Variant report

Variant	rs73843115
Chromosome Location	chr3:53340247-53340248
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:53331905..53333455-chr3:53338536..53340527,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs55739626	1.00[AMR][1000 genomes]
rs55797425	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56138740	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57085673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57188310	1.00[AMR][1000 genomes]
rs57320366	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57530569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58006923	1.00[AMR][1000 genomes]
rs58191586	1.00[AMR][1000 genomes]
rs58563464	1.00[AMR][1000 genomes]
rs60407612	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60891705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72957562	1.00[AMR][1000 genomes]
rs73840109	1.00[AMR][1000 genomes]
rs73840110	1.00[AMR][1000 genomes]
rs73840113	1.00[AMR][1000 genomes]
rs73840218	1.00[AMR][1000 genomes]
rs73840219	1.00[AMR][1000 genomes]
rs73840220	1.00[AMR][1000 genomes]
rs73840224	1.00[AMR][1000 genomes]
rs73840228	1.00[AMR][1000 genomes]
rs73840236	1.00[AMR][1000 genomes]
rs73840239	1.00[AMR][1000 genomes]
rs73840247	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73840260	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73840281	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73840298	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843108	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843111	1.00[AMR][1000 genomes]
rs73843112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843113	1.00[AMR][1000 genomes]
rs73843117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843118	1.00[AFR][1000 genomes]
rs73843120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843124	1.00[AMR][1000 genomes]
rs73843127	1.00[AMR][1000 genomes]
rs73843129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843130	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73843148	1.00[AMR][1000 genomes]
rs874586	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	nsv876801	chr3:53325905-53467506	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
2	nsv876802	chr3:53325905-53470863	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53309400-53351200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:53318000-53345000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:53318000-53345800	Weak transcription	Stomach Mucosa	stomach
4	chr3:53321800-53347600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:53322400-53343600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr3:53322400-53344800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr3:53322400-53353600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr3:53324000-53340400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:53326600-53342400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr3:53326600-53364400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr3:53327200-53358200	Weak transcription	K562	blood
12	chr3:53328000-53347200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:53330000-53343400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:53330600-53340600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:53331600-53349000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr3:53332600-53355600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:53333400-53342600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr3:53333600-53341400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr3:53333600-53342600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr3:53333600-53344800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr3:53334000-53344200	Strong transcription	Fetal Intestine Small	intestine
22	chr3:53334400-53347400	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr3:53334600-53347200	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr3:53334600-53347600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr3:53334600-53355200	Strong transcription	Fetal Stomach	stomach
26	chr3:53334600-53358400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr3:53335000-53340400	Strong transcription	NHDF-Ad	bronchial
28	chr3:53335000-53347800	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr3:53335400-53354200	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr3:53335600-53347400	Strong transcription	Primary B cells from peripheral blood	blood
31	chr3:53335600-53348600	Strong transcription	Fetal Thymus	thymus
32	chr3:53337200-53340800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr3:53337200-53347600	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr3:53337800-53342800	Weak transcription	Right Ventricle	heart
35	chr3:53337800-53343600	Weak transcription	Psoas Muscle	Psoas
36	chr3:53338000-53340600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr3:53338000-53341200	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr3:53338000-53341200	Weak transcription	Left Ventricle	heart
39	chr3:53338000-53341400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr3:53338000-53341400	Weak transcription	Osteobl	bone
41	chr3:53338000-53342000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr3:53338000-53342400	Weak transcription	Esophagus	oesophagus
43	chr3:53338000-53342400	Weak transcription	Ovary	ovary
44	chr3:53338000-53342600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr3:53338000-53342800	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr3:53338000-53343000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr3:53338000-53343000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr3:53338000-53343400	Weak transcription	Pancreas	Pancrea
49	chr3:53338000-53343600	Weak transcription	Brain Substantia Nigra	brain
50	chr3:53338000-53343600	Weak transcription	Gastric	stomach

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