Variant report

Variant	rs55735476
Chromosome Location	chr4:15706920-15706921
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:15706889-15706939	GM19239	blood:	n/a
2	chr4:15706889-15706939	HRCEpiC	kidney:	n/a
3	chr4:15706889-15706939	LNCaP	prostate:	n/a
4	chr4:15706889-15706939	Hepatocyte	liver:	n/a
5	chr4:15706889-15706939	T-47D	breast:	n/a
6	chr4:15706889-15706939	SK-N-MC	brain:	n/a
7	chr4:15706889-15706939	SAEC	small airway:	n/a
8	chr4:15706889-15706939	PANC-1	pancreas:	n/a
9	chr4:15706889-15706939	GM12878	blood:	n/a
10	chr4:15706889-15706939	AG09309	skin:	n/a
11	chr4:15706889-15706939	HNPCEpiC	eye:	n/a
12	chr4:15706889-15706939	GM06990	blood:	n/a
13	chr4:15706889-15706939	Hela-S3	cervix:	n/a
14	chr4:15706889-15706939	ECC-1	luminal epithelium:	n/a
15	chr4:15706889-15706939	NHBE	bronchial:	n/a
16	chr4:15706889-15706939	GM12891	blood:	n/a
17	chr4:15706889-15706939	U87	brain:	n/a
18	chr4:15706889-15706939	AG10803	skin:	n/a
19	chr4:15706889-15706939	HCM	heart:	n/a
20	chr4:15706889-15706939	HIPEpiC	eye:	n/a
21	chr4:15706889-15706939	RPTEC	kidney:	n/a
22	chr4:15706889-15706939	H1-hESC	embryonic stem cell:	embryo
23	chr4:15706889-15706939	ProgFib	skin:	n/a
24	chr4:15706889-15706939	AG04450	lung:	fetal
25	chr4:15706889-15706939	K562	blood:	n/a
26	chr4:15706889-15706939	HepG2	liver:	n/a
27	chr4:15706889-15706939	ovcar-3	ovarian:	n/a
28	chr4:15706889-15706939	IMR90	lung:	fetal
29	chr4:15706889-15706939	BE2_C	brain:	n/a
30	chr4:15706889-15706939	MCF-7	breast:	n/a
31	chr4:15706889-15706939	HEEpiC	esophagus:	n/a
32	chr4:15706889-15706939	CMK	blood:	n/a
33	chr4:15706889-15706939	HRPEpiC	eye:	n/a
34	chr4:15706889-15706939	NB4	blood:	n/a
35	chr4:15706889-15706939	HRE	kidney:	n/a
36	chr4:15706889-15706939	A549	lung:	n/a
37	chr4:15706889-15706939	NHDF-neo	bronchial:	n/a
38	chr4:15706889-15706939	SK-N-SH	brain:	n/a
39	chr4:15706889-15706939	NH-A	brain:	n/a
40	chr4:15706889-15706939	MCF10A-Er-Src	breast:	n/a
41	chr4:15706889-15706939	AG09319	gingival:	n/a
42	chr4:15706889-15706939	Jurkat	blood:	n/a
43	chr4:15706889-15706939	HEK293	kidney:	embryo
44	chr4:15706889-15706939	NT2-D1	testis:	n/a
45	chr4:15706889-15706939	HCF	heart:	n/a
46	chr4:15706889-15706939	Caco-2	colon:	n/a
47	chr4:15706889-15706939	PrEC	prostate:	n/a
48	chr4:15706889-15706939	SKMC	muscle:	n/a
49	chr4:15706889-15706939	HL-60	blood:	n/a
50	chr4:15706889-15706939	HPAEpiC	pulmonary alveolar:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:15689195..15690724-chr4:15706537..15708519,2	K562	blood:
2	chr4:15697208..15699857-chr4:15706552..15708335,2	MCF-7	breast:

