR][1000 genomes]
rs17118901	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs17118921	1.00[CEU][hapmap]
rs17118953	0.85[GIH][hapmap]
rs1800638	0.84[EUR][1000 genomes]
rs2030909	1.00[CEU][hapmap]
rs2470385	0.83[GIH][hapmap]
rs57406430	0.84[EUR][1000 genomes]
rs59711560	1.00[EUR][1000 genomes]
rs7136370	0.84[EUR][1000 genomes]
rs7307578	1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[EUR][1000 genomes]
rs74091637	0.84[EUR][1000 genomes]
rs74095026	0.84[EUR][1000 genomes]
rs7954160	0.84[EUR][1000 genomes]
rs7958515	0.84[EUR][1000 genomes]
rs7958539	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7974103	1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[EUR][1000 genomes]
rs7974600	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs7977632	1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[EUR][1000 genomes]
rs941210	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043992	chr12:56976326-57010458	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv525202	chr12:57004668-57013844	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56977600-57017000	Strong transcription	Placenta	Placenta
2	chr12:56979600-57020400	Strong transcription	Fetal Stomach	stomach
3	chr12:56987600-57012000	Strong transcription	Liver	Liver
4	chr12:56987600-57014800	Strong transcription	Adipose Nuclei	Adipose
5	chr12:56987600-57021000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr12:56988200-57010800	Weak transcription	Right Atrium	heart
7	chr12:56988200-57011400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:56988200-57011600	Strong transcription	Stomach Smooth Muscle	stomach
9	chr12:56988200-57015600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:56988400-57010800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr12:56988400-57011400	Strong transcription	Brain Germinal Matrix	brain
12	chr12:56988400-57016600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:56988400-57017400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:56988400-57018000	Strong transcription	Fetal Intestine Small	intestine
15	chr12:56988400-57018400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr12:56988400-57021600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:56988600-57010800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:56988600-57010800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr12:56988600-57012000	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr12:56988600-57017200	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr12:56988800-57011400	Strong transcription	Lung	lung
22	chr12:56988800-57011800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:56988800-57012000	Strong transcription	NHDF-Ad	bronchial
24	chr12:56988800-57015200	Strong transcription	Duodenum Mucosa	Duodenum
25	chr12:56988800-57017600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:56988800-57021600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:56989000-57012200	Strong transcription	Osteobl	bone
28	chr12:56989000-57017600	Strong transcription	Fetal Intestine Large	intestine
29	chr12:56989200-57011600	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr12:56989400-57008800	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr12:56989400-57011400	Strong transcription	Brain Hippocampus Middle	brain
32	chr12:56989400-57019000	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr12:56989400-57020000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr12:56989600-57011400	Strong transcription	H9 Cell Line	embryonic stem cell
35	chr12:56989600-57012800	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr12:56989600-57013200	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr12:56989600-57017400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:56989800-57014800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr12:56990000-57008800	Strong transcription	Right Ventricle	heart
40	chr12:56990000-57012200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr12:56990400-57016600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr12:56990600-57011000	Strong transcription	Brain Cingulate Gyrus	brain
43	chr12:56990600-57011400	Strong transcription	Aorta	Aorta
44	chr12:56990600-57011400	Strong transcription	Colon Smooth Muscle	Colon
45	chr12:56990600-57011400	Strong transcription	Spleen	Spleen
46	chr12:56990600-57011600	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr12:56990600-57016400	Strong transcription	Primary B cells from peripheral blood	blood
48	chr12:56990800-57007600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr12:56990800-57010200	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr12:56990800-57013000	Strong transcription	Duodenum Smooth Muscle	Duodenum

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