Variant report

Variant	rs7397991
Chromosome Location	chr12:57675203-57675204
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57672890..57675750-chr12:57846297..57849294,2	K562	blood:
2	chr12:57673763..57676749-chr12:57823251..57825200,4	MCF-7	breast:
3	chr12:57673193..57675613-chr12:57676618..57679327,2	K562	blood:
4	chr12:57671280..57675750-chr12:57846169..57850162,4	K562	blood:

Variant related genes	Relation type
ENSG00000179912	Chromatin interaction
ENSG00000139269	Chromatin interaction
ENSG00000258001	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11832661	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11834319	1.00[TSI][hapmap]
rs1463241	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs4760126	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs530387	0.88[YRI][hapmap];0.81[AMR][1000 genomes]
rs540730	0.84[LWK][hapmap]
rs61747067	1.00[EUR][1000 genomes]
rs6421189	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6581130	1.00[JPT][hapmap]
rs7132968	1.00[EUR][1000 genomes]
rs776037	0.81[MKK][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes]
rs7958942	1.00[CEU][hapmap]

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	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 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	chr12:57654800-57705400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:57656600-57682800	Weak transcription	Fetal Brain Male	brain
3	chr12:57662800-57706000	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr12:57663800-57675600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:57667600-57675600	Weak transcription	Gastric	stomach
6	chr12:57667600-57685600	Weak transcription	Fetal Heart	heart
7	chr12:57667600-57687200	Weak transcription	Psoas Muscle	Psoas
8	chr12:57669600-57678600	Strong transcription	Fetal Stomach	stomach
9	chr12:57670200-57681400	Strong transcription	Stomach Smooth Muscle	stomach
10	chr12:57670400-57707000	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr12:57670600-57693000	Strong transcription	Fetal Muscle Leg	muscle
12	chr12:57670600-57694400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:57670600-57698600	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr12:57670600-57700000	Strong transcription	Fetal Muscle Trunk	muscle
15	chr12:57671000-57676800	Strong transcription	Colon Smooth Muscle	Colon
16	chr12:57671000-57678200	Strong transcription	Brain Hippocampus Middle	brain
17	chr12:57671000-57678400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:57671000-57678600	Strong transcription	Brain Inferior Temporal Lobe	brain
19	chr12:57671000-57681600	Strong transcription	Brain Germinal Matrix	brain
20	chr12:57671000-57694400	Strong transcription	Adipose Nuclei	Adipose
21	chr12:57671000-57700000	Strong transcription	Liver	Liver
22	chr12:57671200-57690400	Strong transcription	Fetal Brain Female	brain
23	chr12:57671400-57678600	Strong transcription	Brain Anterior Caudate	brain
24	chr12:57671600-57677200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:57671600-57680400	Strong transcription	Left Ventricle	heart
26	chr12:57671600-57692200	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr12:57672200-57678000	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr12:57672200-57688400	Weak transcription	Small Intestine	intestine
29	chr12:57672800-57676200	Weak transcription	Brain Angular Gyrus	brain
30	chr12:57672800-57677200	Weak transcription	Spleen	Spleen
31	chr12:57672800-57688400	Weak transcription	Colonic Mucosa	Colon
32	chr12:57673400-57678200	Strong transcription	Fetal Lung	lung
33	chr12:57673400-57678400	Strong transcription	Brain Substantia Nigra	brain
34	chr12:57673600-57675400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
35	chr12:57673600-57675800	Genic enhancers	Dnd41	blood
36	chr12:57674000-57675400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr12:57674200-57682800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr12:57674400-57675600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:57674400-57684600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr12:57674400-57697000	Strong transcription	Placenta	Placenta
41	chr12:57674600-57675400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr12:57674600-57675400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr12:57674600-57675400	Weak transcription	Lung	lung
44	chr12:57674600-57675600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:57674600-57676200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr12:57674600-57676400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr12:57674600-57676600	Weak transcription	Pancreas	Pancrea
48	chr12:57674600-57676800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr12:57674600-57677600	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr12:57674600-57677600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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