Variant report

Variant	rs4940274
Chromosome Location	chr18:45654703-45654704
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:45649951..45652200-chr18:45653862..45656288,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10853562	1.00[CEU][hapmap];0.89[CHB][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11082653	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6417101	0.82[EUR][1000 genomes]
rs6507812	0.81[EUR][1000 genomes]
rs6507816	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6507817	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6507821	0.92[CEU][hapmap]
rs7231864	0.93[CEU][hapmap]
rs8085875	1.00[CEU][hapmap];0.89[CHB][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8093876	0.89[EUR][1000 genomes];0.88[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	nsv909616	chr18:45467806-45844500	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45642400-45657200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr18:45646200-45662000	Weak transcription	Right Atrium	heart
3	chr18:45650000-45655400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr18:45650000-45659400	Weak transcription	Lung	lung
5	chr18:45650400-45655200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr18:45650600-45660600	Weak transcription	Fetal Intestine Small	intestine
7	chr18:45651200-45655600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr18:45651200-45659000	Weak transcription	Colonic Mucosa	Colon
9	chr18:45651400-45659400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr18:45651600-45655600	Weak transcription	Fetal Kidney	kidney
11	chr18:45651800-45655800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr18:45652000-45655800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr18:45652000-45656200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr18:45652400-45655200	Weak transcription	Liver	Liver
15	chr18:45652400-45656200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr18:45652400-45658600	Weak transcription	Hela-S3	cervix
17	chr18:45653000-45655400	Weak transcription	Placenta	Placenta
18	chr18:45653000-45655800	Weak transcription	Stomach Mucosa	stomach
19	chr18:45653600-45659200	Weak transcription	Gastric	stomach
20	chr18:45653800-45654800	Enhancers	Esophagus	oesophagus
21	chr18:45653800-45655400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr18:45653800-45656200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr18:45653800-45657000	Enhancers	Fetal Muscle Leg	muscle
24	chr18:45654200-45658600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr18:45654600-45655400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr18:45654600-45655600	Weak transcription	Ovary	ovary
27	chr18:45654600-45656200	Weak transcription	Fetal Stomach	stomach

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