Variant report

Variant	nsv517287
Chromosome Location	chr10:50122181-50134266
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:366)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr10:50133164-50133393	K562	blood:	n/a	n/a
2	BRCA1	chr10:50133250-50133323	GM12878	blood:	n/a	n/a
3	CEBPB	chr10:50123630-50123681	Hela-S3	cervix:	n/a	chr10:50123633-50123644 chr10:50123632-50123643
4	CEBPB	chr10:50123477-50123805	HepG2	liver:	n/a	chr10:50123633-50123644 chr10:50123632-50123643
5	CEBPB	chr10:50123501-50123724	IMR90	lung:	n/a	chr10:50123633-50123644 chr10:50123632-50123643
6	CEBPB	chr10:50123481-50123774	A549	lung:	n/a	chr10:50123633-50123644 chr10:50123632-50123643
7	CEBPB	chr10:50123542-50123805	K562	blood:	n/a	chr10:50123633-50123644 chr10:50123632-50123643
8	CTCF	chr10:50131920-50132070	GM12868	blood:	n/a	n/a
9	FAM48A	chr10:50129249-50129327	GM12878	blood:	n/a	n/a
10	GATA3	chr10:50122151-50122420	SH-SY5Y	brain:	n/a	chr10:50122286-50122293 chr10:50122286-50122293 chr10:50122284-50122294 chr10:50122279-50122300 chr10:50122284-50122293 chr10:50122286-50122293
11	GATA3	chr10:50127664-50127853	SH-SY5Y	brain:	n/a	n/a
12	HMGN3	chr10:50122281-50122305	K562	blood:	n/a	n/a
13	MAZ	chr10:50133289-50133374	K562	blood:	n/a	n/a
14	POLR2A	chr10:50131664-50131750	GM12878	blood:	n/a	n/a
15	POLR2A	chr10:50130296-50130364	GM12878	blood:	n/a	n/a
16	POLR2A	chr10:50126972-50127069	GM12878	blood:	n/a	n/a
17	POLR2A	chr10:50124050-50124301	GM12878	blood:	n/a	n/a
18	POLR2A	chr10:50130246-50130267	GM12878	blood:	n/a	n/a
19	POLR2A	chr10:50125330-50125454	MCF10A-Er-Src	breast:	n/a	n/a
20	STAT3	chr10:50130826-50131140	MCF10A-Er-Src	breast:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:50122345-50122395	HCM	heart:	n/a
2	chr10:50123203-50123253	Hepatocyte	liver:	n/a
3	chr10:50122337-50122387	K562	blood:	n/a
4	chr10:50122387-50122437	NB4	blood:	n/a
5	chr10:50122387-50122437	GM06990	blood:	n/a
6	chr10:50122387-50122437	SK-N-SH_RA	brain:	n/a
7	chr10:50123344-50123394	HCM	heart:	n/a
8	chr10:50122337-50122387	U87	brain:	n/a
9	chr10:50122345-50122395	SAEC	small airway:	n/a
10	chr10:50123030-50123080	LNCaP	prostate:	n/a
11	chr10:50123030-50123080	BE2_C	brain:	n/a
