Variant report

Variant	rs11060942
Chromosome Location	chr12:123434524-123434525
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123426745..123429433-chr12:123432536..123436941,4	K562	blood:
2	chr12:123318920..123320804-chr12:123431971..123434703,2	MCF-7	breast:
3	chr12:123433587..123436454-chr12:123458977..123461529,2	K562	blood:

Variant related genes	Relation type
ENSG00000256028	Chromatin interaction
ENSG00000130787	Chromatin interaction
ENSG00000150967	Chromatin interaction
ENSG00000111325	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11057167	0.80[CEU][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11057171	1.00[AMR][1000 genomes]
rs11057173	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11057182	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11057186	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11060406	1.00[AMR][1000 genomes]
rs11060703	0.95[EUR][1000 genomes]
rs11060765	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11061016	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11061056	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11061244	0.80[CEU][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11061275	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11061613	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11061615	0.80[CEU][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12368208	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12371718	0.80[CEU][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12372667	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12426176	1.00[CHB][hapmap]
rs12580585	1.00[CHB][hapmap];1.00[MEX][hapmap]
rs2343106	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2844287	0.80[CEU][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36004829	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs484200	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs523682	0.80[CEU][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56347904	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61751326	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7306047	1.00[MEX][hapmap]
rs73230014	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230019	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7488814	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs947800	0.80[CEU][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];0.83[MKK][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs947801	0.80[CEU][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];0.89[MKK][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv899576	chr12:123335527-123528405	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv832532	chr12:123395927-123573137	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv832533	chr12:123395927-123589290	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
9	nsv560491	chr12:123425575-123444422	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
10	nsv455732	chr12:123427573-123574838	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
11	nsv560492	chr12:123427573-123574838	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 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	chr12:123403000-123444200	Weak transcription	Aorta	Aorta
2	chr12:123412800-123449200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:123413400-123449600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr12:123413600-123450000	Weak transcription	Primary T cells from cord blood	blood
5	chr12:123417400-123441800	Weak transcription	Ovary	ovary
6	chr12:123417600-123446200	Weak transcription	Fetal Lung	lung
7	chr12:123429600-123444000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:123429800-123435600	Strong transcription	Fetal Brain Female	brain
9	chr12:123429800-123436400	Strong transcription	Fetal Stomach	stomach
10	chr12:123429800-123444000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:123430000-123441800	Weak transcription	Fetal Brain Male	brain
12	chr12:123431600-123435000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr12:123431800-123439600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:123432000-123436000	Weak transcription	HepG2	liver
15	chr12:123432000-123439800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:123432000-123444000	Weak transcription	Thymus	Thymus
17	chr12:123432200-123435400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr12:123432200-123435600	Weak transcription	Colon Smooth Muscle	Colon
19	chr12:123432200-123435800	Weak transcription	Fetal Intestine Large	intestine
20	chr12:123432200-123436400	Weak transcription	HSMMtube	muscle
21	chr12:123432200-123439600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr12:123432200-123441800	Weak transcription	Right Ventricle	heart
23	chr12:123432200-123444200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:123432200-123446000	Weak transcription	Right Atrium	heart
25	chr12:123432200-123446000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr12:123432200-123446000	Weak transcription	K562	blood
27	chr12:123432200-123450000	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr12:123432200-123450200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr12:123432400-123434600	Weak transcription	Brain Substantia Nigra	brain
30	chr12:123432400-123434600	Weak transcription	Gastric	stomach
31	chr12:123432400-123434800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr12:123432400-123435200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:123432400-123435200	Weak transcription	Colonic Mucosa	Colon
34	chr12:123432400-123435600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr12:123432400-123435800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr12:123432400-123435800	Weak transcription	A549	lung
37	chr12:123432400-123436000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:123432400-123436000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:123432400-123436000	Weak transcription	NH-A	brain
40	chr12:123432400-123436000	Weak transcription	NHLF	lung
41	chr12:123432400-123436200	Weak transcription	NHDF-Ad	bronchial
42	chr12:123432400-123436400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr12:123432400-123436600	Weak transcription	Fetal Thymus	thymus
44	chr12:123432400-123436800	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr12:123432400-123439600	Weak transcription	Fetal Muscle Leg	muscle
46	chr12:123432400-123444200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:123432400-123444200	Weak transcription	Pancreas	Pancrea
48	chr12:123432400-123448200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr12:123432400-123449600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr12:123432400-123450000	Weak transcription	Primary T helper cells fromperipheralblood	blood

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