Variant report

Variant	rs1527140
Chromosome Location	chr12:56994170-56994171
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56992973..56997884-chr12:57027374..57031905,8	K562	blood:
2	chr12:56994056..56995615-chr12:57001455..57004009,2	K562	blood:
3	chr12:56993930..56997262-chr12:57028560..57031023,3	K562	blood:
4	chr12:56992957..56994766-chr12:56997474..57000200,2	MCF-7	breast:
5	chr12:56991516..56994347-chr12:57026603..57029452,2	MCF-7	breast:
6	chr12:56990898..56994396-chr12:56995089..56998890,5	K562	blood:
7	chr12:56992042..56997013-chr12:57005431..57010145,6	K562	blood:

Variant related genes	Relation type
ENSG00000076108	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10876912	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11171909	0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11171910	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[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]
rs12312913	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12314491	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12321649	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17118865	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs17118901	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs17118921	1.00[CEU][hapmap]
rs1800638	0.84[EUR][1000 genomes]
rs2030909	1.00[CEU][hapmap]
rs57406430	0.84[EUR][1000 genomes]
rs59711560	1.00[EUR][1000 genomes]
rs7136370	0.84[EUR][1000 genomes]
rs7307578	1.00[CEU][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	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7974103	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs7974600	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs7977632	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs941210	1.00[CEU][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv899106	chr12:56905558-57004668	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	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
3	nsv973997	chr12:56992360-56996067	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 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	chr12:56988200-57000400	Strong transcription	Hela-S3	cervix
7	chr12:56988200-57001200	Strong transcription	Primary T cells from cord blood	blood
8	chr12:56988200-57010800	Weak transcription	Right Atrium	heart
9	chr12:56988200-57011400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:56988200-57011600	Strong transcription	Stomach Smooth Muscle	stomach
11	chr12:56988200-57015600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:56988400-57001000	Strong transcription	NHLF	lung
13	chr12:56988400-57001600	Strong transcription	A549	lung
14	chr12:56988400-57010800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr12:56988400-57011400	Strong transcription	Brain Germinal Matrix	brain
16	chr12:56988400-57016600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:56988400-57017400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:56988400-57018000	Strong transcription	Fetal Intestine Small	intestine
19	chr12:56988400-57018400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr12:56988400-57021600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:56988600-57000400	Strong transcription	HSMM	muscle
22	chr12:56988600-57001200	Strong transcription	NHEK	skin
23	chr12:56988600-57001800	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr12:56988600-57005200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:56988600-57010800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:56988600-57010800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr12:56988600-57012000	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr12:56988600-57017200	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr12:56988800-56995200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:56988800-57011400	Strong transcription	Lung	lung
31	chr12:56988800-57011800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:56988800-57012000	Strong transcription	NHDF-Ad	bronchial
33	chr12:56988800-57015200	Strong transcription	Duodenum Mucosa	Duodenum
34	chr12:56988800-57017600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:56988800-57021600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:56989000-56996000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:56989000-56998000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr12:56989000-57001600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr12:56989000-57001600	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr12:56989000-57012200	Strong transcription	Osteobl	bone
41	chr12:56989000-57017600	Strong transcription	Fetal Intestine Large	intestine
42	chr12:56989200-57001600	Strong transcription	Primary B cells from cord blood	blood
43	chr12:56989200-57011600	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr12:56989400-57001400	Strong transcription	Rectal Smooth Muscle	rectum
45	chr12:56989400-57001600	Strong transcription	Left Ventricle	heart
46	chr12:56989400-57001600	Strong transcription	Pancreas	Pancrea
47	chr12:56989400-57008800	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr12:56989400-57011400	Strong transcription	Brain Hippocampus Middle	brain
49	chr12:56989400-57019000	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr12:56989400-57020000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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