Variant report

Variant	rs6488514
Chromosome Location	chr12:12505669-12505670
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:12505582..12507087-chr12:12510779..12513309,2	MCF-7	breast:
2	chr12:12500672..12504766-chr12:12505204..12507584,5	K562	blood:
3	chr12:12505451..12508886-chr12:12510975..12514166,3	K562	blood:

Variant related genes	Relation type
ENSG00000111261	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11054817	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11054824	0.94[ASN][1000 genomes]
rs11054827	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11054832	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11054839	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12580693	0.81[ASN][1000 genomes]
rs2417091	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs35626354	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4763818	0.80[ASN][1000 genomes]
rs56895024	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7295350	0.82[AMR][1000 genomes];0.94[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	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
2	nsv898808	chr12:12463407-12549503	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv898809	chr12:12488067-12509314	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12503600-12509200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr12:12503600-12509400	Weak transcription	Fetal Lung	lung
3	chr12:12503800-12506400	Weak transcription	Fetal Heart	heart
4	chr12:12503800-12509200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:12503800-12509200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:12503800-12509200	Weak transcription	Fetal Brain Female	brain
7	chr12:12503800-12509400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:12503800-12509400	Weak transcription	Adipose Nuclei	Adipose
9	chr12:12503800-12509400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr12:12503800-12509400	Weak transcription	Osteobl	bone
11	chr12:12503800-12509600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr12:12503800-12509600	Weak transcription	Fetal Stomach	stomach
13	chr12:12503800-12509600	Weak transcription	HUVEC	blood vessel
14	chr12:12503800-12510000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr12:12504000-12509200	Weak transcription	GM12878-XiMat	blood
16	chr12:12504200-12506600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:12504200-12506800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr12:12504200-12507000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr12:12504200-12508400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:12504200-12509200	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr12:12504200-12509200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr12:12504200-12509200	Weak transcription	Brain Anterior Caudate	brain
23	chr12:12504200-12509200	Weak transcription	Hela-S3	cervix
24	chr12:12504200-12509200	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr12:12504200-12509400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr12:12504200-12509400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr12:12504200-12509400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr12:12504200-12509400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr12:12504200-12509400	Weak transcription	Brain Substantia Nigra	brain
30	chr12:12504200-12509400	Weak transcription	Pancreas	Pancrea
31	chr12:12504200-12509400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr12:12504200-12509600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr12:12504400-12506200	Weak transcription	K562	blood
34	chr12:12504400-12506400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:12504400-12507000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:12504400-12508600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr12:12504400-12509400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:12504400-12509400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr12:12504400-12509400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:12504400-12509400	Weak transcription	Liver	Liver
41	chr12:12504400-12509400	Weak transcription	Brain Angular Gyrus	brain
42	chr12:12504400-12509400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr12:12504400-12509400	Weak transcription	Brain Hippocampus Middle	brain
44	chr12:12504400-12509400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr12:12504400-12509400	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr12:12504400-12509400	Weak transcription	Fetal Kidney	kidney
47	chr12:12504400-12509400	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr12:12504400-12509400	Weak transcription	Thymus	Thymus
49	chr12:12504400-12510000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr12:12504600-12506400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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