Variant report

Variant	esv3452930
Chromosome Location	chr10:51886486-52002444
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr10:51976432-51976444	HepG2	liver:	n/a	n/a
2	ARID3A	chr10:51994435-51994634	HepG2	liver:	n/a	n/a
3	BATF	chr10:51984168-51984477	GM12878	blood:	n/a	n/a
4	BATF	chr10:51984190-51984474	GM12878	blood:	n/a	n/a
5	BATF	chr10:51991390-51991694	GM12878	blood:	n/a	n/a
6	BATF	chr10:51922567-51922785	GM12878	blood:	n/a	n/a
7	BATF	chr10:51932652-51932839	GM12878	blood:	n/a	chr10:51932736-51932747
8	BCL11A	chr10:51991318-51991679	GM12878	blood:	n/a	n/a
9	BHLHE40	chr10:51903317-51903550	HepG2	liver:	n/a	n/a
10	CEBPB	chr10:51922509-51922875	K562	blood:	n/a	chr10:51922715-51922724 chr10:51922715-51922724 chr10:51922715-51922724 chr10:51922715-51922724 chr10:51922713-51922726 chr10:51922715-51922726
11	CEBPB	chr10:51922602-51922774	K562	blood:	n/a	chr10:51922715-51922724 chr10:51922715-51922724 chr10:51922715-51922724 chr10:51922715-51922724 chr10:51922713-51922726 chr10:51922715-51922726
12	CEBPB	chr10:52001086-52001319	HepG2	liver:	n/a	n/a
13	CTCF	chr10:51924873-51925019	A549	lung:	n/a	chr10:51924952-51924973 chr10:51924950-51924968 chr10:51924951-51924967
14	CTCF	chr10:51918048-51918151	GM20000	blood:	n/a	n/a
15	CTCF	chr10:51984146-51984434	A549	lung:	n/a	chr10:51984272-51984290 chr10:51984267-51984288
16	CTCF	chr10:51912640-51912790	SK-N-SH_RA	brain:	n/a	n/a
17	CTCF	chr10:51924862-51925086	A549	lung:	n/a	chr10:51924952-51924973 chr10:51924950-51924968 chr10:51924951-51924967
18	CTCF	chr10:51984184-51984406	MCF-7	breast:	n/a	chr10:51984272-51984290 chr10:51984267-51984288
19	CTCF	chr10:51959928-51960016	Lung_OC	lung:	n/a	n/a
20	CTCF	chr10:51983441-51983444	Spleen_OC	spleen:	n/a	n/a
21	CTCF	chr10:51906087-51906172	GM13976	blood:	n/a	n/a
22	CTCF	chr10:51984106-51984463	A549	lung:	n/a	chr10:51984272-51984290 chr10:51984267-51984288
23	CTCF	chr10:51902238-51902253	GM10266	blood:	n/a	n/a
24	CTCF	chr10:51984086-51984467	K562	blood:	n/a	chr10:51984272-51984290 chr10:51984267-51984288
25	CTCF	chr10:51904301-51904409	GM20000	blood:	n/a	n/a
26	CTCF	chr10:51904986-51905064	GM10266	blood:	n/a	n/a
27	CTCF	chr10:51927039-51927122	GM13976	blood:	n/a	n/a
28	CTCF	chr10:51984199-51984381	H1-hESC	embryonic stem cell:	n/a	chr10:51984272-51984290 chr10:51984267-51984288
29	CTCF	chr10:51904470-51904568	GM20000	blood:	n/a	n/a
30	CTCF	chr10:51924876-51925008	GM10266	blood:	n/a	chr10:51924952-51924973 chr10:51924950-51924968 chr10:51924951-51924967
31	CTCF	chr10:51902967-51903051	GM20000	blood:	n/a	n/a
32	CTCF	chr10:51929264-51929296	Kidney_OC	kidney:	n/a	n/a
33	CTCF	chr10:51887742-51888087	K562	blood:	n/a	chr10:51887834-51887847 chr10:51887827-51887848 chr10:51887872-51887885 chr10:51887816-51887824 chr10:51887832-51887850 chr10:51887817-51887825 chr10:51887837-51887846 chr10:51887872-51887885
34	CTCF	chr10:51924828-51925017	K562	blood:	n/a	chr10:51924952-51924973 chr10:51924950-51924968 chr10:51924951-51924967
35	CTCF	chr10:51906222-51906300	GM20000	blood:	n/a	n/a
36	CTCF	chr10:51984157-51984366	A549	lung:	n/a	chr10:51984272-51984290 chr10:51984267-51984288
37	CTCF	chr10:51998273-51998342	GM13977	blood:	n/a	n/a
38	CTCF	chr10:51890791-51890836	GM13977	blood:	n/a	n/a
39	CTCF	chr10:52002020-52002075	K562	blood:	n/a	n/a
40	CTCF	chr10:51984176-51984403	Pancreas_OC	pancreas:	n/a	chr10:51984272-51984290 chr10:51984267-51984288
41	CTCF	chr10:51912630-51912712	GM19240	blood:	n/a	n/a
42	CTCF	chr10:51928329-51928352	GM10248	blood:	n/a	n/a
43	CTCF	chr10:51924855-51925027	Pancreas_OC	pancreas:	n/a	chr10:51924952-51924973 chr10:51924950-51924968 chr10:51924951-51924967
44	CTCF	chr10:51950792-51950850	Kidney_OC	kidney:	n/a	n/a
45	CTCF	chr10:51900267-51900352	GM20000	blood:	n/a	n/a
46	CTCF	chr10:51912768-51912811	Spleen_OC	spleen:	n/a	n/a
47	CTCF	chr10:51984171-51984407	GM19240	blood:	n/a	chr10:51984272-51984290 chr10:51984267-51984288
48	CTCF	chr10:51924876-51925024	GM13977	blood:	n/a	chr10:51924952-51924973 chr10:51924950-51924968 chr10:51924951-51924967
49	CTCF	chr10:51888186-51888267	GM13976	blood:	n/a	n/a
50	CTCF	chr10:51890774-51890878	Lung_OC	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:51912631-51912681	NB4	blood:	n/a
2	chr10:51912631-51912681	HEEpiC	esophagus:	n/a
3	chr10:51912805-51912855	PrEC	prostate:	n/a
4	chr10:51911889-51911939	BE2_C	brain:	n/a
5	chr10:51911889-51911939	HRCEpiC	kidney:	n/a
6	chr10:51911889-51911939	ECC-1	luminal epithelium:	n/a
7	chr10:51912805-51912855	GM06990	blood:	n/a
