Variant report

Variant	rs17265731
Chromosome Location	chr2:169660985-169660986
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:169660149..169662783-chr2:169666363..169668736,2	MCF-7	breast:
2	chr2:169659171..169661687-chr2:169702085..169706270,3	K562	blood:
3	chr2:169640528..169642089-chr2:169658914..169661880,2	K562	blood:

Variant related genes	Relation type
ENSG00000227617	Chromatin interaction
ENSG00000163072	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs17265949	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2010230	1.00[ASN][1000 genomes]
rs2433679	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2433680	1.00[CEU][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2433681	1.00[CEU][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2461362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2461363	1.00[CEU][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2461390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs494120	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs498488	0.90[CEU][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs511013	1.00[CHB][hapmap]
rs551037	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433093	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs829955	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs829960	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs830025	0.89[ASN][1000 genomes]
rs830026	0.89[ASN][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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169656000-169666800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:169658600-169662200	Active TSS	Right Atrium	heart
3	chr2:169658800-169661000	Active TSS	Stomach Smooth Muscle	stomach
4	chr2:169658800-169661200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:169658800-169661200	Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr2:169659000-169661000	Active TSS	Colonic Mucosa	Colon
7	chr2:169659000-169661000	Active TSS	Psoas Muscle	Psoas
8	chr2:169659000-169661200	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr2:169659000-169661200	Active TSS	Lung	lung
10	chr2:169659000-169665800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:169659000-169668200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:169659200-169661200	Active TSS	Liver	Liver
13	chr2:169659200-169661200	Active TSS	Fetal Muscle Leg	muscle
14	chr2:169659200-169661400	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr2:169659200-169662200	Weak transcription	Spleen	Spleen
16	chr2:169659200-169666000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr2:169659200-169666600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr2:169659800-169661200	Active TSS	Duodenum Mucosa	Duodenum
19	chr2:169659800-169661200	Enhancers	Hela-S3	cervix
20	chr2:169659800-169662000	Weak transcription	Gastric	stomach
21	chr2:169659800-169662800	Active TSS	Adipose Nuclei	Adipose
22	chr2:169659800-169666600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr2:169659800-169672400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:169660000-169662000	Weak transcription	Right Ventricle	heart
25	chr2:169660000-169666600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:169660000-169676000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr2:169660000-169688200	Weak transcription	Placenta	Placenta
28	chr2:169660200-169661000	Enhancers	Pancreas	Pancrea
29	chr2:169660200-169661800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr2:169660400-169661000	Flanking Active TSS	Ovary	ovary
31	chr2:169660400-169661200	Flanking Active TSS	Fetal Intestine Small	intestine
32	chr2:169660400-169662200	Flanking Active TSS	K562	blood
33	chr2:169660400-169662400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:169660600-169661000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:169660600-169661000	Enhancers	Dnd41	blood
36	chr2:169660600-169661000	Enhancers	HUVEC	blood vessel
37	chr2:169660600-169661200	Flanking Active TSS	Fetal Heart	heart
38	chr2:169660600-169661200	Flanking Active TSS	Left Ventricle	heart
39	chr2:169660600-169661200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr2:169660600-169664800	Weak transcription	Small Intestine	intestine
41	chr2:169660800-169661000	Flanking Active TSS	Fetal Intestine Large	intestine
42	chr2:169660800-169661200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr2:169660800-169661200	Active TSS	Stomach Mucosa	stomach

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