Variant report

Variant	rs825497
Chromosome Location	chr12:124525443-124525444
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:124524796..124526483-chr12:124529562..124531770,2	K562	blood:
2	chr12:124521403..124524267-chr12:124525172..124528946,3	K562	blood:
3	chr12:124524983..124527223-chr12:124529562..124531157,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10846598	1.00[ASN][1000 genomes]
rs1631624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1686728	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1686757	0.82[AMR][1000 genomes]
rs1716375	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1716378	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1716385	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1716403	1.00[ASN][1000 genomes]
rs1716409	1.00[ASN][1000 genomes]
rs2451323	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2451325	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2460759	0.88[AMR][1000 genomes]
rs4765041	1.00[ASN][1000 genomes]
rs55673100	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs707333	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138055	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs825454	1.00[ASN][1000 genomes]
rs825457	1.00[ASN][1000 genomes]
rs825464	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs825466	1.00[ASN][1000 genomes]
rs825479	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861131	1.00[ASN][1000 genomes]
rs866640	0.82[EUR][1000 genomes];1.00[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	nsv899580	chr12:124499542-124565258	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv455734	chr12:124511908-124772515	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv560538	chr12:124511908-124772515	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124515000-124526000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:124515000-124531800	Weak transcription	Fetal Intestine Small	intestine
3	chr12:124515400-124528400	Weak transcription	Fetal Muscle Leg	muscle
4	chr12:124515400-124529600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:124521200-124528200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:124521600-124528400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:124521600-124528400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr12:124521800-124528400	Weak transcription	Fetal Brain Male	brain
9	chr12:124521800-124528600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr12:124521800-124529400	Weak transcription	Brain Anterior Caudate	brain
11	chr12:124521800-124529400	Weak transcription	Brain Hippocampus Middle	brain
12	chr12:124522000-124528400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr12:124523600-124529800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:124523800-124529400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:124524000-124526200	Weak transcription	Stomach Mucosa	stomach
16	chr12:124524000-124528800	Weak transcription	HMEC	breast
17	chr12:124524200-124526600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:124524200-124528200	Weak transcription	Fetal Thymus	thymus
19	chr12:124524200-124529400	Weak transcription	HSMMtube	muscle
20	chr12:124524200-124529600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr12:124524200-124529600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr12:124524200-124529600	Weak transcription	HSMM	muscle
23	chr12:124524600-124525800	Enhancers	HUVEC	blood vessel
24	chr12:124524600-124528600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:124525000-124530000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:124525200-124525600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:124525200-124528600	Weak transcription	Spleen	Spleen
28	chr12:124525400-124526400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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