Variant report

Variant	rs10755182
Chromosome Location	chr4:48492135-48492136
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTBP2	chr4:48491559-48494045	H1-hESC	embryonic stem cell:	n/a	n/a
2	YY1	chr4:48492105-48492511	H1-hESC	embryonic stem cell:	n/a	chr4:48492284-48492293 chr4:48492285-48492296 chr4:48492220-48492234
3	POLR2A	chr4:48492024-48492571	K562	blood:	n/a	n/a
4	MAX	chr4:48492117-48493603	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr4:48492080-48493689	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr4:48492026-48492642	H1-hESC	embryonic stem cell:	n/a	n/a
7	YY1	chr4:48492114-48492463	H1-hESC	embryonic stem cell:	n/a	chr4:48492284-48492293 chr4:48492285-48492296 chr4:48492220-48492234
8	SIN3A	chr4:48491902-48492204	H1-hESC	embryonic stem cell:	n/a	n/a
9	E2F4	chr4:48492070-48492262	MCF10A-Er-Src	breast:	n/a	chr4:48492238-48492247
10	E2F6	chr4:48491978-48493224	H1-hESC	embryonic stem cell:	n/a	chr4:48492238-48492247 chr4:48492342-48492357 chr4:48492288-48492300 chr4:48492284-48492293 chr4:48492282-48492292
11	E2F6	chr4:48492070-48493186	H1-hESC	embryonic stem cell:	n/a	chr4:48492238-48492247 chr4:48492342-48492357 chr4:48492288-48492300 chr4:48492284-48492293 chr4:48492282-48492292

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:48492122-48492172	AG10803	skin:	n/a
2	chr4:48492122-48492172	HAEpiC	amniotic membrane:	n/a
3	chr4:48492118-48492168	AoSMC	blood vessel:	n/a
4	chr4:48492118-48492168	HEEpiC	esophagus:	n/a
5	chr4:48492122-48492172	NHDF-neo	bronchial:	n/a
6	chr4:48492118-48492168	GM12892	blood:	n/a
7	chr4:48492118-48492168	NHBE	bronchial:	n/a
8	chr4:48492118-48492168	HAEpiC	amniotic membrane:	n/a
9	chr4:48492118-48492168	HNPCEpiC	eye:	n/a
10	chr4:48492118-48492168	HUVEC	blood vessel:	n/a
11	chr4:48492122-48492172	AG04450	lung:	fetal
12	chr4:48492118-48492168	AG09309	skin:	n/a
13	chr4:48492118-48492168	ovcar-3	ovarian:	n/a
14	chr4:48492118-48492168	BE2_C	brain:	n/a
15	chr4:48492118-48492168	HCPEpiC	choroid plexus:	n/a
16	chr4:48492118-48492168	LNCaP	prostate:	n/a
17	chr4:48492122-48492172	GM12878	blood:	n/a
18	chr4:48492122-48492172	HUVEC	blood vessel:	n/a
19	chr4:48492118-48492168	SK-N-MC	brain:	n/a
20	chr4:48492122-48492172	HEK293	kidney:	embryo
21	chr4:48492118-48492168	HEK293	kidney:	embryo
22	chr4:48492118-48492168	Hela-S3	cervix:	n/a
23	chr4:48492122-48492172	Hepatocyte	liver:	n/a
24	chr4:48492122-48492172	AG09309	skin:	n/a
25	chr4:48492118-48492168	U87	brain:	n/a
26	chr4:48492118-48492168	HCM	heart:	n/a
27	chr4:48492118-48492168	HRE	kidney:	n/a
28	chr4:48492118-48492168	HRCEpiC	kidney:	n/a
29	chr4:48492118-48492168	CMK	blood:	n/a
30	chr4:48492122-48492172	AG04449	skin:	fetal
31	chr4:48492118-48492168	RPTEC	kidney:	n/a
32	chr4:48492122-48492172	MCF10A-Er-Src	breast:	n/a
33	chr4:48492118-48492168	AG10803	skin:	n/a
34	chr4:48492122-48492172	ovcar-3	ovarian:	n/a
35	chr4:48492122-48492172	HCPEpiC	choroid plexus:	n/a
36	chr4:48492122-48492172	NT2-D1	testis:	n/a
37	chr4:48492118-48492168	HMEC	breast:	n/a
38	chr4:48492118-48492168	NT2-D1	testis:	n/a
39	chr4:48492118-48492168	ProgFib	skin:	n/a
40	chr4:48492122-48492172	HIPEpiC	eye:	n/a
41	chr4:48492118-48492168	A549	lung:	n/a
42	chr4:48492118-48492168	NH-A	brain:	n/a
43	chr4:48492118-48492168	PFSK-1	brain:	n/a
44	chr4:48492118-48492168	GM19239	blood:	n/a
45	chr4:48492122-48492172	GM12892	blood:	n/a
46	chr4:48492122-48492172	ProgFib	skin:	n/a
47	chr4:48492122-48492172	NHBE	bronchial:	n/a
48	chr4:48492118-48492168	K562	blood:	n/a
49	chr4:48492118-48492168	BJ	skin:	n/a
50	chr4:48492118-48492168	HL-60	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48489612..48492154-chr4:48493154..48495602,2	K562	blood:

