Variant report

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	chr4:16033674..16036542-chr4:16143122..16145633,2	MCF-7	breast:
4	chr4:16141707..16144135-chr4:16226754..16229059,3	K562	blood:

Variant related genes	Relation type
ENSG00000169762	Chromatin interaction
ENSG00000263327	Chromatin interaction

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]
rs73798845	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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16136400-16144600	Enhancers	Fetal Muscle Leg	muscle
2	chr4:16137400-16144400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:16140400-16144000	Enhancers	Stomach Mucosa	stomach
4	chr4:16140600-16143800	Enhancers	Duodenum Mucosa	Duodenum
5	chr4:16141000-16144000	Enhancers	Hela-S3	cervix
6	chr4:16141000-16144600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr4:16141000-16144600	Enhancers	Fetal Intestine Small	intestine
8	chr4:16141000-16144800	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr4:16141200-16143600	Enhancers	NH-A	brain
10	chr4:16141200-16144800	Enhancers	HepG2	liver
11	chr4:16141400-16144600	Enhancers	Fetal Intestine Large	intestine
12	chr4:16142000-16144600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:16142200-16144000	Weak transcription	Pancreas	Pancrea
14	chr4:16142400-16143600	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr4:16142800-16143600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:16142800-16143600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:16142800-16144000	Enhancers	Colonic Mucosa	Colon
18	chr4:16142800-16144200	Weak transcription	Gastric	stomach
19	chr4:16142800-16144200	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr4:16142800-16145400	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr4:16143200-16143600	Enhancers	Placenta	Placenta
22	chr4:16143400-16143600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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