Variant report

Variant	rs7309526
Chromosome Location	chr12:57077615-57077616
allele	C/T
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	chr12:57071098..57073439-chr12:57077293..57080257,6	MCF-7	breast:
2	chr12:57057109..57062087-chr12:57076163..57079993,5	MCF-7	breast:
3	chr12:57075341..57085478-chr12:57112447..57121011,58	MCF-7	breast:
4	chr12:57076071..57078890-chr12:57104142..57106874,2	K562	blood:
5	chr12:57038667..57042033-chr12:57076746..57080417,4	K562	blood:
6	chr12:57037416..57042033-chr12:57076746..57084678,17	K562	blood:
7	chr12:57076284..57078386-chr12:57143925..57146625,2	MCF-7	breast:
8	chr12:57074578..57085543-chr12:57108746..57121559,55	K562	blood:
9	chr12:57035470..57039783-chr12:57074333..57078299,3	MCF-7	breast:
10	chr12:57076604..57085974-chr12:57112559..57120474,46	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000207031	Chromatin interaction
ENSG00000198056	Chromatin interaction
ENSG00000025423	Chromatin interaction
ENSG00000110955	Chromatin interaction
ENSG00000196531	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1979325	0.82[AMR][1000 genomes]
rs2290893	0.84[ASN][1000 genomes]
rs2926743	0.82[AMR][1000 genomes]
rs2958149	0.82[AMR][1000 genomes]
rs2958153	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4759028	0.82[ASN][1000 genomes]
rs4788	0.80[AMR][1000 genomes]
rs7297289	0.84[ASN][1000 genomes]
rs7303216	0.84[ASN][1000 genomes]
rs7978685	0.82[AMR][1000 genomes]
rs7980835	0.80[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	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57052400-57078200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:57064800-57078000	Weak transcription	HSMMtube	muscle
3	chr12:57064800-57078600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:57065000-57077800	Weak transcription	Stomach Mucosa	stomach
5	chr12:57065200-57078000	Weak transcription	Aorta	Aorta
6	chr12:57065200-57079800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:57065400-57077800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:57065800-57077800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:57066600-57077800	Weak transcription	Osteobl	bone
10	chr12:57066800-57077800	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr12:57067000-57077800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr12:57067000-57077800	Weak transcription	Fetal Heart	heart
13	chr12:57067200-57077800	Weak transcription	Fetal Kidney	kidney
14	chr12:57067200-57077800	Weak transcription	HUVEC	blood vessel
15	chr12:57067200-57077800	Weak transcription	NHLF	lung
16	chr12:57068200-57077800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:57071800-57077800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:57072400-57077800	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:57072400-57077800	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr12:57072600-57078000	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr12:57073000-57077800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr12:57073000-57078000	Weak transcription	Brain Substantia Nigra	brain
23	chr12:57073000-57080200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:57074400-57078000	Weak transcription	Brain Germinal Matrix	brain
25	chr12:57074600-57077800	Enhancers	Adipose Nuclei	Adipose
26	chr12:57074800-57077800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:57074800-57077800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr12:57074800-57077800	Weak transcription	Brain Anterior Caudate	brain
29	chr12:57074800-57077800	Weak transcription	Colon Smooth Muscle	Colon
30	chr12:57074800-57077800	Weak transcription	Right Atrium	heart
31	chr12:57074800-57079600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:57074800-57079600	Weak transcription	Esophagus	oesophagus
33	chr12:57075000-57077800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr12:57075000-57077800	Weak transcription	Fetal Lung	lung
35	chr12:57075000-57077800	Weak transcription	NH-A	brain
36	chr12:57075000-57077800	Weak transcription	NHDF-Ad	bronchial
37	chr12:57075000-57078000	Weak transcription	Fetal Brain Female	brain
38	chr12:57075000-57078200	Weak transcription	HSMM	muscle
39	chr12:57075800-57077800	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr12:57076000-57077800	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr12:57076000-57078000	Enhancers	Primary B cells from cord blood	blood
42	chr12:57076200-57077800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr12:57076200-57077800	Weak transcription	Brain Hippocampus Middle	brain
44	chr12:57076200-57079000	Weak transcription	Gastric	stomach
45	chr12:57076400-57077800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr12:57076400-57077800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr12:57076400-57077800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr12:57076400-57077800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:57076400-57077800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:57076400-57077800	Weak transcription	Brain Angular Gyrus	brain

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