No data

Variant related genes	Relation type
BST1	CpG island

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs16892232	0.90[EUR][1000 genomes]
rs17385861	0.82[EUR][1000 genomes]
rs17385951	0.82[EUR][1000 genomes]
rs17405797	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17476879	0.82[EUR][1000 genomes]
rs2302465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2302469	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3756245	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3822258	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4279202	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs55757331	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55784324	0.86[EUR][1000 genomes]
rs55803452	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55963737	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56065468	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56093715	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs56094420	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs56149419	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56166932	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73224650	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73224656	0.92[EUR][1000 genomes]
rs73224663	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73237171	0.82[EUR][1000 genomes]
rs73237172	0.83[EUR][1000 genomes]
rs73237182	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs73237198	0.83[EUR][1000 genomes]
rs73239165	0.83[EUR][1000 genomes]
rs73239167	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs73239174	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73239175	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73239182	0.86[EUR][1000 genomes]
rs73239189	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73239191	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73239193	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73241109	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73241111	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs73241112	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73241117	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73241120	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs73241180	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73241183	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73241185	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73241190	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73241191	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73241195	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73241197	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73241198	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73243105	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73243107	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73243112	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73243114	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73243118	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73243126	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73243128	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73243129	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73243131	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73243132	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73243135	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2757923	chr4:15444617-15749520	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2759227	chr4:15444617-15749520	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer 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	23 gene(s)	inside rSNPs	diseases
4	nsv428439	chr4:15556961-15749520	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats 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	22 gene(s)	inside rSNPs	diseases
5	nsv1012988	chr4:15597510-16091527	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv3345585	chr4:15704254-15707452	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv3414958	chr4:15704254-15708452	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15697600-15723600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:15704600-15708200	Weak transcription	Fetal Heart	heart
3	chr4:15705000-15708400	Weak transcription	HSMMtube	muscle
4	chr4:15705000-15708600	Weak transcription	Liver	Liver
5	chr4:15705000-15708600	Weak transcription	Fetal Brain Female	brain
6	chr4:15705000-15735200	Weak transcription	Lung	lung
7	chr4:15705200-15708200	Weak transcription	NHDF-Ad	bronchial
8	chr4:15705200-15708400	Weak transcription	Brain Hippocampus Middle	brain
9	chr4:15705200-15708400	Weak transcription	Ovary	ovary
10	chr4:15705200-15716200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr4:15705200-15716200	Weak transcription	Brain Anterior Caudate	brain
12	chr4:15705200-15720400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr4:15705200-15720600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr4:15705200-15731000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:15705400-15707200	Weak transcription	Fetal Kidney	kidney
16	chr4:15705400-15707600	Weak transcription	Adipose Nuclei	Adipose
17	chr4:15705400-15708800	Weak transcription	Brain Angular Gyrus	brain
18	chr4:15705400-15708800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr4:15705400-15709200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr4:15705400-15709600	Weak transcription	Fetal Intestine Small	intestine
21	chr4:15705400-15713800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr4:15705400-15715800	Weak transcription	Fetal Lung	lung
23	chr4:15705400-15715800	Weak transcription	Fetal Stomach	stomach
24	chr4:15705400-15715800	Weak transcription	NH-A	brain
25	chr4:15705400-15716200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:15705400-15716200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:15705400-15716200	Weak transcription	A549	lung
28	chr4:15705400-15718800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr4:15705400-15727400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr4:15705600-15707800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:15705600-15708400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr4:15705600-15714000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr4:15705800-15708000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:15705800-15715600	Weak transcription	Osteobl	bone
35	chr4:15705800-15716200	Weak transcription	Fetal Intestine Large	intestine
36	chr4:15705800-15719400	Weak transcription	Spleen	Spleen
37	chr4:15706000-15727800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr4:15706400-15707400	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
39	chr4:15706600-15709000	Enhancers	HepG2	liver
40	chr4:15706600-15709200	Genic enhancers	Primary monocytes fromperipheralblood	blood
41	chr4:15706800-15707200	Weak transcription	Brain Substantia Nigra	brain
42	chr4:15706800-15707400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr4:15706800-15707400	Enhancers	Primary B cells from cord blood	blood
44	chr4:15706800-15708800	Genic enhancers	Monocytes-CD14+_RO01746	blood
45	chr4:15706800-15709400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr4:15706800-15710000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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