Variant report

Variant	esv3693050
Chromosome Location	chr10:22154208-22160986
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
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	CTCF	chr10:22159595-22159682	MCF-7	breast:	n/a	n/a
2	CTCF	chr10:22159645-22159667	MCF-7	breast:	n/a	n/a
3	CTCF	chr10:22160776-22160818	ProgFib	skin:	n/a	n/a
4	CTCF	chr10:22159594-22159677	MCF-7	breast:	n/a	n/a
5	ESR1	chr10:22159698-22160024	T-47D	breast:	n/a	n/a
6	ESR1	chr10:22159759-22160023	T-47D	breast:	n/a	n/a
7	POLR2A	chr10:22160596-22160688	GM12878	blood:	n/a	n/a
8	POLR2A	chr10:22158181-22158262	MCF-7	breast:	n/a	n/a
9	POLR2A	chr10:22156550-22156637	H1-hESC	embryonic stem cell:	n/a	n/a
10	REST	chr10:22160614-22160916	MCF-7	breast:	n/a	n/a
11	SETDB1	chr10:22155720-22156077	U2OS	brain:	n/a	n/a
12	SRF	chr10:22160593-22160674	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:22158403-22158453	NB4	blood:	n/a
2	chr10:22158403-22158453	H1-hESC	embryonic stem cell:	embryo
3	chr10:22158403-22158453	AoSMC	blood vessel:	n/a
4	chr10:22158403-22158453	ECC-1	luminal epithelium:	n/a
5	chr10:22158403-22158453	HCM	heart:	n/a
6	chr10:22158403-22158453	ovcar-3	ovarian:	n/a
7	chr10:22158403-22158453	GM12878	blood:	n/a
8	chr10:22158403-22158453	Hela-S3	cervix:	n/a
9	chr10:22158403-22158453	GM12892	blood:	n/a
10	chr10:22158403-22158453	SK-N-SH	brain:	n/a
11	chr10:22158403-22158453	HEEpiC	esophagus:	n/a
12	chr10:22158403-22158453	Jurkat	blood:	n/a
13	chr10:22158403-22158453	SK-N-MC	brain:	n/a
14	chr10:22158403-22158453	A549	lung:	n/a
15	chr10:22158403-22158453	NHDF-neo	bronchial:	n/a
16	chr10:22158403-22158453	IMR90	lung:	fetal
17	chr10:22158403-22158453	AG09309	skin:	n/a
18	chr10:22158403-22158453	AG09319	gingival:	n/a
19	chr10:22158403-22158453	NT2-D1	testis:	n/a
20	chr10:22158403-22158453	HMEC	breast:	n/a
21	chr10:22158403-22158453	HL-60	blood:	n/a
22	chr10:22158403-22158453	AG04450	lung:	fetal
23	chr10:22158403-22158453	HCT-116	colon:	n/a
24	chr10:22158403-22158453	HIPEpiC	eye:	n/a
25	chr10:22158403-22158453	PANC-1	pancreas:	n/a
26	chr10:22158403-22158453	HepG2	liver:	n/a
27	chr10:22158403-22158453	HCPEpiC	choroid plexus:	n/a
28	chr10:22158403-22158453	GM06990	blood:	n/a
29	chr10:22158403-22158453	SKMC	muscle:	n/a
30	chr10:22158403-22158453	GM19239	blood:	n/a
31	chr10:22158403-22158453	BE2_C	brain:	n/a
32	chr10:22158403-22158453	HEK293	kidney:	embryo
33	chr10:22158403-22158453	K562	blood:	n/a
34	chr10:22158403-22158453	MCF10A-Er-Src	breast:	n/a
35	chr10:22158403-22158453	HRE	kidney:	n/a
36	chr10:22158403-22158453	NHBE	bronchial:	n/a
37	chr10:22158403-22158453	CMK	blood:	n/a
38	chr10:22158403-22158453	NH-A	brain:	n/a
39	chr10:22158403-22158453	HCF	heart:	n/a
40	chr10:22158403-22158453	AG04449	skin:	fetal
41	chr10:22158403-22158453	PFSK-1	brain:	n/a
42	chr10:22158403-22158453	HRCEpiC	kidney:	n/a
43	chr10:22158403-22158453	HPAEpiC	pulmonary alveolar:	n/a
44	chr10:22158403-22158453	MCF-7	breast:	n/a
45	chr10:22158403-22158453	Caco-2	colon:	n/a
46	chr10:22158403-22158453	HRPEpiC	eye:	n/a
47	chr10:22158403-22158453	SAEC	small airway:	n/a
48	chr10:22158403-22158453	Hepatocyte	liver:	n/a
49	chr10:22158403-22158453	BJ	skin:	n/a
50	chr10:22158403-22158453	T-47D	breast:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr10:22154173..22155847-chr10:22155964..22157700,2	K562	blood:
2	chr10:22155586..22157426-chr10:22165739..22167934,2	K562	blood:
3	chr10:22103511..22104392-chr10:22159456..22160254,3	MCF-7	breast:
4	chr10:22154173..22155847-chr10:22155964..22157700,2	K562	blood:

