Variant report

Variant	rs12636473
Chromosome Location	chr3:160813801-160813802
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:160803867..160805630-chr3:160813768..160816100,2	K562	blood:
2	chr3:160806758..160810254-chr3:160813169..160817667,5	MCF-7	breast:
3	chr3:160811687..160814134-chr3:161129649..161132239,2	MCF-7	breast:
4	chr3:160813229..160815259-chr3:161126741..161128442,3	MCF-7	breast:
5	chr3:160813203..160815910-chr3:161138848..161140414,2	MCF-7	breast:
6	chr3:160813033..160824577-chr3:161083489..161092050,35	MCF-7	breast:
7	chr3:160813099..160815987-chr3:160816169..160819121,2	K562	blood:
8	chr3:160813469..160814648-chr3:161277747..161278407,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000169255	Chromatin interaction
ENSG00000196542	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12631808	1.00[EUR][1000 genomes]
rs12632514	1.00[EUR][1000 genomes]
rs12632632	1.00[EUR][1000 genomes]
rs12634108	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12634781	1.00[EUR][1000 genomes]
rs12635895	1.00[EUR][1000 genomes]
rs12639236	1.00[EUR][1000 genomes]
rs13313977	1.00[EUR][1000 genomes]
rs16831667	1.00[EUR][1000 genomes]
rs16831679	1.00[EUR][1000 genomes]
rs34868645	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55914832	1.00[EUR][1000 genomes]
rs56378191	1.00[EUR][1000 genomes]
rs57212203	1.00[EUR][1000 genomes]
rs57649180	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58013864	1.00[EUR][1000 genomes]
rs58404146	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61560039	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61631170	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61693724	1.00[EUR][1000 genomes]
rs6773475	1.00[EUR][1000 genomes]
rs6774622	1.00[EUR][1000 genomes]
rs6794409	1.00[EUR][1000 genomes]
rs6807237	1.00[EUR][1000 genomes]
rs72494862	1.00[EUR][1000 genomes]
rs73875444	1.00[EUR][1000 genomes]
rs73875481	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931072	chr3:160669567-161159779	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv877704	chr3:160806859-160836006	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160780800-160821400	Weak transcription	Fetal Brain Male	brain
2	chr3:160781800-160822000	Weak transcription	Thymus	Thymus
3	chr3:160787000-160822000	Weak transcription	Primary T cells from cord blood	blood
4	chr3:160787200-160818800	Weak transcription	Brain Germinal Matrix	brain
5	chr3:160789600-160818800	Weak transcription	Esophagus	oesophagus
6	chr3:160796000-160817400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:160796200-160821800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:160797000-160822000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr3:160797600-160817200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr3:160798600-160821800	Weak transcription	Brain Angular Gyrus	brain
11	chr3:160799800-160821800	Weak transcription	NHLF	lung
12	chr3:160799800-160822000	Weak transcription	HMEC	breast
13	chr3:160800200-160818200	Weak transcription	Fetal Intestine Small	intestine
14	chr3:160800200-160820000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr3:160800400-160817200	Weak transcription	Brain Hippocampus Middle	brain
16	chr3:160800400-160818800	Weak transcription	Gastric	stomach
17	chr3:160800400-160822200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr3:160800400-160822400	Weak transcription	Spleen	Spleen
19	chr3:160801000-160821800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr3:160801200-160822000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr3:160801600-160816600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr3:160801600-160818800	Weak transcription	Placenta	Placenta
23	chr3:160801600-160821800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr3:160802600-160821400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr3:160802600-160822000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr3:160802600-160822400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr3:160802800-160822000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:160803400-160819200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr3:160803400-160822000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr3:160803800-160822000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr3:160804400-160816600	Weak transcription	Fetal Brain Female	brain
32	chr3:160804400-160818200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr3:160804400-160822000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr3:160804400-160822000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr3:160804600-160816200	Weak transcription	Ovary	ovary
36	chr3:160804600-160816400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr3:160804600-160816600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr3:160804600-160817200	Weak transcription	Brain Anterior Caudate	brain
39	chr3:160804600-160820400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr3:160804600-160821800	Weak transcription	Brain Substantia Nigra	brain
41	chr3:160804600-160821800	Weak transcription	HUVEC	blood vessel
42	chr3:160804600-160822200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr3:160804800-160815400	Weak transcription	Left Ventricle	heart
44	chr3:160805800-160815400	Weak transcription	Right Ventricle	heart
45	chr3:160805800-160818800	Weak transcription	Lung	lung
46	chr3:160806600-160815200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr3:160806600-160816800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr3:160807000-160815200	Weak transcription	Osteobl	bone
49	chr3:160807000-160816400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr3:160807000-160818800	Weak transcription	Fetal Kidney	kidney

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