Variant report

Variant	rs12539604
Chromosome Location	chr7:66465016-66465017
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:66463795..66466236-chr7:66470895..66472750,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs12531516	0.81[AMR][1000 genomes]
rs12532160	0.81[AMR][1000 genomes]
rs12534156	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12534278	0.81[AMR][1000 genomes]
rs12534327	0.83[ASN][1000 genomes]
rs12535023	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12537353	0.81[AMR][1000 genomes]
rs12537414	0.81[AMR][1000 genomes]
rs12538152	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12538724	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12540695	0.81[AMR][1000 genomes]
rs28867847	0.97[ASN][1000 genomes]
rs35448884	0.81[AMR][1000 genomes]
rs4717335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4717342	0.84[EUR][1000 genomes]
rs4718438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4718450	0.81[AMR][1000 genomes]
rs62466582	0.81[AMR][1000 genomes]
rs62466584	0.81[AMR][1000 genomes]
rs62466586	0.81[AMR][1000 genomes]
rs62466588	0.81[AMR][1000 genomes]
rs62466589	0.81[AMR][1000 genomes]
rs62466591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466612	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62466613	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62466616	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62466618	0.97[ASN][1000 genomes]
rs62466620	0.94[ASN][1000 genomes]
rs62466625	0.97[ASN][1000 genomes]
rs62466629	0.83[ASN][1000 genomes]
rs62466630	0.83[ASN][1000 genomes]
rs62466632	0.81[AMR][1000 genomes]
rs62466633	0.81[AMR][1000 genomes]
rs62466634	0.81[AMR][1000 genomes]
rs62466635	0.81[AMR][1000 genomes]
rs62466637	0.81[AMR][1000 genomes]
rs62466638	0.81[AMR][1000 genomes]
rs62466639	0.81[AMR][1000 genomes]
rs62466640	0.81[AMR][1000 genomes]
rs62466642	0.81[AMR][1000 genomes]
rs62466657	0.81[AMR][1000 genomes]
rs62466659	0.81[AMR][1000 genomes]
rs62468374	0.81[AMR][1000 genomes]
rs62468375	0.81[AMR][1000 genomes]
rs62468378	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs62468379	0.81[AMR][1000 genomes]
rs62468380	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs62468381	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs62468382	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758118	chr7:66401430-66859253	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2759535	chr7:66401430-66859253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv1032575	chr7:66432853-66576034	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66462200-66470400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:66462200-66482600	Weak transcription	Aorta	Aorta
3	chr7:66462400-66469200	Weak transcription	Fetal Lung	lung
4	chr7:66462400-66470600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:66462400-66470600	Weak transcription	Placenta	Placenta
6	chr7:66462400-66470600	Weak transcription	Ovary	ovary
7	chr7:66462400-66470800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr7:66462400-66470800	Weak transcription	Lung	lung
9	chr7:66462400-66471000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:66462400-66472200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr7:66462400-66472200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:66462400-66475400	Weak transcription	Colon Smooth Muscle	Colon
13	chr7:66462400-66475800	Weak transcription	Right Ventricle	heart
14	chr7:66462400-66476000	Weak transcription	Colonic Mucosa	Colon
15	chr7:66462400-66476400	Weak transcription	Gastric	stomach
16	chr7:66462400-66478400	Weak transcription	Pancreas	Pancrea
17	chr7:66462400-66479400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr7:66462400-66482200	Weak transcription	Small Intestine	intestine
19	chr7:66462400-66482600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr7:66462400-66490000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:66462400-66496000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr7:66462400-66500200	Weak transcription	Psoas Muscle	Psoas
23	chr7:66462400-66508000	Weak transcription	Stomach Mucosa	stomach
24	chr7:66462600-66466800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr7:66462600-66468800	Weak transcription	GM12878-XiMat	blood
26	chr7:66462600-66469000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr7:66462600-66469000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr7:66462600-66470400	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr7:66462600-66470400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr7:66462600-66470600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr7:66462600-66470600	Weak transcription	Brain Germinal Matrix	brain
32	chr7:66462600-66470600	Weak transcription	Fetal Thymus	thymus
33	chr7:66462600-66470600	Weak transcription	A549	lung
34	chr7:66462600-66470800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:66462600-66470800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr7:66462600-66471000	Weak transcription	HSMM	muscle
37	chr7:66462600-66471200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr7:66462600-66471800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:66462600-66472000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr7:66462600-66473000	Weak transcription	HSMMtube	muscle
41	chr7:66462600-66474000	Weak transcription	Osteobl	bone
42	chr7:66462600-66474200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:66462600-66474200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr7:66462600-66474400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr7:66462600-66474400	Weak transcription	Brain Anterior Caudate	brain
46	chr7:66462600-66475400	Weak transcription	Brain Hippocampus Middle	brain
47	chr7:66462600-66475800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr7:66462600-66475800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr7:66462600-66476000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr7:66462600-66476400	Weak transcription	Brain Angular Gyrus	brain

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