Variant report

Variant	rs7302713
Chromosome Location	chr12:117351839-117351840
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117348859..117352842-chr12:117353908..117358678,6	K562	blood:
2	chr12:117348884..117350434-chr12:117351419..117353815,2	K562	blood:
3	chr12:117349947..117352255-chr12:117362016..117363854,2	K562	blood:
4	chr12:117172130..117177322-chr12:117351344..117357214,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111412	Chromatin interaction
ENSG00000135119	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1032528	0.86[EUR][1000 genomes]
rs1051879	0.89[AMR][1000 genomes]
rs11068246	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11068255	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12099584	0.89[AMR][1000 genomes]
rs12308592	1.00[AMR][1000 genomes]
rs12313248	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12316811	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12317604	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12321592	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16947122	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16947131	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16947209	0.89[AMR][1000 genomes]
rs16947233	0.89[AMR][1000 genomes]
rs4094199	0.89[AMR][1000 genomes]
rs41364651	0.93[EUR][1000 genomes]
rs4451816	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58882507	0.89[AMR][1000 genomes]
rs59373313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60272946	0.89[AMR][1000 genomes]
rs61178788	0.89[AMR][1000 genomes]
rs61207925	0.89[AMR][1000 genomes]
rs61288722	0.89[AMR][1000 genomes]
rs7133142	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7133609	0.89[AMR][1000 genomes]
rs7136880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7305313	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73395566	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73395571	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73395601	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73397424	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73397478	0.89[AMR][1000 genomes]
rs73397488	0.89[AMR][1000 genomes]
rs73399480	0.89[AMR][1000 genomes]
rs73399483	0.89[AMR][1000 genomes]
rs73399502	0.89[AMR][1000 genomes]
rs7959860	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7963012	1.00[AMR][1000 genomes];0.93[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	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117349400-117354400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:117349600-117352000	Enhancers	Primary T cells fromperipheralblood	blood
3	chr12:117349600-117353800	Weak transcription	Gastric	stomach
4	chr12:117349600-117354200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:117349600-117354200	Weak transcription	Esophagus	oesophagus
6	chr12:117349600-117354400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:117349600-117363600	Weak transcription	Brain Anterior Caudate	brain
8	chr12:117349600-117364000	Weak transcription	Brain Angular Gyrus	brain
9	chr12:117349600-117365800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:117349800-117353200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:117349800-117353800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr12:117349800-117353800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr12:117349800-117353800	Weak transcription	NHDF-Ad	bronchial
14	chr12:117349800-117354400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:117349800-117354400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr12:117349800-117356000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr12:117349800-117362200	Weak transcription	Thymus	Thymus
18	chr12:117349800-117362400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:117349800-117363600	Weak transcription	Brain Substantia Nigra	brain
20	chr12:117349800-117363800	Weak transcription	Aorta	Aorta
21	chr12:117349800-117364000	Weak transcription	Adipose Nuclei	Adipose
22	chr12:117349800-117366000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr12:117349800-117366000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr12:117349800-117366000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:117349800-117371000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr12:117350000-117353000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:117350000-117353000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:117350000-117353200	Weak transcription	HMEC	breast
29	chr12:117350000-117353600	Weak transcription	Fetal Brain Female	brain
30	chr12:117350000-117353600	Weak transcription	HSMMtube	muscle
31	chr12:117350000-117353800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:117350000-117353800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr12:117350000-117353800	Weak transcription	A549	lung
34	chr12:117350000-117354200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr12:117350000-117354200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr12:117350000-117354200	Weak transcription	GM12878-XiMat	blood
37	chr12:117350000-117356200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr12:117350000-117356400	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr12:117350000-117356600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr12:117350000-117357000	Weak transcription	HUVEC	blood vessel
41	chr12:117350000-117358600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr12:117350000-117360000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr12:117350000-117363000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr12:117350000-117363800	Weak transcription	Brain Hippocampus Middle	brain
45	chr12:117350000-117365400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr12:117350000-117366000	Weak transcription	Fetal Lung	lung
47	chr12:117350200-117352800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:117350200-117352800	Weak transcription	Liver	Liver
49	chr12:117350200-117352800	Weak transcription	Placenta	Placenta
50	chr12:117350200-117353800	Weak transcription	Fetal Heart	heart

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