Variant report

Variant	esv2437420
Chromosome Location	chr10:44137856-44139392
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr10:44139361-44140214	K562	blood:	n/a	n/a
2	HMGN3	chr10:44138606-44138708	K562	blood:	n/a	n/a
3	KAP1	chr10:44138660-44140463	K562	blood:	n/a	n/a
4	KAP1	chr10:44139376-44140251	HEK293	kidney:	n/a	n/a
5	POLR2A	chr10:44138532-44138885	K562	blood:	n/a	n/a
6	POLR2A	chr10:44138808-44139002	GM12878	blood:	n/a	n/a
7	POLR2A	chr10:44137922-44138121	GM12878	blood:	n/a	n/a
8	POLR2A	chr10:44138043-44138050	K562	blood:	n/a	n/a
9	POLR2A	chr10:44137857-44138014	K562	blood:	n/a	n/a
10	POLR2A	chr10:44138584-44138748	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr10:44138040-44138365	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr10:44137383-44138330	K562	blood:	n/a	n/a
13	SETDB1	chr10:44137177-44138691	U2OS	brain:	n/a	n/a
14	SETDB1	chr10:44139287-44140418	U2OS	brain:	n/a	n/a
15	SETDB1	chr10:44138626-44140908	K562	blood:	n/a	n/a
16	STAT3	chr10:44139267-44139532	MCF10A-Er-Src	breast:	n/a	n/a
17	TCF12	chr10:44139296-44140243	A549	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr10:44132457..44135103-chr10:44137604..44139147,2	MCF-7	breast:
2	chr10:44068167..44069924-chr10:44136851..44139304,2	MCF-7	breast:
3	chr10:44136981..44138656-chr10:44141418..44144179,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF485-1	chr10:44139320-44139555	ENSG00000226245.1

No data

Variant related genes	Relation type
ZNF32-AS1	TF binding region
ZNF32-AS2	TF binding region
ENSG00000169740	chromatin interactions

Extended variants
information (count: 48 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150679025	chr10:44137894-44137895	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs369512886	chr10:44137900-44137901	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs141791701	chr10:44137937-44137938	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs572891095	chr10:44137939-44137940	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs113064728	chr10:44137945-44137946	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs374303795	chr10:44137968-44137969	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs540190656	chr10:44138015-44138016	ZNF genes & repeats Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs150771254	chr10:44138036-44138037	ZNF genes & repeats Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs181972734	chr10:44138040-44138041	ZNF genes & repeats Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs371366496	chr10:44138073-44138074	ZNF genes & repeats Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs562734899	chr10:44138074-44138075	ZNF genes & repeats Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs113424328	chr10:44138092-44138093	ZNF genes & repeats Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs570605207	chr10:44138109-44138110	ZNF genes & repeats Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs111525378	chr10:44138183-44138184	ZNF genes & repeats Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs367936879	chr10:44138184-44138185	ZNF genes & repeats Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs10793461	chr10:44138292-44138293	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs538181589	chr10:44138300-44138301	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs527680937	chr10:44138332-44138333	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs552904613	chr10:44138344-44138345	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs149959661	chr10:44138379-44138380	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs185024434	chr10:44138394-44138395	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs566551203	chr10:44138445-44138446	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs535489901	chr10:44138500-44138501	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs78876007	chr10:44138523-44138524	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs376636590	chr10:44138559-44138560	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs144105951	chr10:44138618-44138619	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs189878046	chr10:44138665-44138666	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs10736822	chr10:44138691-44138692	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs544779630	chr10:44138829-44138830	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs183273122	chr10:44138862-44138863	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs55878607	chr10:44138876-44138877	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs577765605	chr10:44138899-44138900	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs558620202	chr10:44138912-44138913	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs576744660	chr10:44138920-44138921	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs76757033	chr10:44138975-44138976	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs556404559	chr10:44138985-44138986	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs556151994	chr10:44139022-44139023	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs139895051	chr10:44139075-44139076	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs74138194	chr10:44139122-44139123	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs538935024	chr10:44139124-44139125	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs35254545	chr10:44139135-44139136	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs528881454	chr10:44139138-44139139	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs145336788	chr10:44139147-44139148	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs545874974	chr10:44139183-44139184	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs564167917	chr10:44139187-44139188	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs531579302	chr10:44139267-44139268	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs147701870	chr10:44139280-44139281	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs562202299	chr10:44139309-44139310	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44135600-44142800	ZNF genes & repeats	Fetal Brain Female	brain
2	chr10:44136800-44141600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
3	chr10:44136800-44142000	ZNF genes & repeats	Brain Germinal Matrix	brain
4	chr10:44136800-44142000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
5	chr10:44136800-44142200	ZNF genes & repeats	Brain Hippocampus Middle	brain
6	chr10:44136800-44142200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
7	chr10:44136800-44142400	ZNF genes & repeats	Liver	Liver
8	chr10:44136800-44142400	ZNF genes & repeats	HSMM	muscle
9	chr10:44136800-44143400	ZNF genes & repeats	Fetal Lung	lung
10	chr10:44137000-44139400	Weak transcription	Stomach Mucosa	stomach
11	chr10:44137000-44142000	ZNF genes & repeats	Brain Substantia Nigra	brain
12	chr10:44137000-44143000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
13	chr10:44137000-44143400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
14	chr10:44137000-44143600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr10:44137200-44138800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr10:44137200-44141600	ZNF genes & repeats	Brain Angular Gyrus	brain
17	chr10:44137200-44142000	ZNF genes & repeats	Primary B cells from cord blood	blood
18	chr10:44137200-44142200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
19	chr10:44137200-44142800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr10:44137200-44143200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr10:44137200-44143200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr10:44137200-44143400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
23	chr10:44137400-44142200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
24	chr10:44137400-44142200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr10:44137400-44142200	ZNF genes & repeats	Brain Anterior Caudate	brain
26	chr10:44137400-44142400	ZNF genes & repeats	Stomach Smooth Muscle	stomach
27	chr10:44137400-44142600	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
28	chr10:44137400-44143200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
29	chr10:44137400-44143200	ZNF genes & repeats	Fetal Kidney	kidney
30	chr10:44137400-44143400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr10:44137600-44138200	Strong transcription	Fetal Heart	heart
32	chr10:44137600-44142000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
33	chr10:44137600-44142200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr10:44137600-44142400	ZNF genes & repeats	Adipose Nuclei	Adipose
35	chr10:44137600-44142800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
36	chr10:44137600-44143200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr10:44137600-44143400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
38	chr10:44137800-44138000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr10:44137800-44138000	ZNF genes & repeats	Fetal Stomach	stomach
40	chr10:44137800-44138200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr10:44137800-44138200	ZNF genes & repeats	Aorta	Aorta
42	chr10:44137800-44138200	ZNF genes & repeats	Left Ventricle	heart
43	chr10:44137800-44138200	ZNF genes & repeats	Thymus	Thymus
44	chr10:44137800-44138400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr10:44137800-44141800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
46	chr10:44137800-44142000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr10:44137800-44142000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
48	chr10:44137800-44142200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
49	chr10:44137800-44142200	ZNF genes & repeats	Psoas Muscle	Psoas
50	chr10:44137800-44142400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin

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