Variant report

Variant	rs7134787
Chromosome Location	chr12:12593479-12593480
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:12590405..12593794-chr12:12593958..12596387,3	MCF-7	breast:
2	chr12:12591338..12594027-chr12:12713055..12715643,2	K562	blood:
3	chr12:12586894..12590134-chr12:12591817..12594282,3	K562	blood:
4	chr12:12586017..12588316-chr12:12590751..12594080,4	MCF-7	breast:
5	chr12:12584022..12586208-chr12:12592875..12596434,3	MCF-7	breast:
6	chr12:12588493..12590525-chr12:12592316..12593920,2	MCF-7	breast:
7	chr12:12592228..12593763-chr12:12712417..12714613,2	MCF-7	breast:
8	chr12:12588163..12590134-chr12:12591817..12594282,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000111266	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11831188	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11831555	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16908006	1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[ASN][1000 genomes]
rs16908019	1.00[ASN][1000 genomes]
rs17312912	1.00[JPT][hapmap]
rs1861674	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2193270	0.95[YRI][hapmap];0.81[AFR][1000 genomes]
rs4763288	1.00[JPT][hapmap]
rs4763289	1.00[JPT][hapmap]
rs4763824	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4763827	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4763828	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4763831	0.90[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56261569	0.81[ASN][1000 genomes]
rs58218344	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58529509	1.00[ASN][1000 genomes]
rs60022096	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs60363317	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60971404	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6488521	1.00[ASN][1000 genomes]
rs6488523	0.92[YRI][hapmap];0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6488524	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6488527	1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7133988	0.88[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs714480	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7306292	1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[ASN][1000 genomes]
rs73287587	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957014	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7973069	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975061	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978842	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7980390	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs888198	1.00[JPT][hapmap];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12582600-12595000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:12582600-12599400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr12:12582800-12596400	Weak transcription	Spleen	Spleen
4	chr12:12583000-12594000	Weak transcription	HSMMtube	muscle
5	chr12:12584000-12598600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr12:12585600-12595200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:12585800-12595400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr12:12586000-12594200	Weak transcription	Hela-S3	cervix
9	chr12:12586000-12595000	Weak transcription	Adipose Nuclei	Adipose
10	chr12:12586200-12595000	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:12586200-12595400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:12586600-12594200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr12:12586800-12594000	Weak transcription	Right Ventricle	heart
14	chr12:12587000-12593800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr12:12587000-12594800	Weak transcription	Aorta	Aorta
16	chr12:12587000-12594800	Weak transcription	Esophagus	oesophagus
17	chr12:12587000-12594800	Weak transcription	Placenta	Placenta
18	chr12:12587200-12593800	Weak transcription	Fetal Intestine Small	intestine
19	chr12:12587200-12594000	Weak transcription	Brain Angular Gyrus	brain
20	chr12:12587200-12594000	Weak transcription	Lung	lung
21	chr12:12587200-12594000	Weak transcription	Psoas Muscle	Psoas
22	chr12:12587200-12594200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr12:12587200-12595200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:12587200-12596400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr12:12587200-12596400	Weak transcription	Gastric	stomach
26	chr12:12587400-12593800	Weak transcription	Pancreas	Pancrea
27	chr12:12587400-12594000	Weak transcription	Brain Anterior Caudate	brain
28	chr12:12587400-12594200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr12:12587400-12594800	Weak transcription	NHLF	lung
30	chr12:12587400-12595000	Weak transcription	NHDF-Ad	bronchial
31	chr12:12587400-12595400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:12587400-12595400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr12:12587400-12595800	Weak transcription	Fetal Stomach	stomach
34	chr12:12587400-12600200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr12:12587400-12600200	Weak transcription	Ovary	ovary
36	chr12:12587800-12593800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr12:12588000-12594200	Weak transcription	Fetal Intestine Large	intestine
38	chr12:12588000-12595800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr12:12588400-12594000	Weak transcription	Brain Substantia Nigra	brain
40	chr12:12588400-12595400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr12:12588600-12599400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr12:12588800-12594000	Weak transcription	Left Ventricle	heart
43	chr12:12588800-12594000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr12:12589200-12594800	Weak transcription	Brain Hippocampus Middle	brain
45	chr12:12589400-12595600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr12:12589600-12594200	Weak transcription	Primary hematopoietic stem cells	blood
47	chr12:12589600-12594200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr12:12589800-12594000	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr12:12589800-12594000	Weak transcription	HSMM	muscle
50	chr12:12589800-12607200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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