Variant report

Variant	rs7133275
Chromosome Location	chr12:58336103-58336104
allele	A/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:58335319..58338203-chr12:58340129..58346317,10	K562	blood:
2	chr12:58239271..58242314-chr12:58333147..58337015,4	K562	blood:
3	chr12:58335072..58337363-chr12:62995466..62997804,2	K562	blood:
4	chr12:58194367..58196238-chr12:58334648..58336913,2	MCF-7	breast:
5	chr12:58238634..58240343-chr12:58334223..58336659,2	MCF-7	breast:
6	chr12:58336001..58339574-chr12:58342620..58345484,3	MCF-7	breast:
7	chr12:58336020..58338569-chr12:58461127..58463440,2	MCF-7	breast:
8	chr12:58334540..58337378-chr12:58339251..58345306,6	MCF-7	breast:
9	chr12:58164836..58167188-chr12:58333922..58337646,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000166896	Chromatin interaction
ENSG00000257354	Chromatin interaction
ENSG00000123427	Chromatin interaction
ENSG00000135407	Chromatin interaction
ENSG00000221949	Chromatin interaction
ENSG00000257921	Chromatin interaction
ENSG00000199179	Chromatin interaction
ENSG00000175215	Chromatin interaction
ENSG00000037897	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs12816216	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12822306	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12827346	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12829858	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12830273	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12831787	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17120038	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.92[JPT][hapmap];0.83[LWK][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17120048	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17120057	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17120058	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17120198	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.80[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17120201	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17120203	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2888286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2888287	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34080411	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34142683	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34170251	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs34221389	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34238095	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34300531	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs34437870	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34499234	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34567504	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35326083	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35364486	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35375157	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35712620	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35726562	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3829337	1.00[CHB][hapmap];0.92[JPT][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56964775	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61015952	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61935800	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61935801	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6581160	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6581162	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.92[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6581163	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[CHD][hapmap];0.92[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7132343	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7136078	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7137226	1.00[ASW][hapmap];1.00[CHD][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7295307	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7299512	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7303136	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7307628	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7968265	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970948	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7971139	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7978519	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[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	nsv559046	chr12:58162085-58478598	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	261 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	chr12:58334400-58336200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr12:58334400-58336200	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr12:58334400-58336200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr12:58334600-58336200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr12:58334600-58336200	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr12:58334600-58336200	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr12:58334600-58336200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:58334600-58336200	Active TSS	Fetal Brain Female	brain
9	chr12:58334600-58336200	Active TSS	Fetal Kidney	kidney
10	chr12:58334600-58336200	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr12:58334600-58336400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:58334800-58336200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:58334800-58336200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:58334800-58336200	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr12:58334800-58336200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:58334800-58336200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:58334800-58336200	Active TSS	Brain Angular Gyrus	brain
18	chr12:58334800-58336200	Active TSS	Brain Anterior Caudate	brain
19	chr12:58334800-58336200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:58334800-58336200	Active TSS	Brain Substantia Nigra	brain
21	chr12:58334800-58336200	Active TSS	Pancreas	Pancrea
22	chr12:58334800-58336200	Active TSS	Psoas Muscle	Psoas
23	chr12:58334800-58336200	Active TSS	Right Ventricle	heart
24	chr12:58334800-58336200	Active TSS	A549	lung
25	chr12:58334800-58336400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:58335000-58336200	Active TSS	Fetal Intestine Large	intestine
27	chr12:58335000-58336200	Active TSS	NHDF-Ad	bronchial
28	chr12:58335000-58337600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:58335400-58336200	Flanking Active TSS	Fetal Muscle Leg	muscle
30	chr12:58335400-58336200	Flanking Active TSS	Placenta	Placenta
31	chr12:58335600-58336200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
32	chr12:58335600-58336200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr12:58335600-58336200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:58335600-58336200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
35	chr12:58335600-58336200	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr12:58335600-58336200	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr12:58335600-58336200	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr12:58335600-58336200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr12:58335600-58336200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr12:58335600-58336200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr12:58335600-58336200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr12:58335600-58336200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr12:58335600-58336200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:58335600-58336200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr12:58335600-58336200	Flanking Active TSS	Liver	Liver
46	chr12:58335600-58336200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr12:58335600-58336200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr12:58335600-58336200	Active TSS	Right Atrium	heart
49	chr12:58335600-58336200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr12:58335600-58336200	Flanking Active TSS	HUVEC	blood vessel

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