Variant report

Variant	rs12769505
Chromosome Location	chr10:98590888-98590889
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr10:98590266-98590946	K562	blood:	n/a	n/a
2	CTCF	chr10:98590800-98590950	NHLF	lung:	n/a	chr10:98590851-98590864
3	POLR2A	chr10:98590498-98591063	K562	blood:	n/a	n/a
4	CTCF	chr10:98590151-98590919	SK-N-SH	brain:	n/a	chr10:98590851-98590864 chr10:98590477-98590490
5	CTCF	chr10:98589953-98591136	A549	lung:	n/a	chr10:98590851-98590864 chr10:98590477-98590490
6	YY1	chr10:98590370-98590897	GM12892	blood:	n/a	n/a
7	HCFC1	chr10:98590460-98590977	K562	blood:	n/a	n/a
8	CUX1	chr10:98590880-98591057	K562	blood:	n/a	n/a
9	CTCF	chr10:98590800-98590950	HRPEpiC	eye:	n/a	chr10:98590851-98590864
10	CTCF	chr10:98590760-98590910	K562	blood:	n/a	chr10:98590851-98590864

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:98590849-98590899	NH-A	brain:	n/a
2	chr10:98590849-98590899	ovcar-3	ovarian:	n/a
3	chr10:98590849-98590899	HCT-116	colon:	n/a
4	chr10:98590849-98590899	T-47D	breast:	n/a
5	chr10:98590849-98590899	AG04449	skin:	fetal
6	chr10:98590849-98590899	BE2_C	brain:	n/a
7	chr10:98590849-98590899	BJ	skin:	n/a
8	chr10:98590849-98590899	PrEC	prostate:	n/a
9	chr10:98590849-98590899	AG09309	skin:	n/a
10	chr10:98590849-98590899	NHBE	bronchial:	n/a
11	chr10:98590849-98590899	GM12878	blood:	n/a
12	chr10:98590849-98590899	GM19239	blood:	n/a
13	chr10:98590849-98590899	PFSK-1	brain:	n/a
14	chr10:98590849-98590899	AoSMC	blood vessel:	n/a
15	chr10:98590849-98590899	HL-60	blood:	n/a
16	chr10:98590849-98590899	HepG2	liver:	n/a
17	chr10:98590849-98590899	HNPCEpiC	eye:	n/a
18	chr10:98590849-98590899	K562	blood:	n/a
19	chr10:98590849-98590899	HRCEpiC	kidney:	n/a
20	chr10:98590849-98590899	HEK293	kidney:	embryo
21	chr10:98590849-98590899	NB4	blood:	n/a
22	chr10:98590849-98590899	HRPEpiC	eye:	n/a
23	chr10:98590849-98590899	HRE	kidney:	n/a
24	chr10:98590849-98590899	SKMC	muscle:	n/a
25	chr10:98590849-98590899	HAEpiC	amniotic membrane:	n/a
26	chr10:98590849-98590899	HPAEpiC	pulmonary alveolar:	n/a
27	chr10:98590849-98590899	GM12892	blood:	n/a
28	chr10:98590849-98590899	AG04450	lung:	fetal
29	chr10:98590849-98590899	Caco-2	colon:	n/a
30	chr10:98590849-98590899	MCF-7	breast:	n/a
31	chr10:98590849-98590899	U87	brain:	n/a
32	chr10:98590849-98590899	LNCaP	prostate:	n/a
33	chr10:98590849-98590899	Hela-S3	cervix:	n/a
34	chr10:98590849-98590899	PANC-1	pancreas:	n/a
35	chr10:98590849-98590899	CMK	blood:	n/a
36	chr10:98590849-98590899	HUVEC	blood vessel:	n/a
37	chr10:98590849-98590899	A549	lung:	n/a
38	chr10:98590849-98590899	IMR90	lung:	fetal
39	chr10:98590849-98590899	SK-N-SH_RA	brain:	n/a
40	chr10:98590849-98590899	MCF10A-Er-Src	breast:	n/a
41	chr10:98590849-98590899	ProgFib	skin:	n/a
42	chr10:98590849-98590899	HEEpiC	esophagus:	n/a
43	chr10:98590849-98590899	HCF	heart:	n/a
44	chr10:98590849-98590899	GM06990	blood:	n/a
45	chr10:98590849-98590899	HMEC	breast:	n/a
46	chr10:98590849-98590899	ECC-1	luminal epithelium:	n/a
47	chr10:98590849-98590899	NT2-D1	testis:	n/a
48	chr10:98590849-98590899	Jurkat	blood:	n/a
49	chr10:98590849-98590899	AG09319	gingival:	n/a
50	chr10:98590849-98590899	GM12891	blood:	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	chr10:98272672..98275170-chr10:98590720..98593680,2	MCF-7	breast:
7	chr10:98584665..98586917-chr10:98589906..98591474,2	K562	blood:
8	chr10:98133863..98136449-chr10:98590863..98592811,2	MCF-7	breast:
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:82 , 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	chr10:98590000-98591000	Enhancers	Primary B cells from cord blood	blood
10	chr10:98590000-98591000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr10:98590000-98591000	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr10:98590000-98591000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr10:98590000-98591000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr10:98590000-98591000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr10:98590000-98591000	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr10:98590000-98591000	Enhancers	A549	lung
17	chr10:98590000-98591000	Enhancers	Osteobl	bone
18	chr10:98590000-98591200	Enhancers	Primary T cells from cord blood	blood
19	chr10:98590000-98591200	Enhancers	Primary hematopoietic stem cells	blood
20	chr10:98590000-98591200	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr10:98590000-98591200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr10:98590000-98591200	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr10:98590000-98591200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr10:98590000-98591400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr10:98590000-98591400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr10:98590000-98591400	Enhancers	Small Intestine	intestine
27	chr10:98590000-98591600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr10:98590000-98591600	Enhancers	Stomach Mucosa	stomach
29	chr10:98590200-98591000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr10:98590200-98591000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr10:98590200-98591000	Enhancers	HMEC	breast
32	chr10:98590200-98591000	Enhancers	NHEK	skin
33	chr10:98590200-98591200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr10:98590200-98591200	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr10:98590200-98591200	Enhancers	Colon Smooth Muscle	Colon
36	chr10:98590200-98591200	Enhancers	Fetal Intestine Small	intestine
37	chr10:98590200-98594600	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr10:98590400-98591000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr10:98590400-98591000	Enhancers	Brain Anterior Caudate	brain
40	chr10:98590400-98591200	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr10:98590400-98591200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr10:98590400-98591200	Enhancers	Brain Substantia Nigra	brain
43	chr10:98590400-98591200	Enhancers	Fetal Intestine Large	intestine
44	chr10:98590400-98591200	Weak transcription	Fetal Kidney	kidney
45	chr10:98590400-98591200	Enhancers	HUVEC	blood vessel
46	chr10:98590400-98594400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr10:98590400-98594400	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr10:98590600-98591000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr10:98590600-98591000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr10:98590600-98591000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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