Variant report

Variant	rs1385526
Chromosome Location	chr12:57532749-57532750
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57531669..57534388-chr12:57545312..57547166,2	K562	blood:
2	chr12:57531089..57533651-chr12:57579070..57581822,2	K562	blood:
3	chr12:57531973..57533574-chr12:57605011..57607679,2	MCF-7	breast:
4	chr12:57531018..57534803-chr12:57534919..57538004,3	MCF-7	breast:
5	chr12:57520649..57522697-chr12:57530721..57533381,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123384	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10747776	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10876964	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10876965	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11172114	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1466535	1.00[CEU][hapmap];0.87[CHB][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4257011	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4367982	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs4759045	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4759277	1.00[CEU][hapmap];0.92[EUR][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	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv832428	chr12:57340609-57535694	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv559023	chr12:57530670-57616061	Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57523400-57557200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:57523800-57537000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr12:57524000-57542200	Weak transcription	HMEC	breast
4	chr12:57524000-57543000	Weak transcription	NHEK	skin
5	chr12:57525800-57534200	Genic enhancers	Primary monocytes fromperipheralblood	blood
6	chr12:57526200-57534800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:57526600-57533400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:57527000-57534600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:57527200-57533400	Weak transcription	Fetal Kidney	kidney
10	chr12:57529800-57533000	Enhancers	Adipose Nuclei	Adipose
11	chr12:57529800-57533800	Genic enhancers	Fetal Intestine Small	intestine
12	chr12:57530000-57537600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:57530200-57533000	Genic enhancers	Fetal Stomach	stomach
14	chr12:57530400-57533400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr12:57530400-57538200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:57530600-57533000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:57530600-57533200	Weak transcription	NH-A	brain
18	chr12:57530600-57535000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:57530600-57536600	Weak transcription	Thymus	Thymus
20	chr12:57530600-57538400	Weak transcription	Fetal Heart	heart
21	chr12:57531200-57533600	Enhancers	Stomach Mucosa	stomach
22	chr12:57531200-57534600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:57531200-57535800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:57531200-57536600	Genic enhancers	Muscle Satellite Cultured Cells	--
25	chr12:57531200-57542800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:57531400-57532800	Enhancers	Duodenum Mucosa	Duodenum
27	chr12:57531400-57533800	Enhancers	Right Atrium	heart
28	chr12:57531400-57534000	Enhancers	Spleen	Spleen
29	chr12:57531400-57537600	Genic enhancers	Fetal Muscle Leg	muscle
30	chr12:57531600-57532800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:57531600-57532800	Genic enhancers	Fetal Lung	lung
32	chr12:57531600-57533200	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr12:57531600-57533200	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
34	chr12:57531600-57533400	Genic enhancers	Fetal Muscle Trunk	muscle
35	chr12:57531600-57533400	Genic enhancers	Ovary	ovary
36	chr12:57531600-57533400	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr12:57531600-57533800	Genic enhancers	Stomach Smooth Muscle	stomach
38	chr12:57531600-57533800	Enhancers	K562	blood
39	chr12:57531600-57536600	Genic enhancers	HSMM	muscle
40	chr12:57531600-57537400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr12:57531600-57539000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:57531600-57539600	Strong transcription	Brain Germinal Matrix	brain
43	chr12:57531600-57544000	Strong transcription	H9 Cell Line	embryonic stem cell
44	chr12:57531800-57533400	Genic enhancers	Fetal Intestine Large	intestine
45	chr12:57531800-57533600	Enhancers	Small Intestine	intestine
46	chr12:57531800-57533800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr12:57531800-57535800	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr12:57531800-57536000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:57531800-57536400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:57531800-57542800	Weak transcription	Psoas Muscle	Psoas

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