Variant report

Variant	nsv521271
Chromosome Location	chr10:51912781-52009648
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	chr10:51994435-51994634	HepG2	liver:	n/a	n/a
2	ARID3A	chr10:51976432-51976444	HepG2	liver:	n/a	n/a
3	BATF	chr10:51984190-51984474	GM12878	blood:	n/a	n/a
4	BATF	chr10:51932652-51932839	GM12878	blood:	n/a	chr10:51932736-51932747
5	BATF	chr10:51984168-51984477	GM12878	blood:	n/a	n/a
6	BATF	chr10:51922567-51922785	GM12878	blood:	n/a	n/a
7	BATF	chr10:51991390-51991694	GM12878	blood:	n/a	n/a
8	BCL11A	chr10:51991318-51991679	GM12878	blood:	n/a	n/a
9	CEBPB	chr10:52001086-52001319	HepG2	liver:	n/a	n/a
10	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
11	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
12	CTCF	chr10:51983441-51983444	Spleen_OC	spleen:	n/a	n/a
13	CTCF	chr10:51984191-51984384	MCF-7	breast:	n/a	chr10:51984272-51984290 chr10:51984267-51984288
14	CTCF	chr10:51977364-51977393	GM10266	blood:	n/a	n/a
15	CTCF	chr10:51929264-51929296	Kidney_OC	kidney:	n/a	n/a
16	CTCF	chr10:51971258-51971321	GM13976	blood:	n/a	n/a
17	CTCF	chr10:51959908-51960029	GM13977	blood:	n/a	n/a
18	CTCF	chr10:51984172-51984422	Spleen_OC	spleen:	n/a	chr10:51984272-51984290 chr10:51984267-51984288
19	CTCF	chr10:51913213-51913304	GM20000	blood:	n/a	n/a
20	CTCF	chr10:51997616-51997684	Lung_OC	lung:	n/a	n/a
21	CTCF	chr10:51924873-51925019	A549	lung:	n/a	chr10:51924952-51924973 chr10:51924950-51924968 chr10:51924951-51924967
22	CTCF	chr10:51947520-51947586	GM20000	blood:	n/a	chr10:51947545-51947566
23	CTCF	chr10:51959902-51960064	LNCaP	prostate:	n/a	n/a
24	CTCF	chr10:51959842-51960051	Medullo	brain:	n/a	n/a
25	CTCF	chr10:51959924-51960039	GM10248	blood:	n/a	n/a
26	CTCF	chr10:51967994-51968056	Medullo	brain:	n/a	n/a
27	CTCF	chr10:51984170-51984428	Medullo	brain:	n/a	chr10:51984272-51984290 chr10:51984267-51984288
28	CTCF	chr10:51933255-51933357	Lung_OC	lung:	n/a	n/a
29	CTCF	chr10:51984178-51984402	LNCaP	prostate:	n/a	chr10:51984272-51984290 chr10:51984267-51984288
30	CTCF	chr10:51984145-51984434	MCF-7	breast:	n/a	chr10:51984272-51984290 chr10:51984267-51984288
31	CTCF	chr10:51998273-51998342	GM13977	blood:	n/a	n/a
32	CTCF	chr10:51984146-51984434	A549	lung:	n/a	chr10:51984272-51984290 chr10:51984267-51984288
33	CTCF	chr10:51924880-51924990	GM10248	blood:	n/a	chr10:51924952-51924973 chr10:51924950-51924968 chr10:51924951-51924967
34	CTCF	chr10:51984169-51984459	K562	blood:	n/a	chr10:51984272-51984290 chr10:51984267-51984288
35	CTCF	chr10:51959864-51960021	GM10266	blood:	n/a	n/a
36	CTCF	chr10:51984144-51984422	NHEK	skin:	n/a	chr10:51984272-51984290 chr10:51984267-51984288
37	CTCF	chr10:51924850-51925035	LNCaP	prostate:	n/a	chr10:51924952-51924973 chr10:51924950-51924968 chr10:51924951-51924967
38	CTCF	chr10:51920176-51920185	GM20000	blood:	n/a	n/a
39	CTCF	chr10:51984199-51984381	H1-hESC	embryonic stem cell:	n/a	chr10:51984272-51984290 chr10:51984267-51984288
40	CTCF	chr10:51944089-51944169	Pancreas_OC	pancreas:	n/a	n/a
41	CTCF	chr10:51924880-51924999	GM20000	blood:	n/a	chr10:51924952-51924973 chr10:51924950-51924968 chr10:51924951-51924967
42	CTCF	chr10:51924876-51925024	GM13977	blood:	n/a	chr10:51924952-51924973 chr10:51924950-51924968 chr10:51924951-51924967
43	CTCF	chr10:51984204-51984392	GM10248	blood:	n/a	chr10:51984272-51984290 chr10:51984267-51984288
44	CTCF	chr10:51924905-51925042	Lung_OC	lung:	n/a	chr10:51924952-51924973 chr10:51924950-51924968 chr10:51924951-51924967
45	CTCF	chr10:51947528-51947574	LNCaP	prostate:	n/a	chr10:51947545-51947566
46	CTCF	chr10:51984141-51984439	GM12878	blood:	n/a	chr10:51984272-51984290 chr10:51984267-51984288
47	CTCF	chr10:51984158-51984416	HUVEC	blood vessel:	n/a	chr10:51984272-51984290 chr10:51984267-51984288
48	CTCF	chr10:51958799-51958839	GM10266	blood:	n/a	n/a
49	CTCF	chr10:51924895-51924996	GM13976	blood:	n/a	chr10:51924952-51924973 chr10:51924950-51924968 chr10:51924951-51924967
50	CTCF	chr10:51947495-51947622	LNCaP	prostate:	n/a	chr10:51947545-51947566

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:52002547-52002597	ECC-1	luminal epithelium:	n/a
2	chr10:51912805-51912855	HUVEC	blood vessel:	n/a
3	chr10:52002547-52002597	MCF10A-Er-Src	breast:	n/a
4	chr10:52002547-52002597	GM12891	blood:	n/a
5	chr10:52008905-52008955	HIPEpiC	eye:	n/a
6	chr10:52008593-52008643	GM06990	blood:	n/a
7	chr10:52008805-52008855	H1-hESC	embryonic stem cell:	embryo
8	chr10:51912805-51912855	SAEC	small airway:	n/a
9	chr10:52008805-52008855	AG09309	skin:	n/a
10	chr10:51912805-51912855	Hela-S3	cervix:	n/a
11	chr10:52008593-52008643	NHBE	bronchial:	n/a
12	chr10:52008360-52008410	HEK293	kidney:	embryo
13	chr10:52008805-52008855	HRE	kidney:	n/a
