Variant report

Variant	rs12317548
Chromosome Location	chr12:63040598-63040599
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:63034781..63036515-chr12:63038569..63040635,2	K562	blood:
2	chr12:63039398..63042181-chr12:63096184..63099134,2	MCF-7	breast:
3	chr12:62994712..62998388-chr12:63040223..63045301,6	K562	blood:
4	chr12:62996006..62999301-chr12:63039821..63044054,4	MCF-7	breast:
5	chr12:63034981..63038220-chr12:63040076..63042937,3	MCF-7	breast:
6	chr12:63034717..63037649-chr12:63039194..63042442,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000199179	Chromatin interaction
ENSG00000221949	Chromatin interaction
ENSG00000257354	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12297799	1.00[CHB][hapmap];0.85[YRI][hapmap]
rs12317552	0.81[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[YRI][hapmap];1.00[ASN][1000 genomes]
rs12319145	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17098139	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs2137201	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60636263	1.00[EUR][1000 genomes]
rs61148406	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7135127	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs74095839	1.00[EUR][1000 genomes]
rs74095843	1.00[EUR][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	nsv741	chr12:63038255-63064846	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63026600-63049800	Weak transcription	Right Atrium	heart
2	chr12:63030000-63040800	Weak transcription	Brain Angular Gyrus	brain
3	chr12:63030400-63040600	Weak transcription	Brain Substantia Nigra	brain
4	chr12:63030400-63040800	Weak transcription	Brain Anterior Caudate	brain
5	chr12:63031600-63041000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:63031800-63047000	Weak transcription	Liver	Liver
7	chr12:63034400-63041000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:63034400-63042000	Weak transcription	Gastric	stomach
9	chr12:63034400-63043200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr12:63035000-63048000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:63035200-63041400	Weak transcription	Adipose Nuclei	Adipose
12	chr12:63035200-63041400	Weak transcription	Osteobl	bone
13	chr12:63035200-63043200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:63035200-63048400	Weak transcription	Fetal Muscle Leg	muscle
15	chr12:63035200-63069800	Weak transcription	Left Ventricle	heart
16	chr12:63035400-63040600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr12:63035600-63041200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:63035600-63042200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:63035600-63043200	Weak transcription	A549	lung
20	chr12:63035600-63044200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr12:63036200-63040800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr12:63036400-63044000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr12:63037200-63041600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:63037200-63050800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:63037200-63069600	Weak transcription	Fetal Intestine Large	intestine
26	chr12:63037400-63041400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr12:63037600-63041200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:63038200-63043200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:63038400-63041200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr12:63038600-63041400	Weak transcription	Fetal Stomach	stomach
31	chr12:63038600-63043400	Strong transcription	HepG2	liver
32	chr12:63039000-63042000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:63039200-63042600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr12:63039200-63070000	Weak transcription	Pancreas	Pancrea
35	chr12:63039400-63040800	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr12:63039400-63041200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:63039600-63040800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr12:63039600-63041000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:63039600-63042000	Weak transcription	Ovary	ovary
40	chr12:63039800-63040800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr12:63040000-63042600	Genic enhancers	HUES6 Cell Line	embryonic stem cell
42	chr12:63040200-63040800	Strong transcription	H9 Cell Line	embryonic stem cell
43	chr12:63040200-63040800	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr12:63040200-63041400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr12:63040200-63042600	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr12:63040200-63042600	Strong transcription	Fetal Intestine Small	intestine
47	chr12:63040400-63041400	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr12:63040400-63041600	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr12:63040400-63042000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:63040400-63042400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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