Variant report

Variant	rs17026372
Chromosome Location	chr2:85744040-85744041
allele	C/T
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	chr2:85739058..85741304-chr2:85742843..85744856,2	K562	blood:
2	chr2:85739186..85748448-chr2:85762345..85768928,20	MCF-7	breast:
3	chr2:85741968..85744955-chr2:85763802..85767184,3	K562	blood:
4	chr2:85742777..85745374-chr2:85747062..85748764,2	MCF-7	breast:
5	chr2:85731450..85735055-chr2:85743773..85747296,3	K562	blood:
6	chr2:85743677..85746034-chr2:85749461..85751561,2	MCF-7	breast:
7	chr2:85739581..85746336-chr2:85762702..85767789,18	MCF-7	breast:
8	chr2:85647942..85651306-chr2:85740922..85744191,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000152292	Chromatin interaction
ENSG00000168906	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs58622138	0.91[AFR][1000 genomes]
rs6719162	0.91[AFR][1000 genomes]
rs6732600	0.91[AFR][1000 genomes]
rs6733078	0.91[AFR][1000 genomes]
rs6751560	1.00[AMR][1000 genomes]
rs72938590	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72938599	0.85[AFR][1000 genomes]
rs72940504	0.91[AFR][1000 genomes]
rs72940507	0.91[AFR][1000 genomes]
rs72940508	0.91[AFR][1000 genomes]
rs9751373	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005351	chr2:85242657-85774909	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
2	nsv535803	chr2:85242657-85774909	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
3	nsv834283	chr2:85609500-85755708	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85732400-85744200	Weak transcription	Gastric	stomach
2	chr2:85733600-85750600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr2:85734600-85750800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:85734600-85762000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:85738800-85744200	Weak transcription	Small Intestine	intestine
6	chr2:85742200-85744600	Enhancers	Duodenum Mucosa	Duodenum
7	chr2:85742200-85744600	Enhancers	Fetal Intestine Small	intestine
8	chr2:85742200-85744600	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr2:85742400-85744800	Weak transcription	Psoas Muscle	Psoas
10	chr2:85742600-85745200	Enhancers	Fetal Intestine Large	intestine
11	chr2:85742800-85744200	Weak transcription	Pancreas	Pancrea
12	chr2:85742800-85745200	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr2:85743200-85744600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:85743200-85745600	Enhancers	Stomach Mucosa	stomach
15	chr2:85743400-85744600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr2:85743400-85744600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:85743400-85744600	Enhancers	Liver	Liver
18	chr2:85743400-85744600	Flanking Active TSS	A549	lung
19	chr2:85743400-85744800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:85743400-85744800	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr2:85743400-85745000	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr2:85743600-85744600	Enhancers	Primary hematopoietic stem cells	blood
23	chr2:85743600-85744600	Enhancers	Colonic Mucosa	Colon
24	chr2:85743600-85744600	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr2:85743600-85744600	Enhancers	HUVEC	blood vessel
26	chr2:85743800-85744600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:85743800-85745000	Enhancers	Esophagus	oesophagus
28	chr2:85744000-85744200	Enhancers	Hela-S3	cervix
29	chr2:85744000-85744200	Enhancers	HepG2	liver
30	chr2:85744000-85744600	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr2:85744000-85745000	Weak transcription	K562	blood
32	chr2:85744000-85750600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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