14	chr10:52002547-52002597	HepG2	liver:	n/a
15	chr10:52008360-52008410	PrEC	prostate:	n/a
16	chr10:52008905-52008955	T-47D	breast:	n/a
17	chr10:52008593-52008643	HRE	kidney:	n/a
18	chr10:52008593-52008643	Hela-S3	cervix:	n/a
19	chr10:51912805-51912855	U87	brain:	n/a
20	chr10:52008905-52008955	GM19239	blood:	n/a
21	chr10:52008905-52008955	NHDF-neo	bronchial:	n/a
22	chr10:52008805-52008855	NHDF-neo	bronchial:	n/a
23	chr10:52008905-52008955	HNPCEpiC	eye:	n/a
24	chr10:52008905-52008955	HEK293	kidney:	embryo
25	chr10:52008593-52008643	HAEpiC	amniotic membrane:	n/a
26	chr10:51912805-51912855	ProgFib	skin:	n/a
27	chr10:51912805-51912855	HCPEpiC	choroid plexus:	n/a
28	chr10:51912805-51912855	HAEpiC	amniotic membrane:	n/a
29	chr10:52002547-52002597	HIPEpiC	eye:	n/a
30	chr10:52002547-52002597	T-47D	breast:	n/a
31	chr10:52008805-52008855	NH-A	brain:	n/a
32	chr10:52008360-52008410	H1-hESC	embryonic stem cell:	embryo
33	chr10:52008905-52008955	SKMC	muscle:	n/a
34	chr10:52002547-52002597	ProgFib	skin:	n/a
35	chr10:52008905-52008955	AG04449	skin:	fetal
36	chr10:52002547-52002597	HCPEpiC	choroid plexus:	n/a
37	chr10:52008905-52008955	AG04450	lung:	fetal
38	chr10:52008360-52008410	AG04450	lung:	fetal
39	chr10:52008360-52008410	NT2-D1	testis:	n/a
40	chr10:52008805-52008855	GM12891	blood:	n/a
41	chr10:52008360-52008410	HCT-116	colon:	n/a
42	chr10:52008593-52008643	GM12878	blood:	n/a
43	chr10:52008593-52008643	HEEpiC	esophagus:	n/a
44	chr10:52008593-52008643	K562	blood:	n/a
45	chr10:52008360-52008410	NHBE	bronchial:	n/a
46	chr10:52008905-52008955	AG10803	skin:	n/a
47	chr10:51912805-51912855	ECC-1	luminal epithelium:	n/a
48	chr10:52008905-52008955	A549	lung:	n/a
49	chr10:52002547-52002597	IMR90	lung:	fetal
50	chr10:52008360-52008410	LNCaP	prostate:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:52009441..52011844-chr10:52036005..52038580,2	K562	blood:
2	chr10:52001284..52004039-chr10:52006500..52009846,3	K562	blood:

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

Extended variants
information (count: 427 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2813267	chr10:51912781-51912782	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs527704853	chr10:51912799-51912800	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs547831987	chr10:51912806-51912807	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs570862211	chr10:51912839-51912840	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs540021628	chr10:51912895-51912896	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs550149056	chr10:51912929-51912930	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs112620061	chr10:51912958-51912959	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs112475578	chr10:51912961-51912962	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs2813266	chr10:51912962-51912963	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs565825163	chr10:51977113-51977114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528271367	chr10:51977138-51977139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190977506	chr10:51977148-51977149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571245039	chr10:51977238-51977239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs56229290	chr10:51977292-51977293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537032186	chr10:51977367-51977368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556964336	chr10:51977375-51977376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567572239	chr10:51977557-51977558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536715889	chr10:51977806-51977807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182817759	chr10:51977826-51977827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145627131	chr10:51977891-51977892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553201514	chr10:51977964-51977965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188906693	chr10:51978081-51978082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545664569	chr10:51978122-51978123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559284487	chr10:51978177-51978178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576044126	chr10:51978314-51978315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543424218	chr10:51978393-51978394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547681820	chr10:52000006-52000007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200608523	chr10:52000164-52000165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201940528	chr10:52000233-52000234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570850351	chr10:52000259-52000260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538232812	