8	chr10:51911889-51911939	HUVEC	blood vessel:	n/a
9	chr10:51912805-51912855	A549	lung:	n/a
10	chr10:51912805-51912855	T-47D	breast:	n/a
11	chr10:51911889-51911939	CMK	blood:	n/a
12	chr10:51911889-51911939	PANC-1	pancreas:	n/a
13	chr10:51912805-51912855	PFSK-1	brain:	n/a
14	chr10:51911889-51911939	ProgFib	skin:	n/a
15	chr10:51911889-51911939	GM19239	blood:	n/a
16	chr10:51911889-51911939	HIPEpiC	eye:	n/a
17	chr10:51912631-51912681	T-47D	breast:	n/a
18	chr10:51912631-51912681	HNPCEpiC	eye:	n/a
19	chr10:51912631-51912681	ECC-1	luminal epithelium:	n/a
20	chr10:51912805-51912855	IMR90	lung:	fetal
21	chr10:51912631-51912681	AG04449	skin:	fetal
22	chr10:51912631-51912681	AG04450	lung:	fetal
23	chr10:51912805-51912855	NHBE	bronchial:	n/a
24	chr10:51911889-51911939	Hela-S3	cervix:	n/a
25	chr10:51912805-51912855	K562	blood:	n/a
26	chr10:51911889-51911939	AoSMC	blood vessel:	n/a
27	chr10:51912631-51912681	HEK293	kidney:	embryo
28	chr10:51912805-51912855	H1-hESC	embryonic stem cell:	embryo
29	chr10:51912631-51912681	BE2_C	brain:	n/a
30	chr10:51911889-51911939	PFSK-1	brain:	n/a
31	chr10:51912631-51912681	PrEC	prostate:	n/a
32	chr10:51912805-51912855	AG04449	skin:	fetal
33	chr10:51912805-51912855	SAEC	small airway:	n/a
34	chr10:51912631-51912681	SAEC	small airway:	n/a
35	chr10:51911889-51911939	HCM	heart:	n/a
36	chr10:51911889-51911939	AG09319	gingival:	n/a
37	chr10:51912631-51912681	HMEC	breast:	n/a
38	chr10:51912631-51912681	IMR90	lung:	fetal
39	chr10:51912805-51912855	HPAEpiC	pulmonary alveolar:	n/a
40	chr10:51912805-51912855	PANC-1	pancreas:	n/a
41	chr10:51912631-51912681	HCF	heart:	n/a
42	chr10:51911889-51911939	GM12892	blood:	n/a
43	chr10:51911889-51911939	NT2-D1	testis:	n/a
44	chr10:51912805-51912855	AG09319	gingival:	n/a
45	chr10:51912805-51912855	HNPCEpiC	eye:	n/a
46	chr10:51912631-51912681	HCPEpiC	choroid plexus:	n/a
47	chr10:51911889-51911939	AG04450	lung:	fetal
48	chr10:51912631-51912681	GM12892	blood:	n/a
49	chr10:51912631-51912681	ovcar-3	ovarian:	n/a
50	chr10:51912805-51912855	BE2_C	brain:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:52001284..52004039-chr10:52006500..52009846,3	K562	blood:

Variant related genes	Relation type
SLC9A3P1	TF binding region
ASAH2	TF binding region
SLC9A3P1	CpG island
ASAH2	CpG island
ENSG00000188611	chromatin interactions

Extended variants
information (count: 248 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:248 , 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	rs112443072	chr10:51887422-51887423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576736035	chr10:51887542-51887543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545487967	chr10:51887719-51887720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529234090	chr10:51888096-51888097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556179695	chr10:51888121-51888122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576105998	chr10:51888272-51888273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542038255	chr10:51888332-51888333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561900215	chr10:51888369-51888370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2669768	chr10:51888388-51888389	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs527563138	chr10:51888389-51888390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2669767	chr10:51888402-51888403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186788091	chr10:51888412-51888413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191637429	chr10:51888440-51888441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111572410	chr10:51888443-51888444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549954343	chr10:51888482-51888483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2338072	chr10:51888557-51888558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185858514	chr10:51888562-51888563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549142641	chr10:51888809-51888810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565905383	chr10:51888829-51888830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534901899	chr10:51888841-51888842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551614909	chr10:51888863-51888864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571848189	chr10:51888997-51888998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539418336	chr10:51889019-51889020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555929154	chr10:51889111-51889112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190172043	