No data

Variant related genes	Relation type
DNAJC1	TF binding region
DNAJC1	CpG island

Extended variants
information (count: 219 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:219 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs792453	chr10:22154208-22154209	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs535992730	chr10:22154219-22154220	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs117041073	chr10:22154223-22154224	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs565964743	chr10:22154226-22154227	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs792452	chr10:22154237-22154238	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs115640041	chr10:22154260-22154261	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs114023733	chr10:22154293-22154294	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs146016598	chr10:22154354-22154355	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs557172948	chr10:22154360-22154361	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs574569521	chr10:22154371-22154372	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs575716288	chr10:22154394-22154395	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs140029471	chr10:22154398-22154399	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs541552335	chr10:22154399-22154400	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs561318992	chr10:22154410-22154411	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs185207829	chr10:22154433-22154434	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs541277292	chr10:22154436-22154437	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs188055380	chr10:22154458-22154459	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs548220897	chr10:22154461-22154462	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs112493998	chr10:22154477-22154478	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs533302442	chr10:22154483-22154484	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs549989648	chr10:22154492-22154493	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs143552650	chr10:22154504-22154505	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs533936512	chr10:22154514-22154515	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs113982785	chr10:22154540-22154541	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs181344912	chr10:22154548-22154549	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs533508470	chr10:22154552-22154553	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs534712033	chr10:22154576-22154577	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs556595485	chr10:22154610-22154611	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs551801212	chr10:22154631-22154632	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs554113378	chr10:22154731-22154732	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs537383054	chr10:22154766-22154767	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs557111402	chr10:22154774-22154775	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs573917068	chr10:22154845-22154846	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs148543003	chr10:22154881-22154882	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs373237837	chr10:22154936-22154937	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs147298361	chr10:22154946-22154947	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs555178442	chr10:22154956-22154957	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs202144213	chr10:22155066-22155067	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs78096050	chr10:22155067-22155068	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs571958169	chr10:22155124-22155125	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs540665055	chr10:22155126-22155127	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs186359557	chr10:22155251-22155252	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs376617709	chr10:22155253-22155254	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs369512476	chr10:22155254-22155255	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs545367928	chr10:22155385-22155386	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs191613184	chr10:22155387-22155388	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs78226555	chr10:22155510-22155511	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs183854550	chr10:22155573-22155574	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs372672913	chr10:22155619-22155620	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs546003220	chr10:22155742-22155743	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	21525872	CNVD
Prostate cancer	18632612	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22124200-22169800	Weak transcription	Right Ventricle	heart
2	chr10:22124400-22163000	Weak transcription	Ovary	ovary
3	chr10:22126200-22161800	Weak transcription	Left Ventricle	heart
4	chr10:22126600-22161800	Weak transcription	Pancreas	Pancrea
5	chr10:22133000-22157800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr10:22133400-22161000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr10:22137600-22159400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr10:22138000-22161400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr10:22139000-22161200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr10:22139200-22161200	Weak transcription	Fetal Lung	lung
11	chr10:22140000-22159800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr10:22140600-22159400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr10:22140600-22159600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr10:22140800-22156400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr10:22140800-22169800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr10:22140800-22174800	Weak transcription	HSMM	muscle
17	chr10:22141600-22157400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr10:22142200-22161200	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr10:22148600-22161600	Weak transcription	K562	blood
20	chr10:22149600-22180200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr10:22150200-22155600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr10:22150600-22155400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr10:22150600-22160000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr10:22151800-22156200	Weak transcription	Fetal Brain Male	brain
25	chr10:22152200-22161000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr10:22152600-22156400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr10:22153000-22169800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr10:22153000-22200600	Weak transcription	Osteobl	bone
29	chr10:22153200-22161000	Weak transcription	Fetal Stomach	stomach
30	chr10:22154000-22158800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr10:22155400-22156800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr10:22155400-22169800	Weak transcription	Colon Smooth Muscle	Colon
33	chr10:22155600-22155800	Weak transcription	Adipose Nuclei	Adipose
34	chr10:22155600-22156200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
35	chr10:22155600-22156400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr10:22156000-22156800	ZNF genes & repeats	Adipose Nuclei	Adipose
37	chr10:22156000-22161000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr10:22156200-22156800	ZNF genes & repeats	Fetal Brain Male	brain
39	chr10:22156200-22157400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr10:22156400-22156600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr10:22156400-22156600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr10:22156400-22156600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr10:22156400-22156600	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr10:22156400-22156600	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr10:22156400-22156600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr10:22156400-22156600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr10:22156400-22156600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
48	chr10:22156400-22157800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr10:22156400-22164000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr10:22156600-22157200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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