Variant report

Variant	rs1716375
Chromosome Location	chr12:124529803-124529804
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:124528285..124530233-chr12:125227892..125229575,2	K562	blood:
2	chr12:124524983..124527223-chr12:124529562..124531157,2	K562	blood:
3	chr12:124524796..124526483-chr12:124529562..124531770,2	K562	blood:
4	chr12:124528224..124529883-chr12:124531757..124534004,2	MCF-7	breast:
5	chr12:124528313..124529938-chr12:124541033..124543445,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1631624	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1686728	0.81[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1686757	0.82[AMR][1000 genomes]
rs1716378	0.86[EUR][1000 genomes]
rs1716385	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2451323	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2451325	0.82[EUR][1000 genomes]
rs2460759	0.88[AMR][1000 genomes]
rs55673100	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs707333	0.82[EUR][1000 genomes]
rs7138055	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs825464	0.82[EUR][1000 genomes]
rs825479	0.82[EUR][1000 genomes]
rs825497	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs866640	0.82[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	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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124515000-124531800	Weak transcription	Fetal Intestine Small	intestine
2	chr12:124525000-124530000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:124526400-124530600	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr12:124526800-124531800	Weak transcription	Gastric	stomach
5	chr12:124528200-124531000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:124528200-124531000	Enhancers	Fetal Thymus	thymus
7	chr12:124528200-124531200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:124528400-124530200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr12:124528400-124530600	Enhancers	Fetal Muscle Trunk	muscle
10	chr12:124528400-124531000	Enhancers	Fetal Muscle Leg	muscle
11	chr12:124528600-124530200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:124528600-124530600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr12:124528600-124531000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:124528600-124531000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:124528600-124531000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:124528800-124530000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:124528800-124530000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr12:124529000-124530000	Weak transcription	Thymus	Thymus
19	chr12:124529000-124530600	Flanking Active TSS	Dnd41	blood
20	chr12:124529400-124530000	Enhancers	Fetal Brain Male	brain
21	chr12:124529400-124530200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr12:124529400-124530200	Enhancers	HSMMtube	muscle
23	chr12:124529400-124530400	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr12:124529400-124530600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr12:124529400-124530600	Enhancers	Placenta	Placenta
26	chr12:124529400-124531200	Enhancers	Brain Anterior Caudate	brain
27	chr12:124529400-124531600	Enhancers	Brain Hippocampus Middle	brain
28	chr12:124529600-124530000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:124529600-124530000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:124529600-124530000	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr12:124529600-124530000	Enhancers	HSMM	muscle
32	chr12:124529600-124530200	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr12:124529600-124530600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr12:124529600-124530600	Enhancers	Brain Substantia Nigra	brain
35	chr12:124529600-124531000	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr12:124529600-124531000	Enhancers	Fetal Lung	lung
37	chr12:124529600-124531200	Enhancers	Brain Angular Gyrus	brain
38	chr12:124529600-124531200	Enhancers	Brain Cingulate Gyrus	brain
39	chr12:124529600-124531200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr12:124529800-124530000	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr12:124529800-124530000	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr12:124529800-124530000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:124529800-124530000	Flanking Active TSS	NHEK	skin
44	chr12:124529800-124530400	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr12:124529800-124530600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr12:124529800-124531400	Enhancers	HMEC	breast

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