12	chr10:50123030-50123080	HCM	heart:	n/a
13	chr10:50122337-50122387	HRPEpiC	eye:	n/a
14	chr10:50123344-50123394	SKMC	muscle:	n/a
15	chr10:50123344-50123394	PrEC	prostate:	n/a
16	chr10:50122345-50122395	U87	brain:	n/a
17	chr10:50123030-50123080	NH-A	brain:	n/a
18	chr10:50123030-50123080	HCPEpiC	choroid plexus:	n/a
19	chr10:50122345-50122395	BE2_C	brain:	n/a
20	chr10:50122387-50122437	HCF	heart:	n/a
21	chr10:50123203-50123253	SKMC	muscle:	n/a
22	chr10:50122345-50122395	GM12892	blood:	n/a
23	chr10:50122387-50122437	AG10803	skin:	n/a
24	chr10:50123203-50123253	PFSK-1	brain:	n/a
25	chr10:50122337-50122387	H1-hESC	embryonic stem cell:	embryo
26	chr10:50122345-50122395	HL-60	blood:	n/a
27	chr10:50122337-50122387	GM12891	blood:	n/a
28	chr10:50123344-50123394	Caco-2	colon:	n/a
29	chr10:50123203-50123253	Caco-2	colon:	n/a
30	chr10:50123030-50123080	IMR90	lung:	fetal
31	chr10:50123030-50123080	HAEpiC	amniotic membrane:	n/a
32	chr10:50122387-50122437	PANC-1	pancreas:	n/a
33	chr10:50123030-50123080	PANC-1	pancreas:	n/a
34	chr10:50122337-50122387	HCM	heart:	n/a
35	chr10:50122387-50122437	A549	lung:	n/a
36	chr10:50122345-50122395	PANC-1	pancreas:	n/a
37	chr10:50123030-50123080	SAEC	small airway:	n/a
38	chr10:50122345-50122395	NHDF-neo	bronchial:	n/a
39	chr10:50122387-50122437	HRPEpiC	eye:	n/a
40	chr10:50122345-50122395	MCF-7	breast:	n/a
41	chr10:50122337-50122387	SAEC	small airway:	n/a
42	chr10:50123203-50123253	SAEC	small airway:	n/a
43	chr10:50123030-50123080	GM12891	blood:	n/a
44	chr10:50123344-50123394	AG04449	skin:	fetal
45	chr10:50123344-50123394	HRPEpiC	eye:	n/a
46	chr10:50123030-50123080	HEK293	kidney:	embryo
47	chr10:50122387-50122437	HMEC	breast:	n/a
48	chr10:50123203-50123253	HCPEpiC	choroid plexus:	n/a
49	chr10:50123344-50123394	Jurkat	blood:	n/a
50	chr10:50122345-50122395	AG10803	skin:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr10:50118503..50121981-chr10:50130452..50133812,3	K562	blood:
2	chr10:50111891..50113631-chr10:50130975..50132682,2	K562	blood:
3	chr10:50131861..50135553-chr10:50138242..50140139,3	MCF-7	breast:
4	chr10:50132451..50134337-chr10:50514826..50516580,2	K562	blood:

