Variant report

Variant	rs62335862
Chromosome Location	chr4:159091141-159091142
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr4:159090676-159091959	PBDE	blood:	n/a	n/a
2	REST	chr4:159091118-159092098	PFSK-1	brain:	n/a	n/a
3	REST	chr4:159091095-159092025	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr4:159090972-159092820	PBDE	blood:	n/a	n/a
5	POLR2A	chr4:159091028-159091532	PFSK-1	brain:	n/a	n/a
6	SPI1	chr4:159091044-159091439	HL-60	blood:	n/a	n/a
7	POLR2A	chr4:159091098-159091545	SK-N-MC	brain:	n/a	n/a
8	GATA2	chr4:159090885-159092068	HUVEC	blood vessel:	n/a	n/a
9	TAF1	chr4:159091098-159091537	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr4:159090562-159092956	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr4:159091061-159092865	HUVEC	blood vessel:	n/a	n/a
12	SIN3AK20	chr4:159091105-159091514	PFSK-1	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:159071408..159073828-chr4:159088522..159091495,2	MCF-7	breast:
2	chr4:159090875..159093077-chr4:159130370..159132510,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000248429	TF binding region
FAM198B	TF binding region
ENSG00000164124	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10517688	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17037003	0.81[AMR][1000 genomes]
rs17037241	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2245735	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4398571	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62335861	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62335889	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62337014	0.81[AMR][1000 genomes]
rs62337015	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7384	0.81[AMR][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	nsv993476	chr4:158550643-159202015	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers 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	16 gene(s)	inside rSNPs	diseases
2	nsv1030124	chr4:158758675-159251140	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1021067	chr4:158972282-159175475	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:159078600-159094000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:159083000-159091800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:159085000-159095200	Active TSS	Aorta	Aorta
4	chr4:159085200-159094000	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr4:159085400-159095000	Active TSS	Right Atrium	heart
6	chr4:159085600-159095000	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr4:159086200-159091400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:159086400-159093200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:159087600-159091800	Active TSS	Ovary	ovary
10	chr4:159088400-159091600	Active TSS	Rectal Smooth Muscle	rectum
11	chr4:159088400-159094400	Active TSS	Right Ventricle	heart
12	chr4:159088600-159092000	Active TSS	Brain Hippocampus Middle	brain
13	chr4:159088600-159094400	Active TSS	Fetal Heart	heart
14	chr4:159089000-159092000	Active TSS	Rectal Mucosa Donor 31	rectum
15	chr4:159089000-159092600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:159089000-159092600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:159089000-159094600	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr4:159089200-159091600	Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr4:159089200-159091600	Active TSS	NHDF-Ad	bronchial
20	chr4:159089200-159094200	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr4:159089600-159092200	Active TSS	Duodenum Mucosa	Duodenum
22	chr4:159089600-159094000	Active TSS	Colon Smooth Muscle	Colon
23	chr4:159089600-159094200	Active TSS	Colonic Mucosa	Colon
24	chr4:159089800-159091400	Active TSS	Brain Angular Gyrus	brain
25	chr4:159089800-159091600	Active TSS	Fetal Muscle Trunk	muscle
26	chr4:159089800-159091600	Active TSS	Placenta	Placenta
27	chr4:159089800-159091600	Active TSS	NHLF	lung
28	chr4:159089800-159093800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr4:159089800-159094600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr4:159090000-159091200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:159090000-159091400	Weak transcription	Small Intestine	intestine
32	chr4:159090000-159093800	Active TSS	Brain Anterior Caudate	brain
33	chr4:159090000-159094000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:159090200-159091200	Weak transcription	Gastric	stomach
35	chr4:159090200-159091600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr4:159090200-159091600	Active TSS	Fetal Muscle Leg	muscle
37	chr4:159090200-159091800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr4:159090200-159092000	Active TSS	HMEC	breast
39	chr4:159090200-159093400	Active TSS	HUVEC	blood vessel
40	chr4:159090200-159094200	Active TSS	Left Ventricle	heart
41	chr4:159090200-159094200	Active TSS	Psoas Muscle	Psoas
42	chr4:159090200-159094200	Active TSS	HSMM	muscle
43	chr4:159090200-159094400	Active TSS	Fetal Intestine Large	intestine
44	chr4:159090200-159095000	Active TSS	HSMMtube	muscle
45	chr4:159090400-159091600	Active TSS	Fetal Stomach	stomach
46	chr4:159090400-159094400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr4:159090600-159091200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr4:159090600-159091200	Enhancers	Brain Germinal Matrix	brain
49	chr4:159090600-159091600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr4:159090600-159091600	Active TSS	NH-A	brain

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