Variant report

Variant	rs62175683
Chromosome Location	chr2:169621755-169621756
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:169617074..169618676-chr2:169621721..169623368,2	K562	blood:
2	chr2:169616699..169618214-chr2:169621029..169623405,2	MCF-7	breast:
3	chr2:169620839..169623422-chr2:169628795..169630345,2	K562	blood:
4	chr2:169621495..169622271-chr2:169629860..169630520,3	K562	blood:
5	chr2:169621005..169623378-chr2:169624511..169627036,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16855794	0.84[EUR][1000 genomes]
rs17198917	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56372916	0.84[EUR][1000 genomes]
rs62175681	1.00[EUR][1000 genomes]
rs62175686	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62175687	0.84[EUR][1000 genomes]
rs62175689	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62175691	0.86[AMR][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	nsv915920	chr2:168851960-169696591	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169565200-169622800	Weak transcription	Liver	Liver
2	chr2:169579600-169630200	Weak transcription	Aorta	Aorta
3	chr2:169579600-169630600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:169586000-169627600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:169587800-169623200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:169595200-169622800	Weak transcription	NHEK	skin
7	chr2:169597200-169635800	Weak transcription	Ovary	ovary
8	chr2:169598600-169622800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:169601600-169625800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:169604800-169627600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:169606000-169623000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:169606000-169630600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr2:169606000-169630600	Weak transcription	Adipose Nuclei	Adipose
14	chr2:169606200-169630400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:169606600-169630600	Weak transcription	Gastric	stomach
16	chr2:169606600-169632800	Weak transcription	Pancreas	Pancrea
17	chr2:169608000-169622000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:169608000-169625800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:169608200-169633800	Weak transcription	Psoas Muscle	Psoas
20	chr2:169608400-169626800	Weak transcription	Fetal Lung	lung
21	chr2:169608400-169627600	Weak transcription	HSMM	muscle
22	chr2:169608400-169632200	Weak transcription	HSMMtube	muscle
23	chr2:169608400-169633600	Weak transcription	Dnd41	blood
24	chr2:169609000-169628000	Weak transcription	Primary B cells from peripheral blood	blood
25	chr2:169609200-169636400	Weak transcription	Lung	lung
26	chr2:169609400-169633000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr2:169609600-169634200	Weak transcription	Fetal Brain Male	brain
28	chr2:169610000-169625800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr2:169610000-169630600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr2:169610600-169622800	Weak transcription	Esophagus	oesophagus
31	chr2:169610800-169637400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr2:169611200-169636600	Weak transcription	HepG2	liver
33	chr2:169611600-169622800	Weak transcription	HMEC	breast
34	chr2:169611600-169625800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:169611600-169626800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:169612400-169623400	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr2:169612600-169622000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr2:169612600-169622600	Weak transcription	Fetal Muscle Trunk	muscle
39	chr2:169612600-169625800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr2:169612800-169622800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:169613400-169622800	Weak transcription	Thymus	Thymus
42	chr2:169614000-169622800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr2:169614000-169625800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:169614200-169622000	Weak transcription	Small Intestine	intestine
45	chr2:169614200-169623200	Weak transcription	Right Ventricle	heart
46	chr2:169614200-169628000	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr2:169614400-169622800	Weak transcription	Left Ventricle	heart
48	chr2:169614400-169622800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr2:169614400-169625600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr2:169614400-169631800	Weak transcription	Primary T cells fromperipheralblood	blood

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