Variant report

Variant	rs73308096
Chromosome Location	chr12:51331447-51331448
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51325095..51327824-chr12:51330132..51332828,3	K562	blood:
2	chr12:51331181..51333310-chr12:51354155..51356249,2	MCF-7	breast:
3	chr12:51325095..51328187-chr12:51330132..51332748,3	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11169614	1.00[AMR][1000 genomes]
rs11835513	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17124979	1.00[AMR][1000 genomes]
rs17125085	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17125212	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17125227	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17125245	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56809906	1.00[AMR][1000 genomes]
rs56840343	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56883422	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56979742	1.00[AMR][1000 genomes]
rs58343549	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58493263	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60089061	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60610335	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60720958	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60886362	0.92[AFR][1000 genomes]
rs61550892	1.00[AMR][1000 genomes]
rs7137990	1.00[AMR][1000 genomes]
rs7303962	1.00[AMR][1000 genomes]
rs7309789	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7312269	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73296205	1.00[AMR][1000 genomes]
rs73297927	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297940	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297966	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73298000	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73300041	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73308073	1.00[AMR][1000 genomes]
rs73308091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73308094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73310009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73310019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73310024	1.00[AMR][1000 genomes]
rs73311230	1.00[AMR][1000 genomes]
rs73311252	1.00[AMR][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	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51319400-51346200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:51322200-51332600	Weak transcription	Fetal Kidney	kidney
3	chr12:51322800-51331800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr12:51323000-51377200	Weak transcription	Aorta	Aorta
5	chr12:51328400-51332600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr12:51328800-51378000	Weak transcription	Brain Substantia Nigra	brain
7	chr12:51329200-51336200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr12:51329200-51341600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr12:51329600-51331600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:51329600-51333200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:51329600-51373600	Weak transcription	Left Ventricle	heart
12	chr12:51330200-51331600	Enhancers	K562	blood
13	chr12:51330400-51331600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:51330400-51332600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
15	chr12:51330600-51332800	Weak transcription	Liver	Liver
16	chr12:51330800-51331800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
17	chr12:51330800-51331800	Strong transcription	Brain Hippocampus Middle	brain
18	chr12:51330800-51332000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
19	chr12:51330800-51332200	ZNF genes & repeats	Fetal Thymus	thymus
20	chr12:51330800-51332400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:51330800-51332400	ZNF genes & repeats	Brain Germinal Matrix	brain
22	chr12:51330800-51332400	ZNF genes & repeats	Fetal Intestine Small	intestine
23	chr12:51330800-51332400	ZNF genes & repeats	Fetal Muscle Leg	muscle
24	chr12:51330800-51332600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
25	chr12:51330800-51332600	ZNF genes & repeats	Fetal Brain Female	brain
26	chr12:51331000-51331600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:51331000-51331600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:51331000-51331600	ZNF genes & repeats	Pancreas	Pancrea
29	chr12:51331000-51331600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
30	chr12:51331000-51331600	Enhancers	Hela-S3	cervix
31	chr12:51331000-51332000	ZNF genes & repeats	Gastric	stomach
32	chr12:51331000-51332400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:51331000-51332400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr12:51331000-51332400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:51331000-51332400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:51331000-51332400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:51331000-51332400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
38	chr12:51331000-51332400	ZNF genes & repeats	Fetal Stomach	stomach
39	chr12:51331000-51332400	ZNF genes & repeats	Lung	lung
40	chr12:51331000-51332600	ZNF genes & repeats	Thymus	Thymus
41	chr12:51331000-51332600	ZNF genes & repeats	Dnd41	blood
42	chr12:51331000-51332800	ZNF genes & repeats	Primary B cells from cord blood	blood
43	chr12:51331200-51331600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
44	chr12:51331200-51331800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:51331200-51331800	ZNF genes & repeats	Primary T cells from cord blood	blood
46	chr12:51331200-51331800	ZNF genes & repeats	Brain Anterior Caudate	brain
47	chr12:51331200-51331800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
48	chr12:51331200-51331800	ZNF genes & repeats	Fetal Lung	lung
49	chr12:51331200-51331800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
50	chr12:51331400-51331600	ZNF genes & repeats	Primary hematopoietic stem cells	blood

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