Variant report

Variant	rs73798845
Chromosome Location	chr4:16142443-16142444
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:16141136..16143895-chr4:16177471..16179096,2	K562	blood:
2	chr4:16142195..16144224-chr4:16262323..16264122,2	K562	blood:
3	chr4:16141707..16144135-chr4:16226754..16229059,3	K562	blood:

Variant related genes	Relation type
ENSG00000169762	Chromatin interaction
ENSG00000263327	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10002535	0.90[ASN][1000 genomes]
rs10013167	0.90[ASN][1000 genomes]
rs11933619	0.90[ASN][1000 genomes]
rs11934569	0.90[ASN][1000 genomes]
rs2271749	0.90[ASN][1000 genomes]
rs28417679	0.83[AMR][1000 genomes]
rs56193341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6813085	0.90[ASN][1000 genomes]
rs6814370	0.90[ASN][1000 genomes]
rs6821914	0.90[ASN][1000 genomes]
rs6834015	0.90[ASN][1000 genomes]
rs73798847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7678532	0.90[ASN][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	nsv998299	chr4:16031459-16226466	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv1004821	chr4:16055996-16830629	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537046	chr4:16055996-16830629	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16128200-16142600	Weak transcription	Right Atrium	heart
2	chr4:16136400-16144600	Enhancers	Fetal Muscle Leg	muscle
3	chr4:16137400-16144400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:16139200-16143200	Weak transcription	Placenta	Placenta
5	chr4:16140400-16144000	Enhancers	Stomach Mucosa	stomach
6	chr4:16140600-16143800	Enhancers	Duodenum Mucosa	Duodenum
7	chr4:16141000-16142600	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr4:16141000-16144000	Enhancers	Hela-S3	cervix
9	chr4:16141000-16144600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr4:16141000-16144600	Enhancers	Fetal Intestine Small	intestine
11	chr4:16141000-16144800	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr4:16141200-16143400	Enhancers	Small Intestine	intestine
13	chr4:16141200-16143600	Enhancers	NH-A	brain
14	chr4:16141200-16144800	Enhancers	HepG2	liver
15	chr4:16141400-16142800	Enhancers	Fetal Stomach	stomach
16	chr4:16141400-16143400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:16141400-16144600	Enhancers	Fetal Intestine Large	intestine
18	chr4:16141800-16143400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:16141800-16143400	Enhancers	HMEC	breast
20	chr4:16142000-16142800	Enhancers	Left Ventricle	heart
21	chr4:16142000-16143200	Enhancers	HUVEC	blood vessel
22	chr4:16142000-16143200	Enhancers	Osteobl	bone
23	chr4:16142000-16144600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:16142200-16142600	Weak transcription	Gastric	stomach
25	chr4:16142200-16143000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:16142200-16143000	Enhancers	Fetal Heart	heart
27	chr4:16142200-16143200	Enhancers	Muscle Satellite Cultured Cells	--
28	chr4:16142200-16143200	Enhancers	HSMM	muscle
29	chr4:16142200-16144000	Weak transcription	Pancreas	Pancrea
30	chr4:16142400-16142800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr4:16142400-16142800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:16142400-16142800	Weak transcription	Colonic Mucosa	Colon
33	chr4:16142400-16142800	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr4:16142400-16142800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr4:16142400-16142800	Enhancers	NHEK	skin
36	chr4:16142400-16143000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:16142400-16143200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:16142400-16143200	Enhancers	HSMMtube	muscle
39	chr4:16142400-16143600	Enhancers	Skeletal Muscle Female	skeletal muscle

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