No data

Variant related genes	Relation type
LRRC18	TF binding region
LRRC18	CpG island

Extended variants
information (count: 564 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:564 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7094610	chr10:50122181-50122182	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs200930283	chr10:50122190-50122191	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370521340	chr10:50122200-50122201	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs367775365	chr10:50122210-50122211	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183102845	chr10:50122218-50122219	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs60495132	chr10:50122227-50122228	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs79003434	chr10:50122231-50122232	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375199003	chr10:50122234-50122235	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs199527544	chr10:50122247-50122248	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558867855	chr10:50122299-50122300	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs577290215	chr10:50122324-50122325	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs187744321	chr10:50122331-50122332	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs556679486	chr10:50122332-50122333	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs574714433	chr10:50122337-50122338	Strong transcription Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs542041946	chr10:50122341-50122342	Strong transcription Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
16	rs74684165	chr10:50122345-50122346	Strong transcription Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs79638149	chr10:50122346-50122347	Strong transcription Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
18	rs191475672	chr10:50122348-50122349	Strong transcription Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs564079465	chr10:50122350-50122351	Strong transcription Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs184740292	chr10:50122384-50122385	Strong transcription Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs79584327	chr10:50122387-50122388	Strong transcription Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs188078887	chr10:50122388-50122389	Strong transcription Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
23	rs530273335	chr10:50122418-50122419	Strong transcription Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
24	rs372244999	chr10:50122429-50122430	Strong transcription Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
25	rs567058998	chr10:50122440-50122441	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2663065	chr10:50122447-50122448	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs12242178	chr10:50122489-50122490	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113705288	chr10:50122522-50122523	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140395845	chr10:50122539-50122540	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192120856	chr10:50122541-50122542	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556740563	chr10:50122557-50122558	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574976919	chr10:50122570-50122571	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142718717	chr10:50122572-50122573	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553884792	chr10:50122591-50122592	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2377652	chr10:50122596-50122597	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs115418715	chr10:50122609-50122610	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369839229	chr10:50122682-50122683	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561505153	chr10:50122684-50122685	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575658312	chr10:50122695-50122696	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144432772	chr10:50122747-50122748	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148488624	chr10:50122750-50122751	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185432125	chr10:50122756-50122757	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574961667	chr10:50122764-50122765	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79892871	chr10:50122774-50122775	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2377651	chr10:50122811-50122812	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs527866856	chr10:50122820-50122821	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77670873	chr10:50122826-50122827	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2377650	chr10:50122827-50122828	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs189487390	chr10:50122843-50122844	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550157047	chr10:50122877-50122878	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Schizophrenia	23813976	CNVD
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Autism	21948486	CNVD
cleft palate	21948486	CNVD
Encephalopathy	21948486	CNVD
Lung cancer	18438408	CNVD
T-cell primary immunodeficiency	21948486	CNVD
Autism	22543975	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
skeletal anomalies	21948486	CNVD
speech delay	21948486	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50072800-50126200	Strong transcription	Primary B cells from peripheral blood	blood
2	chr10:50074600-50129600	Strong transcription	Primary B cells from cord blood	blood
3	chr10:50075400-50126000	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr10:50101600-50122800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr10:50108400-50126000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr10:50109000-50126000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr10:50109400-50127800	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr10:50114200-50122800	Weak transcription	Lung	lung
9	chr10:50118200-50124800	Strong transcription	GM12878-XiMat	blood
10	chr10:50118800-50123600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr10:50120200-50122400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr10:50120400-50124800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr10:50121000-50123200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr10:50121000-50134800	Weak transcription	Spleen	Spleen
15	chr10:50121000-50155800	Weak transcription	Primary T cells from cord blood	blood
16	chr10:50122400-50123600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr10:50123200-50125400	Strong transcription	Primary hematopoietic stem cells	blood
18	chr10:50123600-50124000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr10:50123600-50124400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr10:50124000-50124400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr10:50124000-50124800	Enhancers	Fetal Muscle Leg	muscle
22	chr10:50124400-50124600	Enhancers	Fetal Stomach	stomach
23	chr10:50124400-50124800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr10:50124400-50127600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr10:50124800-50126000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr10:50124800-50131800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr10:50124800-50134400	Weak transcription	GM12878-XiMat	blood
28	chr10:50125400-50154400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr10:50126000-50127400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr10:50126000-50127400	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr10:50126000-50133000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr10:50126000-50133400	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr10:50126200-50130200	Weak transcription	Primary B cells from peripheral blood	blood
34	chr10:50126400-50127400	Weak transcription	Small Intestine	intestine
35	chr10:50127400-50127800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr10:50127400-50128200	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr10:50127600-50127800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr10:50127800-50147000	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr10:50127800-50150400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr10:50127800-50150600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr10:50128200-50133800	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr10:50129600-50130800	Weak transcription	Primary B cells from cord blood	blood
43	chr10:50130200-50143000	Strong transcription	Primary B cells from peripheral blood	blood
44	chr10:50130800-50143600	Strong transcription	Primary B cells from cord blood	blood
45	chr10:50131800-50132400	Enhancers	Fetal Muscle Leg	muscle
46	chr10:50131800-50132400	Enhancers	Fetal Stomach	stomach
47	chr10:50131800-50134200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr10:50132000-50132400	Enhancers	Fetal Lung	lung
49	chr10:50132000-50132400	Enhancers	Fetal Muscle Trunk	muscle
50	chr10:50132000-50132400	Enhancers	Stomach Mucosa	stomach

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