Variant report

Variant	rs4886861
Chromosome Location	chr15:74341788-74341789
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:74282684..74284862-chr15:74339446..74341891,2	K562	blood:
2	chr15:74264982..74265988-chr15:74340408..74341918,5	K562	blood:

Variant related genes	Relation type
ENSG00000067221	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1036673	0.90[ASN][1000 genomes]
rs11072473	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11072474	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11072475	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12595546	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28548701	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4886860	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4886867	0.90[EUR][1000 genomes]
rs6772	0.90[ASN][1000 genomes]
rs7179827	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7180506	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8024150	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8024467	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8029133	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758387	chr15:74215114-74464916	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv2760040	chr15:74215114-74464916	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv428308	chr15:74215114-74464916	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv833052	chr15:74250378-74377150	Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv469619	chr15:74291859-74466321	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv482362	chr15:74291859-74466321	Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv457203	chr15:74308940-74347723	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv569971	chr15:74308940-74347723	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
9	nsv510666	chr15:74310738-74394745	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv817697	chr15:74336633-74343330	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv974597	chr15:74339226-74413654	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74327800-74346000	Weak transcription	Psoas Muscle	Psoas
2	chr15:74328600-74346200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr15:74329000-74344000	Weak transcription	Small Intestine	intestine
4	chr15:74329200-74343200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr15:74330000-74343000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr15:74333000-74343000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr15:74333200-74342600	Weak transcription	HMEC	breast
8	chr15:74334000-74342600	Weak transcription	Pancreas	Pancrea
9	chr15:74334000-74346600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr15:74334200-74342400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr15:74336000-74342600	Weak transcription	Fetal Intestine Large	intestine
12	chr15:74336200-74346200	Weak transcription	Brain Angular Gyrus	brain
13	chr15:74336800-74346000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr15:74337000-74343200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr15:74337000-74343200	Weak transcription	Ovary	ovary
16	chr15:74337400-74343000	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr15:74338000-74343200	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr15:74338200-74342600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr15:74338200-74343000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr15:74338200-74346000	Weak transcription	Fetal Brain Female	brain
21	chr15:74338400-74342000	Weak transcription	NHLF	lung
22	chr15:74339000-74343200	Enhancers	Adipose Nuclei	Adipose
23	chr15:74339800-74343000	Enhancers	HSMMtube	muscle
24	chr15:74340200-74343200	Enhancers	NHDF-Ad	bronchial
25	chr15:74340200-74344800	Enhancers	Placenta	Placenta
26	chr15:74340600-74342600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr15:74340600-74343200	Weak transcription	NHEK	skin
28	chr15:74340800-74341800	Weak transcription	Colon Smooth Muscle	Colon
29	chr15:74340800-74342000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr15:74340800-74342200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr15:74340800-74342200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr15:74340800-74342200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr15:74340800-74342400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr15:74340800-74342400	Weak transcription	Aorta	Aorta
35	chr15:74340800-74342400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr15:74340800-74342400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr15:74340800-74342400	Weak transcription	Spleen	Spleen
38	chr15:74340800-74342600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr15:74340800-74342600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr15:74340800-74342600	Weak transcription	Gastric	stomach
41	chr15:74340800-74342600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr15:74340800-74343000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr15:74340800-74343000	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr15:74340800-74343000	Weak transcription	Brain Hippocampus Middle	brain
45	chr15:74340800-74343000	Weak transcription	Esophagus	oesophagus
46	chr15:74340800-74343000	Weak transcription	Fetal Lung	lung
47	chr15:74340800-74343000	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr15:74340800-74343000	Weak transcription	Hela-S3	cervix
49	chr15:74340800-74343200	Weak transcription	Liver	Liver
50	chr15:74340800-74343200	Weak transcription	Fetal Stomach	stomach

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