Variant report

Variant	rs844903
Chromosome Location	chr20:23131543-23131544
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:23129251..23133596-chr20:23289860..23293957,6	K562	blood:
2	chr20:23130043..23132232-chr20:23322579..23325341,2	K562	blood:
3	chr20:23128680..23132693-chr20:23173285..23175662,3	K562	blood:
4	chr20:23129825..23131611-chr20:23330855..23333303,2	K562	blood:
5	chr20:23123944..23126735-chr20:23131086..23132834,2	MCF-7	breast:
6	chr20:23030281..23032450-chr20:23128861..23131677,3	K562	blood:
7	chr20:23027375..23033068-chr20:23127953..23133190,8	K562	blood:
8	chr20:23130457..23132351-chr20:23132417..23135261,2	MCF-7	breast:
9	chr20:23131411..23133053-chr20:23183792..23185506,2	K562	blood:
10	chr20:23131349..23133053-chr20:23183942..23185506,2	K562	blood:
11	chr20:23092456..23098917-chr20:23127069..23136117,14	K562	blood:
12	chr20:23125309..23128497-chr20:23131083..23133976,3	MCF-7	breast:
13	chr20:23094897..23098917-chr20:23130908..23134771,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000178726	Chromatin interaction
ENSG00000132661	Chromatin interaction
ENSG00000234832	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12710326	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1884658	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4813480	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4815176	0.92[CEU][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6048561	0.92[CEU][hapmap];0.87[JPT][hapmap];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6083009	0.86[CHB][hapmap]
rs6083010	0.86[CHB][hapmap]
rs6083017	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6113960	0.80[ASN][1000 genomes]
rs6137840	0.87[CHB][hapmap]
rs7269464	0.82[ASN][1000 genomes]
rs755697	0.92[CEU][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs844904	1.00[CEU][hapmap];0.91[JPT][hapmap];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs844905	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs946371	0.96[CHB][hapmap];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758516	chr20:23029404-23173240	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv2758789	chr20:23029404-23179604	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1066935	chr20:23123507-23146449	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv912817	chr20:23127661-23240969	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23120200-23137600	Enhancers	HUVEC	blood vessel
2	chr20:23121000-23144200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr20:23121600-23138200	Enhancers	Adipose Nuclei	Adipose
4	chr20:23121800-23137600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr20:23121800-23143000	Enhancers	NHDF-Ad	bronchial
6	chr20:23122600-23138000	Enhancers	NHLF	lung
7	chr20:23123600-23132400	Weak transcription	Ovary	ovary
8	chr20:23124200-23134600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr20:23124400-23132800	Weak transcription	Primary T cells from cord blood	blood
10	chr20:23124400-23133000	Weak transcription	Primary B cells from cord blood	blood
11	chr20:23124600-23132400	Weak transcription	Fetal Heart	heart
12	chr20:23124600-23132600	Weak transcription	Colon Smooth Muscle	Colon
13	chr20:23125000-23137600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr20:23125400-23134400	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr20:23126400-23132600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr20:23126400-23132600	Weak transcription	Brain Substantia Nigra	brain
17	chr20:23127200-23142200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr20:23127600-23132400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr20:23127600-23137600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr20:23127600-23137600	Enhancers	Left Ventricle	heart
21	chr20:23127800-23137000	Enhancers	Dnd41	blood
22	chr20:23128200-23133000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr20:23128200-23136200	Enhancers	Fetal Thymus	thymus
24	chr20:23128800-23137600	Enhancers	Psoas Muscle	Psoas
25	chr20:23129000-23133600	Enhancers	Right Ventricle	heart
26	chr20:23129000-23140800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr20:23129200-23131800	Enhancers	GM12878-XiMat	blood
28	chr20:23129200-23132800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr20:23129200-23135800	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr20:23129400-23132000	Weak transcription	Fetal Intestine Small	intestine
31	chr20:23129400-23132400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr20:23129400-23132400	Weak transcription	Fetal Intestine Large	intestine
33	chr20:23129400-23132400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr20:23129400-23132600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr20:23129400-23135200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr20:23129400-23135800	Weak transcription	A549	lung
37	chr20:23129600-23136200	Enhancers	Right Atrium	heart
38	chr20:23129800-23133800	Enhancers	Fetal Muscle Leg	muscle
39	chr20:23130000-23132400	Enhancers	Thymus	Thymus
40	chr20:23130000-23132600	Enhancers	Esophagus	oesophagus
41	chr20:23130000-23133600	Enhancers	Fetal Muscle Trunk	muscle
42	chr20:23130200-23132800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr20:23130200-23135800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr20:23130200-23140400	Weak transcription	Brain Hippocampus Middle	brain
45	chr20:23130400-23132400	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr20:23130600-23131600	Weak transcription	Stomach Mucosa	stomach
47	chr20:23130600-23132200	Weak transcription	HSMMtube	muscle
48	chr20:23130800-23131800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr20:23130800-23132200	Weak transcription	NH-A	brain
50	chr20:23130800-23132400	Weak transcription	HSMM	muscle

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