chr10:51889145-51889146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371353909	chr10:51889146-51889147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374910730	chr10:51889157-51889158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535574375	chr10:51889182-51889183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555524419	chr10:51889183-51889184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572237385	chr10:51889189-51889190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370231804	chr10:51889211-51889212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541237468	chr10:51889321-51889322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564359168	chr10:51889375-51889376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577899274	chr10:51889614-51889615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543782780	chr10:51889815-51889816	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563559800	chr10:51889817-51889818	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529269673	chr10:51889904-51889905	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549029968	chr10:51889926-51889927	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562663957	chr10:51890369-51890370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559427087	chr10:51890458-51890459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528612236	chr10:51890477-51890478	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78369021	chr10:51890577-51890578	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372236284	chr10:51890666-51890667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376582947	chr10:51890677-51890678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112307181	chr10:51891701-51891702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551736593	chr10:51891881-51891882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375311421	chr10:51891914-51891915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571902761	chr10:51891923-51891924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537380370	chr10:51891976-51891977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549730219	chr10:51892193-51892194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
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
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
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
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21785460	CNVD
Intellectual disability	21948486	CNVD
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
skeletal anomalies	21948486	CNVD
Autism	21948486	CNVD
speech delay	21948486	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:51828600-51891800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr10:51828600-51893400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr10:51828800-51889800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr10:51836400-51894000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr10:51852800-51892000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr10:51858400-51891000	Weak transcription	Adipose Nuclei	Adipose
7	chr10:51869000-51891400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr10:51872000-51891400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr10:51878000-51891600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr10:51883200-51895000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr10:51889000-51891400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr10:51889800-51890600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr10:51890200-51893000	Weak transcription	Osteobl	bone
14	chr10:51890600-51892200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr10:51892800-51895600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr10:51912600-51913000	Active TSS	Brain Germinal Matrix	brain
17	chr10:51977000-51977600	Enhancers	HepG2	liver
18	chr10:51977600-51978000	Weak transcription	HepG2	liver
19	chr10:51978000-51978400	Enhancers	HepG2	liver
20	chr10:52000000-52002000	Weak transcription	Fetal Intestine Small	intestine
21	chr10:52000000-52003000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr10:52002000-52002200	Strong transcription	Fetal Intestine Small	intestine
23	chr10:52002200-52002400	Bivalent Enhancer	K562	blood
24	chr10:52002200-52002800	Weak transcription	Fetal Intestine Small	intestine
25	chr10:52002400-52003800	Enhancers	K562	blood

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