chr10:52000279-52000280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558158802	chr10:52000280-52000281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568859058	chr10:52000281-52000282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537511977	chr10:52000533-52000534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7902744	chr10:52000536-52000537	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs574502641	chr10:52000592-52000593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540470573	chr10:52000813-52000814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73320289	chr10:52000840-52000841	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs141568509	chr10:52000907-52000908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546139216	chr10:52000919-52000920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150912922	chr10:52000968-52000969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs66941844	chr10:52000999-52001000	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs541911774	chr10:52001019-52001020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562256623	chr10:52001026-52001027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527872473	chr10:52001075-52001076	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs190475293	chr10:52001080-52001081	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs139482707	chr10:52001096-52001097	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs182255923	chr10:52001129-52001130	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs144209627	chr10:52001155-52001156	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs568721286	chr10:52001221-52001222	Weak transcription	TF binding region	1 gene(s)	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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:51912600-51913000	Active TSS	Brain Germinal Matrix	brain
2	chr10:51977000-51977600	Enhancers	HepG2	liver
3	chr10:51977600-51978000	Weak transcription	HepG2	liver
4	chr10:51978000-51978400	Enhancers	HepG2	liver
5	chr10:52000000-52002000	Weak transcription	Fetal Intestine Small	intestine
6	chr10:52000000-52003000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr10:52002000-52002200	Strong transcription	Fetal Intestine Small	intestine
8	chr10:52002200-52002400	Bivalent Enhancer	K562	blood
9	chr10:52002200-52002800	Weak transcription	Fetal Intestine Small	intestine
10	chr10:52002400-52003800	Enhancers	K562	blood
11	chr10:52002800-52003000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr10:52002800-52003000	Bivalent Enhancer	A549	lung
13	chr10:52002800-52003800	Strong transcription	Fetal Intestine Small	intestine
14	chr10:52003000-52003200	Enhancers	Duodenum Mucosa	Duodenum
15	chr10:52003000-52005200	Enhancers	Fetal Intestine Large	intestine
16	chr10:52003200-52003600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr10:52003600-52004400	Enhancers	Duodenum Mucosa	Duodenum
18	chr10:52003800-52004200	Bivalent Enhancer	K562	blood
19	chr10:52003800-52005200	Genic enhancers	Fetal Intestine Small	intestine
20	chr10:52003800-52005200	Enhancers	Small Intestine	intestine
21	chr10:52004000-52004600	Enhancers	HepG2	liver
22	chr10:52004400-52006600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr10:52004600-52007400	Weak transcription	HepG2	liver
24	chr10:52005200-52006400	Weak transcription	Fetal Intestine Small	intestine
25	chr10:52005200-52007200	Weak transcription	Fetal Intestine Large	intestine
26	chr10:52005200-52007600	Weak transcription	Small Intestine	intestine
27	chr10:52006400-52006600	Enhancers	Fetal Intestine Small	intestine
28	chr10:52006600-52007000	Weak transcription	Fetal Intestine Small	intestine
29	chr10:52006600-52007600	Enhancers	Duodenum Mucosa	Duodenum
30	chr10:52007000-52008800	Enhancers	Fetal Intestine Small	intestine
31	chr10:52007200-52009600	Enhancers	Fetal Intestine Large	intestine
32	chr10:52007400-52010000	Enhancers	HepG2	liver
33	chr10:52007400-52010200	Enhancers	Liver	Liver
34	chr10:52007600-52007800	Enhancers	Small Intestine	intestine
35	chr10:52007600-52009000	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr10:52007800-52008200	Enhancers	Stomach Mucosa	stomach
37	chr10:52008600-52009000	Bivalent Enhancer	Small Intestine	intestine
38	chr10:52008800-52009000	Flanking Active TSS	Fetal Intestine Small	intestine
39	chr10:52009000-52009400	Enhancers	Fetal Intestine Small	intestine
40	chr10:52009000-52010000	Enhancers	Duodenum Mucosa	Duodenum
41	chr10:52009400-52010200	Flanking Active TSS	Fetal Intestine Small	intestine
42	chr10:52009600-52010000	Flanking Active TSS	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links