No data

Variant related genes	Relation type
ZAR1	TF binding region
ZAR1	CpG island

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10034207	1.00[AMR][1000 genomes]
rs10049760	1.00[AMR][1000 genomes]
rs10805171	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10805172	1.00[AMR][1000 genomes]
rs10938535	1.00[AMR][1000 genomes]
rs10938538	1.00[AMR][1000 genomes]
rs10938539	1.00[AMR][1000 genomes]
rs10938541	1.00[AMR][1000 genomes]
rs12500224	1.00[AMR][1000 genomes]
rs12500244	1.00[AMR][1000 genomes]
rs12507546	1.00[AMR][1000 genomes]
rs13125379	1.00[AMR][1000 genomes]
rs1474072	1.00[AMR][1000 genomes]
rs1517673	1.00[AMR][1000 genomes]
rs1517676	1.00[AMR][1000 genomes]
rs1517677	1.00[AMR][1000 genomes]
rs1616561	1.00[AMR][1000 genomes]
rs1702796	1.00[AMR][1000 genomes]
rs1702799	1.00[AMR][1000 genomes]
rs1712771	1.00[AMR][1000 genomes]
rs1949422	1.00[AMR][1000 genomes]
rs2138866	1.00[AMR][1000 genomes]
rs28371079	1.00[AMR][1000 genomes]
rs2883410	1.00[AMR][1000 genomes]
rs2940319	1.00[AMR][1000 genomes]
rs4235155	1.00[AMR][1000 genomes]
rs4235157	1.00[AMR][1000 genomes]
rs4330326	1.00[AMR][1000 genomes]
rs4558842	1.00[AMR][1000 genomes]
rs4694896	1.00[AMR][1000 genomes]
rs4694898	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4695385	1.00[AMR][1000 genomes]
rs4695386	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4695390	1.00[AMR][1000 genomes]
rs4998005	1.00[AMR][1000 genomes]
rs6447642	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6447654	1.00[AMR][1000 genomes]
rs6447656	1.00[AMR][1000 genomes]
rs6447657	1.00[AMR][1000 genomes]
rs6821456	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6823351	1.00[AMR][1000 genomes]
rs6827481	1.00[AMR][1000 genomes]
rs6835757	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6848222	1.00[AMR][1000 genomes]
rs6848417	1.00[AMR][1000 genomes]
rs6849798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6853876	1.00[AMR][1000 genomes]
rs707720	1.00[AMR][1000 genomes]
rs7434721	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7664507	1.00[AMR][1000 genomes]
rs7689293	1.00[AMR][1000 genomes]
rs7689662	1.00[AMR][1000 genomes]
rs7692480	1.00[AMR][1000 genomes]
rs776581	1.00[AMR][1000 genomes]
rs776583	1.00[AMR][1000 genomes]
rs776587	1.00[AMR][1000 genomes]
rs776589	1.00[AMR][1000 genomes]
rs776595	1.00[AMR][1000 genomes]
rs776603	1.00[AMR][1000 genomes]
rs938791	1.00[AMR][1000 genomes]
rs9997932	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470034	chr4:48427773-48605628	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv594121	chr4:48427773-48605628	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv829925	chr4:48467693-48639342	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv879008	chr4:48473439-48496804	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv879009	chr4:48476539-48494546	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48487200-48505800	Weak transcription	A549	lung
2	chr4:48491400-48493000	Transcr. at gene 5' and 3'	Cortex derived primary cultured neurospheres	brain
3	chr4:48491400-48493800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr4:48491400-48494400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr4:48491400-48495400	Weak transcription	K562	blood
6	chr4:48491600-48492200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr4:48491600-48492400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
8	chr4:48491600-48492400	Bivalent Enhancer	Fetal Brain Male	brain
9	chr4:48491600-48492600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:48491600-48492600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr4:48491600-48493400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
12	chr4:48491600-48493600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr4:48491600-48493800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
14	chr4:48491600-48493800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr4:48491600-48494000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr4:48491800-48492200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:48491800-48492200	Bivalent Enhancer	Primary B cells from cord blood	blood
18	chr4:48491800-48492200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
19	chr4:48491800-48492200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:48491800-48492200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
21	chr4:48491800-48492200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
22	chr4:48491800-48492200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr4:48491800-48492200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
24	chr4:48491800-48492200	Bivalent Enhancer	Left Ventricle	heart
25	chr4:48491800-48492200	Enhancers	Lung	lung
26	chr4:48491800-48492200	Bivalent/Poised TSS	Psoas Muscle	Psoas
27	chr4:48491800-48492200	Bivalent Enhancer	GM12878-XiMat	blood
28	chr4:48491800-48492400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
29	chr4:48491800-48492400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
30	chr4:48491800-48492400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
31	chr4:48491800-48492400	Bivalent Enhancer	Fetal Heart	heart
32	chr4:48491800-48492400	Bivalent Enhancer	Fetal Muscle Leg	muscle
33	chr4:48491800-48492400	Bivalent Enhancer	Placenta	Placenta
34	chr4:48491800-48492400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
35	chr4:48491800-48492600	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:48491800-48492600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr4:48491800-48492600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
38	chr4:48491800-48492600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
39	chr4:48491800-48492600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr4:48491800-48492600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr4:48491800-48492600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr4:48491800-48492600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
43	chr4:48491800-48492600	Bivalent Enhancer	Fetal Lung	lung
44	chr4:48491800-48492600	Bivalent Enhancer	Fetal Thymus	thymus
45	chr4:48491800-48492600	Flanking Active TSS	Pancreas	Pancrea
46	chr4:48491800-48492600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
47	chr4:48491800-48492600	Bivalent/Poised TSS	NHEK	skin
48	chr4:48491800-48492800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:48491800-48492800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr4:48491800-48492800	Flanking Active TSS	Right Ventricle	heart

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