Variant report

Variant	rs189525801
Chromosome Location	chr10:43047797-43047798
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:131)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:131 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:43047580-43048734	GM18505	blood:	n/a	n/a
2	BHLHE40	chr10:43047423-43047809	K562	blood:	n/a	n/a
3	HEY1	chr10:43047410-43048408	K562	blood:	n/a	n/a
4	ZNF263	chr10:43046914-43048474	HEK293-T-REx	kidney:	n/a	n/a
5	POLR2A	chr10:43047792-43048706	GM12891	blood:	n/a	n/a
6	E2F6	chr10:43047474-43047970	K562	blood:	n/a	chr10:43047814-43047825
7	POLR2A	chr10:43047690-43048643	K562	blood:	n/a	n/a
8	UBTF	chr10:43047633-43048754	K562	blood:	n/a	n/a
9	CHD2	chr10:43047762-43048589	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr10:43047558-43048491	MCF-7	breast:	n/a	n/a
11	MAX	chr10:43047005-43048774	K562	blood:	n/a	n/a
12	MXI1	chr10:43047576-43048499	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr10:43047362-43048610	SK-N-SH	brain:	n/a	n/a
14	MAX	chr10:43047356-43048854	ECC-1	luminal epithelium:	n/a	n/a
15	SREBP1	chr10:43047449-43048812	GM12878	blood:	n/a	n/a
16	POLR2A	chr10:43047687-43048674	HL-60	blood:	n/a	n/a
17	GABPA	chr10:43047790-43048927	MCF-7	breast:	n/a	n/a
18	POLR2A	chr10:43047782-43048501	Gliobla	brain:	n/a	n/a
19	CBX3	chr10:43047484-43047987	K562	blood:	n/a	n/a
20	KAP1	chr10:43047250-43048854	HEK293	kidney:	n/a	n/a
21	POLR2A	chr10:43047500-43048675	HL-60	blood:	n/a	n/a
22	CHD2	chr10:43047404-43047977	K562	blood:	n/a	n/a
23	E2F6	chr10:43047067-43047999	K562	blood:	n/a	chr10:43047814-43047825
24	POLR2A	chr10:43047675-43048435	Hela-S3	cervix:	n/a	n/a
25	REST	chr10:43047462-43048681	H1-neurons	neurons:	n/a	chr10:43048484-43048502
26	POLR2A	chr10:43047735-43048670	K562	blood:	n/a	n/a
27	MAX	chr10:43047498-43048454	A549	lung:	n/a	n/a
28	TEAD4	chr10:43047441-43048483	K562	blood:	n/a	n/a
29	MAX	chr10:43047503-43048516	NB4	blood:	n/a	n/a
30	MTA3	chr10:43047594-43048033	GM12878	blood:	n/a	n/a
31	POLR2A	chr10:43047673-43047936	Hela-S3	cervix:	n/a	n/a
32	MAX	chr10:43047409-43048544	MCF-7	breast:	n/a	n/a
33	ZNF143	chr10:43047753-43048852	K562	blood:	n/a	chr10:43048570-43048579
34	TAF1	chr10:43047576-43047810	K562	blood:	n/a	n/a
35	MYC	chr10:43047544-43048195	MCF-7	breast:	n/a	n/a
36	MAX	chr10:43047356-43048073	ECC-1	luminal epithelium:	n/a	n/a
37	HMGN3	chr10:43047554-43048290	K562	blood:	n/a	n/a
38	UBTF	chr10:43047677-43048777	K562	blood:	n/a	n/a
39	MAX	chr10:43047451-43048038	H1-hESC	embryonic stem cell:	n/a	n/a
40	STAT3	chr10:43047789-43047966	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr10:43047554-43048593	K562	blood:	n/a	n/a
42	BHLHE40	chr10:43047425-43048669	GM12878	blood:	n/a	n/a
43	POLR2A	chr10:43047566-43047839	GM12878	blood:	n/a	n/a
44	MXI1	chr10:43047264-43048754	HepG2	liver:	n/a	n/a
45	MAX	chr10:43047590-43048570	Hela-S3	cervix:	n/a	n/a
46	E2F6	chr10:43047097-43048440	K562	blood:	n/a	chr10:43047814-43047825
47	POLR2A	chr10:43047385-43048647	GM12878	blood:	n/a	n/a
48	E2F4	chr10:43047674-43048477	K562	blood:	n/a	chr10:43047814-43047825
49	HCFC1	chr10:43047619-43049009	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr10:43047447-43048667	GM12892	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:43047784-43047834	HCT-116	colon:	n/a
2	chr10:43047784-43047834	AG09309	skin:	n/a
3	chr10:43047784-43047834	AG10803	skin:	n/a
4	chr10:43047784-43047834	U87	brain:	n/a
5	chr10:43047784-43047834	HRCEpiC	kidney:	n/a
6	chr10:43047784-43047834	HL-60	blood:	n/a
7	chr10:43047784-43047834	BE2_C	brain:	n/a
8	chr10:43047784-43047834	HepG2	liver:	n/a
9	chr10:43047784-43047834	GM12891	blood:	n/a
10	chr10:43047784-43047834	LNCaP	prostate:	n/a
11	chr10:43047784-43047834	HMEC	breast:	n/a
12	chr10:43047784-43047834	SK-N-SH_RA	brain:	n/a
13	chr10:43047784-43047834	NHDF-neo	bronchial:	n/a
14	chr10:43047784-43047834	NHBE	bronchial:	n/a
15	chr10:43047784-43047834	HEK293	kidney:	embryo
