Variant report

Variant	rs12752307
Chromosome Location	chr1:181009466-181009467
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:180990073..180993369-chr1:181008815..181014232,9	MCF-7	breast:
2	chr1:181006288..181011234-chr1:181054894..181059610,7	MCF-7	breast:
3	chr1:181009038..181012023-chr1:181029706..181032224,2	K562	blood:
4	chr1:181001303..181005236-chr1:181006998..181010264,4	MCF-7	breast:
5	chr1:180997971..181011022-chr1:181054648..181063248,33	K562	blood:
6	chr1:180999745..181016101-chr1:181055432..181063450,33	K562	blood:
7	chr1:181004593..181007804-chr1:181008315..181013552,8	K562	blood:
8	chr1:181007037..181009950-chr1:181135350..181137571,2	MCF-7	breast:
9	chr1:181008451..181010116-chr1:181051809..181054800,2	K562	blood:
10	chr1:181003285..181010147-chr1:181055895..181060690,15	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000153029	Chromatin interaction
ENSG00000162783	Chromatin interaction
ENSG00000135823	Chromatin interaction
ENSG00000272198	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10494536	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs10797662	0.84[EUR][1000 genomes]
rs10797663	0.83[EUR][1000 genomes]
rs10797665	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11584852	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1411479	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2225332	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3827708	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs6425659	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes]
rs6684455	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7546157	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.81[YRI][hapmap];0.84[EUR][1000 genomes]
rs7556005	1.00[CEU][hapmap];0.89[CHB][hapmap]
rs883859	0.95[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014404	chr1:180770155-181090200	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	esv3342865	chr1:180933678-181018012	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv3383831	chr1:180937224-181029755	Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1011081	chr1:180973159-181135953	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	95 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:181002600-181012200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:181003800-181009600	Weak transcription	Fetal Intestine Small	intestine
3	chr1:181003800-181012200	Weak transcription	Placenta	Placenta
4	chr1:181004000-181009600	Weak transcription	A549	lung
5	chr1:181004000-181010000	Weak transcription	NHDF-Ad	bronchial
6	chr1:181004000-181010200	Weak transcription	Osteobl	bone
7	chr1:181004000-181010400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:181004000-181010400	Weak transcription	Brain Hippocampus Middle	brain
9	chr1:181004000-181010600	Weak transcription	HMEC	breast
10	chr1:181004000-181012000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:181004000-181012000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:181004000-181013600	Weak transcription	Psoas Muscle	Psoas
13	chr1:181004000-181015600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:181004000-181025400	Weak transcription	Fetal Stomach	stomach
15	chr1:181004000-181025800	Weak transcription	Fetal Muscle Leg	muscle
16	chr1:181004000-181026200	Weak transcription	Brain Anterior Caudate	brain
17	chr1:181004200-181010200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr1:181004200-181010600	Weak transcription	NHEK	skin
19	chr1:181004200-181012200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:181005000-181011800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr1:181005200-181011800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr1:181005200-181012200	Weak transcription	Lung	lung
23	chr1:181005400-181012000	Weak transcription	Adipose Nuclei	Adipose
24	chr1:181005400-181012200	Weak transcription	Colonic Mucosa	Colon
25	chr1:181005600-181009600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:181005600-181010400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:181005600-181010400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr1:181005600-181010400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr1:181005600-181012200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr1:181005600-181013800	Weak transcription	Pancreas	Pancrea
31	chr1:181005600-181025800	Weak transcription	Right Ventricle	heart
32	chr1:181005600-181026000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr1:181005600-181026400	Weak transcription	Colon Smooth Muscle	Colon
34	chr1:181005600-181028200	Weak transcription	Gastric	stomach
35	chr1:181005600-181028600	Weak transcription	Ovary	ovary
36	chr1:181005800-181010600	Weak transcription	Spleen	Spleen
37	chr1:181005800-181010800	Weak transcription	Aorta	Aorta
38	chr1:181005800-181012000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:181005800-181012200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr1:181005800-181012200	Weak transcription	Esophagus	oesophagus
41	chr1:181005800-181012200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr1:181006000-181010600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:181006000-181012200	Weak transcription	Thymus	Thymus
44	chr1:181006200-181012200	Weak transcription	Small Intestine	intestine
45	chr1:181006400-181009600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr1:181006400-181012000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:181006400-181012000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:181006800-181010000	Genic enhancers	Primary T cells fromperipheralblood	blood
49	chr1:181006800-181012000	Weak transcription	Primary B cells from cord blood	blood
50	chr1:181006800-181012000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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