Variant report

Variant	rs10748288
Chromosome Location	chr12:76105135-76105136
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:76032457..76035300-chr12:76104195..76106631,2	MCF-7	breast:
2	chr12:76101934..76108267-chr12:76336185..76339499,5	MCF-7	breast:
3	chr12:76104784..76107360-chr12:76370193..76373274,4	MCF-7	breast:
4	chr12:76092093..76110851-chr12:76415034..76433496,122	MCF-7	breast:
5	chr12:76098446..76100870-chr12:76101330..76106018,5	K562	blood:
6	chr12:76104879..76106449-chr12:76425488..76427132,2	MCF-7	breast:
7	chr12:76100797..76102905-chr12:76103958..76106069,2	K562	blood:
8	chr12:76102346..76108137-chr12:76108362..76111472,5	MCF-7	breast:
9	chr12:76103874..76111148-chr12:76112002..76118442,8	MCF-7	breast:
10	chr12:76104914..76106748-chr12:76210203..76212356,2	MCF-7	breast:
11	chr12:76104622..76106937-chr12:76111729..76114237,3	K562	blood:
12	chr12:76015495..76018360-chr12:76104509..76107219,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000139289	Chromatin interaction
ENSG00000257839	Chromatin interaction
ENSG00000257453	Chromatin interaction
ENSG00000264062	Chromatin interaction

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

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

rs_ID	r²[population]
rs11830455	0.84[ASN][1000 genomes]
rs12578249	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12581669	0.80[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12582533	0.84[ASN][1000 genomes]
rs17115468	1.00[JPT][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7304883	1.00[JPT][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7304886	1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7310772	0.85[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs73363668	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7486504	1.00[JPT][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7488562	1.00[JPT][hapmap];0.84[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	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv899314	chr12:76079814-76110751	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76098400-76105200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:76098800-76114200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:76098800-76114400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:76099600-76110800	Enhancers	HepG2	liver
5	chr12:76100000-76106800	Weak transcription	Right Ventricle	heart
6	chr12:76100000-76115200	Weak transcription	Pancreas	Pancrea
7	chr12:76100400-76105400	Weak transcription	Psoas Muscle	Psoas
8	chr12:76100400-76106800	Weak transcription	Right Atrium	heart
9	chr12:76100400-76108400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:76100600-76105400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:76100800-76107000	Weak transcription	Small Intestine	intestine
12	chr12:76101000-76105200	Weak transcription	Stomach Mucosa	stomach
13	chr12:76101000-76106000	Weak transcription	Dnd41	blood
14	chr12:76101000-76106000	Weak transcription	NH-A	brain
15	chr12:76101000-76113600	Weak transcription	Fetal Stomach	stomach
16	chr12:76101400-76114200	Weak transcription	Left Ventricle	heart
17	chr12:76101400-76114800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:76101600-76105400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:76101800-76106000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:76101800-76114200	Weak transcription	NHLF	lung
21	chr12:76102200-76106000	Weak transcription	Osteobl	bone
22	chr12:76102600-76106200	Enhancers	A549	lung
23	chr12:76103000-76108000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr12:76103400-76105200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:76103600-76105400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:76103600-76108800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:76103600-76110200	Enhancers	NHEK	skin
28	chr12:76103600-76115600	Weak transcription	Aorta	Aorta
29	chr12:76103800-76105400	Weak transcription	Fetal Heart	heart
30	chr12:76104000-76110600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:76104000-76114400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr12:76104200-76105400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr12:76104200-76108800	Enhancers	HMEC	breast
34	chr12:76104400-76105600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:76104600-76105400	Enhancers	H1 Cell Line	embryonic stem cell
36	chr12:76104600-76105600	Enhancers	H9 Cell Line	embryonic stem cell
37	chr12:76104600-76105800	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr12:76104600-76105800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:76104600-76106000	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr12:76104600-76107600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr12:76104600-76107800	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr12:76104600-76108000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr12:76104600-76109200	Enhancers	Hela-S3	cervix
44	chr12:76104600-76114200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:76104800-76105400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr12:76104800-76105600	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr12:76104800-76105600	Weak transcription	HUVEC	blood vessel
48	chr12:76104800-76106200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:76104800-76106200	Weak transcription	Fetal Lung	lung
50	chr12:76105000-76105200	Enhancers	Skeletal Muscle Male	skeletal muscle

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