Variant report

Variant	rs189427851
Chromosome Location	chr10:98590800-98590801
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:98590736-98590843	GM19239	blood:	n/a	n/a
2	CTCF	chr10:98590780-98590845	ProgFib	skin:	n/a	n/a
3	CTCF	chr10:98590760-98590839	GM19240	blood:	n/a	n/a
4	RCOR1	chr10:98590266-98590946	K562	blood:	n/a	n/a
5	CTCF	chr10:98590800-98590950	NHLF	lung:	n/a	chr10:98590851-98590864
6	POLR2A	chr10:98590498-98591063	K562	blood:	n/a	n/a
7	CTCF	chr10:98590741-98590869	GM12892	blood:	n/a	chr10:98590851-98590864
8	CTCF	chr10:98590779-98590804	Gliobla	brain:	n/a	n/a
9	CTCF	chr10:98590151-98590919	SK-N-SH	brain:	n/a	chr10:98590851-98590864 chr10:98590477-98590490
10	CTCF	chr10:98589953-98591136	A549	lung:	n/a	chr10:98590851-98590864 chr10:98590477-98590490
11	CTCF	chr10:98590746-98590840	GM12891	blood:	n/a	n/a
12	YY1	chr10:98590370-98590897	GM12892	blood:	n/a	n/a
13	HCFC1	chr10:98590460-98590977	K562	blood:	n/a	n/a
14	CTCF	chr10:98590700-98590850	SAEC	small airway:	n/a	n/a
15	RAD21	chr10:98590070-98590803	HCT-116	colon:	n/a	n/a
16	CTCF	chr10:98590779-98590825	H1-hESC	embryonic stem cell:	n/a	n/a
17	SMC3	chr10:98590233-98590829	GM12878	blood:	n/a	n/a
18	CTCF	chr10:98590746-98590836	GM19238	blood:	n/a	n/a
19	CTCF	chr10:98590765-98590822	MCF-7	breast:	n/a	n/a
20	CTCF	chr10:98590800-98590950	HRPEpiC	eye:	n/a	chr10:98590851-98590864
21	POLR2A	chr10:98590763-98590841	MCF-7	breast:	n/a	n/a
22	CTCF	chr10:98590744-98590827	Fibrobl	skin:	n/a	n/a
23	CTCF	chr10:98590068-98590855	HCT-116	colon:	n/a	chr10:98590477-98590490
24	CTCF	chr10:98590775-98590840	A549	lung:	n/a	n/a
25	CTCF	chr10:98590760-98590910	K562	blood:	n/a	chr10:98590851-98590864
26	CTCF	chr10:98590720-98590870	GM12872	blood:	n/a	chr10:98590851-98590864

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:98590797-98590847	GM12892	blood:	n/a
2	chr10:98590797-98590847	ECC-1	luminal epithelium:	n/a
3	chr10:98590797-98590847	SK-N-MC	brain:	n/a
4	chr10:98590797-98590847	HIPEpiC	eye:	n/a
5	chr10:98590797-98590847	NB4	blood:	n/a
6	chr10:98590797-98590847	HepG2	liver:	n/a
7	chr10:98590797-98590847	HNPCEpiC	eye:	n/a
8	chr10:98590797-98590847	HEK293	kidney:	embryo
9	chr10:98590797-98590847	HRCEpiC	kidney:	n/a
10	chr10:98590797-98590847	CMK	blood:	n/a
11	chr10:98590797-98590847	HCF	heart:	n/a
12	chr10:98590797-98590847	GM12878	blood:	n/a
13	chr10:98590797-98590847	HEEpiC	esophagus:	n/a
14	chr10:98590797-98590847	HAEpiC	amniotic membrane:	n/a
15	chr10:98590797-98590847	BJ	skin:	n/a
16	chr10:98590797-98590847	K562	blood:	n/a
17	chr10:98590797-98590847	AG10803	skin:	n/a
18	chr10:98590797-98590847	PFSK-1	brain:	n/a
19	chr10:98590797-98590847	PrEC	prostate:	n/a
20	chr10:98590797-98590847	ovcar-3	ovarian:	n/a
21	chr10:98590797-98590847	HRE	kidney:	n/a
22	chr10:98590797-98590847	BE2_C	brain:	n/a
23	chr10:98590797-98590847	MCF10A-Er-Src	breast:	n/a
24	chr10:98590797-98590847	NHBE	bronchial:	n/a
25	chr10:98590797-98590847	HCT-116	colon:	n/a
26	chr10:98590797-98590847	Caco-2	colon:	n/a
27	chr10:98590797-98590847	NHDF-neo	bronchial:	n/a
28	chr10:98590797-98590847	A549	lung:	n/a
29	chr10:98590797-98590847	T-47D	breast:	n/a
30	chr10:98590797-98590847	PANC-1	pancreas:	n/a
31	chr10:98590797-98590847	SAEC	small airway:	n/a
32	chr10:98590797-98590847	HCPEpiC	choroid plexus:	n/a
33	chr10:98590797-98590847	GM19239	blood:	n/a
34	chr10:98590797-98590847	HPAEpiC	pulmonary alveolar:	n/a
35	chr10:98590797-98590847	HMEC	breast:	n/a
36	chr10:98590797-98590847	Jurkat	blood:	n/a
37	chr10:98590797-98590847	NH-A	brain:	n/a
38	chr10:98590797-98590847	AoSMC	blood vessel:	n/a
39	chr10:98590797-98590847	HL-60	blood:	n/a
40	chr10:98590797-98590847	RPTEC	kidney:	n/a
41	chr10:98590797-98590847	AG09319	gingival:	n/a
42	chr10:98590797-98590847	SKMC	muscle:	n/a
43	chr10:98590797-98590847	NT2-D1	testis:	n/a
44	chr10:98590797-98590847	Hela-S3	cervix:	n/a
45	chr10:98590797-98590847	AG04449	skin:	fetal
46	chr10:98590797-98590847	HRPEpiC	eye:	n/a
47	chr10:98590797-98590847	GM12891	blood:	n/a
48	chr10:98590797-98590847	SK-N-SH_RA	brain:	n/a
49	chr10:98590797-98590847	U87	brain:	n/a
50	chr10:98590797-98590847	Hepatocyte	liver:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:98524912..98526111-chr10:98589792..98591303,11	MCF-7	breast:
2	chr10:98590420..98592007-chr10:98615843..98619097,3	K562	blood:
3	chr10:98549134..98550000-chr10:98589983..98590943,3	K562	blood:
4	chr10:98398475..98400373-chr10:98590281..98591916,2	MCF-7	breast:
5	chr10:98392223..98394189-chr10:98590324..98593027,3	MCF-7	breast:
6	chr10:98525204..98525891-chr10:98589963..98590854,2	K562	blood:
7	chr10:98272672..98275170-chr10:98590720..98593680,2	MCF-7	breast:
8	chr10:98584665..98586917-chr10:98589906..98591474,2	K562	blood:
9	chr10:98523538..98526378-chr10:98589191..98591883,2	MCF-7	breast:
10	chr10:98400341..98400974-chr10:98590389..98590915,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PIK3AP1-6	chr10:98590424-98592003	NONHSAT015837