16	chr10:43047784-43047834	MCF-7	breast:	n/a
17	chr10:43047784-43047834	AG09319	gingival:	n/a
18	chr10:43047784-43047834	SK-N-MC	brain:	n/a
19	chr10:43047784-43047834	HAEpiC	amniotic membrane:	n/a
20	chr10:43047784-43047834	AG04450	lung:	fetal
21	chr10:43047784-43047834	H1-hESC	embryonic stem cell:	embryo
22	chr10:43047784-43047834	GM19239	blood:	n/a
23	chr10:43047784-43047834	HCPEpiC	choroid plexus:	n/a
24	chr10:43047784-43047834	ovcar-3	ovarian:	n/a
25	chr10:43047784-43047834	ProgFib	skin:	n/a
26	chr10:43047784-43047834	NB4	blood:	n/a
27	chr10:43047784-43047834	PrEC	prostate:	n/a
28	chr10:43047784-43047834	T-47D	breast:	n/a
29	chr10:43047784-43047834	HCF	heart:	n/a
30	chr10:43047784-43047834	HIPEpiC	eye:	n/a
31	chr10:43047784-43047834	HPAEpiC	pulmonary alveolar:	n/a
32	chr10:43047784-43047834	HEEpiC	esophagus:	n/a
33	chr10:43047784-43047834	SK-N-SH	brain:	n/a
34	chr10:43047784-43047834	AG04449	skin:	fetal
35	chr10:43047784-43047834	HNPCEpiC	eye:	n/a
36	chr10:43047784-43047834	NT2-D1	testis:	n/a
37	chr10:43047784-43047834	A549	lung:	n/a
38	chr10:43047784-43047834	HRE	kidney:	n/a
39	chr10:43047784-43047834	IMR90	lung:	fetal
40	chr10:43047784-43047834	HUVEC	blood vessel:	n/a
41	chr10:43047784-43047834	AoSMC	blood vessel:	n/a
42	chr10:43047784-43047834	Hela-S3	cervix:	n/a
43	chr10:43047784-43047834	HCM	heart:	n/a
44	chr10:43047784-43047834	CMK	blood:	n/a
45	chr10:43047784-43047834	BJ	skin:	n/a
46	chr10:43047784-43047834	GM12892	blood:	n/a
47	chr10:43047784-43047834	Jurkat	blood:	n/a
48	chr10:43047784-43047834	ECC-1	luminal epithelium:	n/a
49	chr10:43047784-43047834	GM06990	blood:	n/a
50	chr10:43047784-43047834	Hepatocyte	liver:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr10:43046301..43049301-chr10:43278095..43279962,3	K562	blood:
2	chr10:43043951..43049889-chr10:43132519..43135803,5	K562	blood:
3	chr10:43046145..43048386-chr10:43132522..43135382,4	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF33B-4	chr10:43047025-43048044	NONHSAT012891
2	lnc-ZNF33B-4	chr10:43047438-43047899	NONHSAT012895
3	lnc-ZNF33B-4	chr10:43047025-43048236	NONHSAT012894
4	lnc-ZNF33B-4	chr10:43047021-43048044	NONHSAT012901

No data

Variant related genes	Relation type
FXYD6P1	TF binding region
FXYD6P1	CpG island
ENSG00000196693	Chromatin interaction
ENSG00000165733	Chromatin interaction
ENSG00000272373	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817455	chr10:42607635-43151812	Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv550670	chr10:42725663-43089965	Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv550672	chr10:42753190-43441729	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv895054	chr10:42761931-43068841	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv895064	chr10:42783481-43243325	Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv466877	chr10:42794125-43066414	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv550683	chr10:42794125-43066414	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv533331	chr10:42830221-43356410	ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv1042764	chr10:42846383-43511712	Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
10	nsv895071	chr10:42864138-43066414	ZNF genes & repeats Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv895073	chr10:42884169-43066505	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv1050394	chr10:42890663-43604956	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
13	nsv540573	chr10:42890663-43604956	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
14	nsv534548	chr10:42890664-43729688	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
15	nsv469725	chr10:42965130-43178323	Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
16	nsv482513	chr10:42965130-43178323	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
17	esv2758216	chr10:42965131-43510191	Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
