Variant report

Variant	rs2844287
Chromosome Location	chr12:123517814-123517815
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123507054..123512479-chr12:123514635..123518784,6	K562	blood:
2	chr12:123516372..123518127-chr12:123521257..123523072,2	K562	blood:
3	chr12:123516372..123518949-chr12:123560194..123562309,2	MCF-7	breast:
4	chr12:123494454..123496444-chr12:123516463..123519162,2	K562	blood:
5	chr12:123466130..123468338-chr12:123514919..123517859,3	K562	blood:
6	chr12:123516172..123518127-chr12:123521257..123523281,3	K562	blood:

Variant related genes	Relation type
ENSG00000265526	Chromatin interaction
ENSG00000150967	Chromatin interaction
ENSG00000090975	Chromatin interaction
ENSG00000182196	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11057167	1.00[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	0.88[CEU][hapmap];1.00[AMR][1000 genomes]
rs11060703	0.95[EUR][1000 genomes]
rs11060762	1.00[YRI][hapmap]
rs11060765	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11060942	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]
rs11061016	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11061056	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11061244	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11061275	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11061613	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11061615	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12368208	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12371718	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12372667	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2343106	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36004829	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4759359	1.00[YRI][hapmap]
rs484200	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs523682	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56347904	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs596940	0.80[CEU][hapmap]
rs61751326	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230014	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230019	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7488814	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs947800	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs947801	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv560494	chr12:123478378-123560731	Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123470400-123526600	Weak transcription	Fetal Lung	lung
2	chr12:123490200-123528200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr12:123491600-123526400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr12:123492000-123518600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr12:123494400-123518000	Weak transcription	Brain Substantia Nigra	brain
6	chr12:123496000-123526400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:123497400-123528600	Weak transcription	Ovary	ovary
8	chr12:123497800-123526000	Weak transcription	Colon Smooth Muscle	Colon
9	chr12:123502200-123519200	Weak transcription	HSMMtube	muscle
10	chr12:123504200-123519000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:123504200-123528000	Weak transcription	HMEC	breast
12	chr12:123504400-123540200	Weak transcription	Hela-S3	cervix
13	chr12:123507400-123526000	Genic enhancers	Fetal Thymus	thymus
14	chr12:123509800-123518000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:123509800-123518000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr12:123509800-123518600	Weak transcription	NHDF-Ad	bronchial
17	chr12:123509800-123519000	Weak transcription	A549	lung
18	chr12:123509800-123519200	Weak transcription	HSMM	muscle
19	chr12:123509800-123519200	Weak transcription	Osteobl	bone
20	chr12:123509800-123525600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr12:123509800-123530400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:123510000-123518000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr12:123510000-123518200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:123510000-123518600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr12:123510200-123519600	Strong transcription	Stomach Smooth Muscle	stomach
26	chr12:123510800-123519200	Strong transcription	Liver	Liver
27	chr12:123511000-123519400	Strong transcription	Fetal Stomach	stomach
28	chr12:123511400-123528200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr12:123512800-123518800	Strong transcription	Brain Germinal Matrix	brain
30	chr12:123513600-123518200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr12:123514200-123519400	Strong transcription	Fetal Brain Female	brain
32	chr12:123514600-123518000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:123514800-123518200	Weak transcription	Fetal Muscle Leg	muscle
34	chr12:123515200-123519000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr12:123515400-123518600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr12:123515400-123519200	Strong transcription	Fetal Intestine Small	intestine
37	chr12:123515600-123519200	Strong transcription	NHLF	lung
38	chr12:123515600-123521600	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr12:123515800-123518600	Weak transcription	Psoas Muscle	Psoas
40	chr12:123516000-123518800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:123516000-123518800	Strong transcription	Adipose Nuclei	Adipose
42	chr12:123516000-123518800	Strong transcription	Skeletal Muscle Male	skeletal muscle
43	chr12:123516000-123519000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:123516000-123519000	Strong transcription	Fetal Intestine Large	intestine
45	chr12:123516000-123519400	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr12:123516200-123519000	Strong transcription	Duodenum Mucosa	Duodenum
47	chr12:123516400-123518000	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr12:123516400-123518400	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr12:123516400-123519000	Strong transcription	Colonic Mucosa	Colon
50	chr12:123516400-123519200	Strong transcription	Right Ventricle	heart

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