Variant report

Variant	rs71459332
Chromosome Location	chr12:56418678-56418679
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56107674..56111560-chr12:56417665..56420637,3	MCF-7	breast:
2	chr12:56109473..56111446-chr12:56417977..56420128,2	K562	blood:
3	chr12:56400024..56405744-chr12:56418580..56425265,13	MCF-7	breast:
4	chr12:56417053..56422414-chr12:56432550..56437155,7	K562	blood:
5	chr12:56418586..56420915-chr12:56435116..56437578,2	MCF-7	breast:
6	chr12:56135510..56137710-chr12:56417987..56419560,2	K562	blood:
7	chr12:56415753..56419249-chr12:56520139..56522769,3	K562	blood:

Variant related genes	Relation type
ENSG00000123411	Chromatin interaction
ENSG00000135414	Chromatin interaction
ENSG00000135441	Chromatin interaction
ENSG00000197728	Chromatin interaction
ENSG00000258317	Chromatin interaction
ENSG00000257449	Chromatin interaction
ENSG00000258311	Chromatin interaction
ENSG00000139641	Chromatin interaction
ENSG00000135424	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12817671	1.00[AFR][1000 genomes]
rs12831884	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3816804	1.00[AFR][1000 genomes]
rs71459333	1.00[AFR][1000 genomes]
rs71459335	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases
2	nsv832424	chr12:56275226-56466917	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
3	nsv1043988	chr12:56348185-56534900	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
4	nsv832427	chr12:56392545-56512774	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56402200-56434800	Weak transcription	Psoas Muscle	Psoas
2	chr12:56402400-56422400	Weak transcription	Osteobl	bone
3	chr12:56402400-56423000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr12:56406000-56422800	Weak transcription	HSMM	muscle
5	chr12:56409400-56435000	Weak transcription	Stomach Mucosa	stomach
6	chr12:56409800-56422600	Weak transcription	Liver	Liver
7	chr12:56415400-56422400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:56415600-56418800	Weak transcription	Lung	lung
9	chr12:56415600-56426200	Weak transcription	Aorta	Aorta
10	chr12:56415800-56420600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:56415800-56420600	Weak transcription	Esophagus	oesophagus
12	chr12:56415800-56422400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:56415800-56422400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:56416000-56419000	Weak transcription	Adipose Nuclei	Adipose
15	chr12:56416000-56419000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:56416000-56419000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:56416000-56420600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:56416000-56420600	Weak transcription	Brain Substantia Nigra	brain
19	chr12:56416000-56420600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr12:56416000-56420600	Weak transcription	Right Ventricle	heart
21	chr12:56416000-56421200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:56416000-56421200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr12:56416000-56422800	Weak transcription	NH-A	brain
24	chr12:56416000-56426000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr12:56416000-56434800	Weak transcription	Primary B cells from cord blood	blood
26	chr12:56416000-56434800	Weak transcription	Primary B cells from peripheral blood	blood
27	chr12:56416000-56435000	Weak transcription	Right Atrium	heart
28	chr12:56416200-56418800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr12:56416200-56418800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr12:56416200-56418800	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr12:56416200-56418800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:56416200-56418800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:56416200-56418800	Weak transcription	Brain Angular Gyrus	brain
34	chr12:56416200-56418800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr12:56416200-56419200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:56416200-56419800	Weak transcription	Fetal Kidney	kidney
37	chr12:56416200-56420600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:56416200-56420600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr12:56416200-56420600	Weak transcription	Thymus	Thymus
40	chr12:56416200-56420800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr12:56416200-56420800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:56416200-56420800	Weak transcription	NHLF	lung
43	chr12:56416200-56421000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr12:56416200-56421600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:56416200-56421600	Weak transcription	Spleen	Spleen
46	chr12:56416200-56422600	Weak transcription	NHDF-Ad	bronchial
47	chr12:56416200-56425800	Weak transcription	Small Intestine	intestine
48	chr12:56416200-56426000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr12:56416200-56426000	Weak transcription	Colonic Mucosa	Colon
50	chr12:56416200-56434800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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