Variant report

Variant	rs6044167
Chromosome Location	chr20:16596470-16596471
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	chr20:16589932..16591784-chr20:16595469..16597980,2	K562	blood:
2	chr20:16552663..16555302-chr20:16594757..16597060,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000089177	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10485558	0.83[TSI][hapmap];0.81[EUR][1000 genomes]
rs11697576	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11698735	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11699391	0.95[EUR][1000 genomes]
rs17675229	0.81[EUR][1000 genomes]
rs17675340	0.81[EUR][1000 genomes]
rs17681859	0.95[EUR][1000 genomes]
rs17744425	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17744455	1.00[EUR][1000 genomes]
rs6034525	0.81[EUR][1000 genomes]
rs6034526	0.81[EUR][1000 genomes]
rs6044093	0.81[EUR][1000 genomes]
rs6044099	0.83[TSI][hapmap];0.81[EUR][1000 genomes]
rs6044101	0.81[EUR][1000 genomes]
rs6044105	0.81[EUR][1000 genomes]
rs6044108	0.81[EUR][1000 genomes]
rs6044172	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6044179	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6111185	0.81[EUR][1000 genomes]
rs62196260	0.81[EUR][1000 genomes]
rs62196283	0.81[EUR][1000 genomes]
rs62196284	0.81[EUR][1000 genomes]
rs62196286	0.81[EUR][1000 genomes]
rs62196289	0.81[EUR][1000 genomes]
rs62196304	0.81[EUR][1000 genomes]
rs62196305	0.81[EUR][1000 genomes]
rs62196307	0.81[EUR][1000 genomes]
rs62196308	0.81[EUR][1000 genomes]
rs62196310	0.81[EUR][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	nsv1055217	chr20:16568062-16596470	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
2	nsv525956	chr20:16593159-16601519	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16590000-16602400	Weak transcription	Right Atrium	heart
2	chr20:16592200-16597000	Enhancers	Fetal Muscle Leg	muscle
3	chr20:16592600-16597400	Enhancers	Fetal Lung	lung
4	chr20:16592600-16597600	Enhancers	Fetal Stomach	stomach
5	chr20:16595400-16596600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr20:16595400-16596800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr20:16595600-16596600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr20:16595800-16596600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr20:16595800-16596600	Enhancers	Fetal Intestine Large	intestine
10	chr20:16595800-16596600	Enhancers	Rectal Smooth Muscle	rectum
11	chr20:16595800-16596600	Enhancers	HSMM	muscle
12	chr20:16595800-16596800	Enhancers	Hela-S3	cervix
13	chr20:16595800-16597000	Enhancers	Fetal Intestine Small	intestine
14	chr20:16595800-16597000	Enhancers	Small Intestine	intestine
15	chr20:16596000-16596600	Enhancers	Colon Smooth Muscle	Colon
16	chr20:16596000-16596600	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr20:16596000-16596800	Enhancers	Duodenum Mucosa	Duodenum
18	chr20:16596000-16596800	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr20:16596000-16596800	Enhancers	HSMMtube	muscle
20	chr20:16596000-16597000	Enhancers	Stomach Mucosa	stomach
21	chr20:16596000-16597400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr20:16596200-16596600	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr20:16596200-16596800	Enhancers	Fetal Kidney	kidney
24	chr20:16596200-16596800	Enhancers	Stomach Smooth Muscle	stomach
25	chr20:16596400-16596800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr20:16596400-16596800	Enhancers	Colonic Mucosa	Colon
27	chr20:16596400-16596800	Enhancers	Ovary	ovary
28	chr20:16596400-16596800	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr20:16596400-16597800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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