18	esv2759746	chr10:42965131-43510191	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
19	nsv948326	chr10:43045385-43047970	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
20	nsv8625	chr10:43046814-43052296	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43046200-43048000	Flanking Active TSS	Dnd41	blood
2	chr10:43046600-43047800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
3	chr10:43046600-43047800	Flanking Active TSS	Fetal Brain Female	brain
4	chr10:43046800-43047800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr10:43046800-43047800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr10:43046800-43047800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr10:43046800-43047800	Flanking Active TSS	Brain Angular Gyrus	brain
8	chr10:43046800-43047800	Flanking Active TSS	Brain Cingulate Gyrus	brain
9	chr10:43046800-43047800	Flanking Active TSS	Brain Germinal Matrix	brain
10	chr10:43046800-43047800	Flanking Active TSS	GM12878-XiMat	blood
11	chr10:43046800-43047800	Flanking Active TSS	Hela-S3	cervix
12	chr10:43046800-43048000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr10:43046800-43048000	Flanking Active TSS	K562	blood
14	chr10:43047000-43047800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr10:43047000-43047800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
16	chr10:43047000-43047800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr10:43047000-43047800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr10:43047000-43047800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr10:43047000-43047800	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr10:43047000-43047800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr10:43047000-43047800	Flanking Active TSS	Fetal Brain Male	brain
22	chr10:43047000-43047800	Flanking Active TSS	Fetal Thymus	thymus
23	chr10:43047000-43047800	Flanking Active TSS	Pancreas	Pancrea
24	chr10:43047000-43047800	Flanking Active TSS	Rectal Smooth Muscle	rectum
25	chr10:43047000-43047800	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr10:43047000-43048000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr10:43047000-43048000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr10:43047000-43048000	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr10:43047000-43048000	Flanking Active TSS	Liver	Liver
30	chr10:43047000-43048000	Flanking Active TSS	Fetal Muscle Trunk	muscle
31	chr10:43047000-43048000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr10:43047000-43048000	Flanking Active TSS	HMEC	breast
33	chr10:43047000-43048200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr10:43047000-43048200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr10:43047000-43048800	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr10:43047000-43049000	Active TSS	H9 Cell Line	embryonic stem cell
37	chr10:43047000-43049000	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr10:43047000-43049000	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr10:43047000-43049200	Active TSS	Fetal Kidney	kidney
40	chr10:43047000-43049200	Active TSS	A549	lung
41	chr10:43047200-43047800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
42	chr10:43047200-43047800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr10:43047200-43047800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr10:43047200-43047800	Flanking Active TSS	Primary B cells from peripheral blood	blood
45	chr10:43047200-43047800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
46	chr10:43047200-43047800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr10:43047200-43047800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr10:43047200-43047800	Flanking Active TSS	Colonic Mucosa	Colon
49	chr10:43047200-43047800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr10:43047200-43047800	Flanking Active TSS	Fetal Lung	lung

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