No data

Variant related genes	Relation type
LCOR	TF binding region
MIR607	TF binding region
LCOR	CpG island
MIR607	CpG island
ENSG00000095587	Chromatin interaction
ENSG00000155629	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv532232	chr10:98360775-99141797	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv895910	chr10:98386483-98640994	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1053801	chr10:98506832-98610101	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
4	nsv825532	chr10:98567434-98618034	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
5	esv3427855	chr10:98590262-98594060	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:98587200-98591400	Weak transcription	Left Ventricle	heart
2	chr10:98588200-98591000	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr10:98589000-98591000	Enhancers	HepG2	liver
4	chr10:98589200-98591000	Enhancers	Duodenum Mucosa	Duodenum
5	chr10:98589200-98591000	Weak transcription	HSMMtube	muscle
6	chr10:98589200-98591200	Enhancers	Primary B cells from peripheral blood	blood
7	chr10:98589800-98591000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr10:98589800-98591000	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr10:98590000-98590800	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr10:98590000-98591000	Enhancers	Primary B cells from cord blood	blood
11	chr10:98590000-98591000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr10:98590000-98591000	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr10:98590000-98591000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr10:98590000-98591000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr10:98590000-98591000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr10:98590000-98591000	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr10:98590000-98591000	Enhancers	A549	lung
18	chr10:98590000-98591000	Enhancers	Osteobl	bone
19	chr10:98590000-98591200	Enhancers	Primary T cells from cord blood	blood
20	chr10:98590000-98591200	Enhancers	Primary hematopoietic stem cells	blood
21	chr10:98590000-98591200	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr10:98590000-98591200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr10:98590000-98591200	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr10:98590000-98591200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr10:98590000-98591400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr10:98590000-98591400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr10:98590000-98591400	Enhancers	Small Intestine	intestine
28	chr10:98590000-98591600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr10:98590000-98591600	Enhancers	Stomach Mucosa	stomach
30	chr10:98590200-98590800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr10:98590200-98590800	Enhancers	NHDF-Ad	bronchial
32	chr10:98590200-98591000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr10:98590200-98591000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr10:98590200-98591000	Enhancers	HMEC	breast
35	chr10:98590200-98591000	Enhancers	NHEK	skin
36	chr10:98590200-98591200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr10:98590200-98591200	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr10:98590200-98591200	Enhancers	Colon Smooth Muscle	Colon
39	chr10:98590200-98591200	Enhancers	Fetal Intestine Small	intestine
40	chr10:98590200-98594600	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr10:98590400-98590800	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr10:98590400-98590800	Enhancers	GM12878-XiMat	blood
43	chr10:98590400-98590800	Active TSS	K562	blood
44	chr10:98590400-98591000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr10:98590400-98591000	Enhancers	Brain Anterior Caudate	brain
46	chr10:98590400-98591200	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr10:98590400-98591200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr10:98590400-98591200	Enhancers	Brain Substantia Nigra	brain
49	chr10:98590400-98591200	Enhancers	Fetal Intestine Large	intestine
50	chr10:98590400-98591200	Weak transcription	Fetal Kidney	kidney

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