Variant report

Variant	nsv897460
Chromosome Location	chr11:48939960-48987539
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:582)
CpG islands
(count:183)
Chromatin interactive
region (count:1)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:582 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr11:48940082-48940286	K562	blood:	n/a	n/a
2	BACH1	chr11:48961635-48962346	K562	blood:	n/a	n/a
3	BACH1	chr11:48956270-48956471	K562	blood:	n/a	n/a
4	BATF	chr11:48953209-48953631	GM12878	blood:	n/a	n/a
5	BATF	chr11:48985042-48985405	GM12878	blood:	n/a	n/a
6	BATF	chr11:48943793-48944288	GM12878	blood:	n/a	n/a
7	BATF	chr11:48985116-48985352	GM12878	blood:	n/a	n/a
8	BATF	chr11:48953227-48953611	GM12878	blood:	n/a	n/a
9	BATF	chr11:48976068-48976336	GM12878	blood:	n/a	n/a
10	BATF	chr11:48945095-48945310	GM12878	blood:	n/a	n/a
11	BATF	chr11:48945011-48945390	GM12878	blood:	n/a	n/a
12	BATF	chr11:48940420-48940720	GM12878	blood:	n/a	n/a
13	BATF	chr11:48955305-48955628	GM12878	blood:	n/a	n/a
14	BATF	chr11:48946385-48946719	GM12878	blood:	n/a	n/a
15	BATF	chr11:48946780-48947152	GM12878	blood:	n/a	n/a
16	BATF	chr11:48976038-48976262	GM12878	blood:	n/a	n/a
17	BCL11A	chr11:48945083-48945411	GM12878	blood:	n/a	n/a
18	BCL11A	chr11:48976050-48976264	GM12878	blood:	n/a	n/a
19	BCL11A	chr11:48946416-48947156	GM12878	blood:	n/a	n/a
20	BCL11A	chr11:48943783-48944180	GM12878	blood:	n/a	n/a
21	BCL11A	chr11:48953316-48953636	GM12878	blood:	n/a	n/a
22	BCL11A	chr11:48945083-48945369	GM12878	blood:	n/a	n/a
23	BCL11A	chr11:48955311-48955544	GM12878	blood:	n/a	n/a
24	BCL11A	chr11:48953233-48953595	GM12878	blood:	n/a	n/a
25	BCL11A	chr11:48955295-48955655	GM12878	blood:	n/a	n/a
26	BHLHE40	chr11:48958418-48958674	HepG2	liver:	n/a	n/a
27	BHLHE40	chr11:48953193-48953630	HepG2	liver:	n/a	n/a
28	BHLHE40	chr11:48948266-48948511	HepG2	liver:	n/a	n/a
29	BRCA1	chr11:48942120-48942457	GM12878	blood:	n/a	n/a
30	BRCA1	chr11:48956269-48956471	GM12878	blood:	n/a	n/a
31	BRCA1	chr11:48956098-48956483	Hela-S3	cervix:	n/a	n/a
32	BRCA1	chr11:48960588-48960655	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr11:48956269-48956469	K562	blood:	n/a	n/a
34	CEBPB	chr11:48960415-48960521	K562	blood:	n/a	n/a
35	CEBPD	chr11:48953317-48953723	K562	blood:	n/a	n/a
36	CHD1	chr11:48953549-48953581	GM12878	blood:	n/a	n/a
37	CHD2	chr11:48959212-48959412	K562	blood:	n/a	n/a
38	CHD2	chr11:48958911-48958925	GM12878	blood:	n/a	n/a
39	CHD2	chr11:48956269-48956470	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr11:48946801-48947146	K562	blood:	n/a	n/a
41	CTCF	chr11:48973716-48973764	Pancreas_OC	pancreas:	n/a	n/a
42	CTCF	chr11:48946379-48946690	K562	blood:	n/a	n/a
43	CTCF	chr11:48961499-48961663	K562	blood:	n/a	n/a
44	CTCF	chr11:48966763-48966883	LNCaP	prostate:	n/a	n/a
45	CTCF	chr11:48940508-48940695	K562	blood:	n/a	n/a
46	CTCF	chr11:48982255-48982371	GM10266	blood:	n/a	n/a
47	CTCF	chr11:48974337-48974362	GM10266	blood:	n/a	n/a
48	CTCF	chr11:48983139-48983172	GM13976	blood:	n/a	n/a
49	CTCF	chr11:48943841-48944139	K562	blood:	n/a	n/a
50	CTCF	chr11:48966784-48966963	LNCaP	prostate:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:48977834-48977884	HAEpiC	amniotic membrane:	n/a
2	chr11:48987265-48987315	ProgFib	skin:	n/a
3	chr11:48977834-48977884	HCPEpiC	choroid plexus:	n/a
4	chr11:48987265-48987315	HRPEpiC	eye:	n/a
5	chr11:48977834-48977884	SAEC	small airway:	n/a
6	chr11:48977527-48977577	AG09319	gingival:	n/a
7	chr11:48987265-48987315	HCF	heart:	n/a
8	chr11:48987265-48987315	GM19239	blood:	n/a
9	chr11:48977834-48977884	AG09309	skin:	n/a
10	chr11:48987265-48987315	A549	lung:	n/a
11	chr11:48977834-48977884	GM19239	blood:	n/a
12	chr11:48977527-48977577	NH-A	brain:	n/a
13	chr11:48977527-48977577	MCF-7	breast:	n/a
14	chr11:48977527-48977577	GM19239	blood:	n/a
15	chr11:48987265-48987315	CMK	blood:	n/a
16	chr11:48987265-48987315	HUVEC	blood vessel:	n/a
17	chr11:48977834-48977884	HNPCEpiC	eye:	n/a
18	chr11:48977527-48977577	HMEC	breast:	n/a
19	chr11:48987265-48987315	NHBE	bronchial:	n/a
20	chr11:48977527-48977577	HRE	kidney:	n/a
21	chr11:48977834-48977884	HPAEpiC	pulmonary alveolar:	n/a
22	chr11:48987265-48987315	Hepatocyte	liver:	n/a
23	chr11:48977527-48977577	NHDF-neo	bronchial:	n/a
24	chr11:48977834-48977884	U87	brain:	n/a
25	chr11:48977527-48977577	HPAEpiC	pulmonary alveolar:	n/a
26	chr11:48987265-48987315	GM12878	blood:	n/a
27	chr11:48977527-48977577	SK-N-SH_RA	brain:	n/a
28	chr11:48987265-48987315	AG04449	skin:	fetal
29	chr11:48977834-48977884	AoSMC	blood vessel:	n/a
30	chr11:48987265-48987315	AG09309	skin:	n/a
31	chr11:48977527-48977577	HAEpiC	amniotic membrane:	n/a
32	chr11:48987265-48987315	ECC-1	luminal epithelium:	n/a
33	chr11:48977834-48977884	T-47D	breast:	n/a
34	chr11:48977527-48977577	Caco-2	colon:	n/a
35	chr11:48977527-48977577	AG04449	skin:	fetal
36	chr11:48977527-48977577	Hepatocyte	liver:	n/a
37	chr11:48977527-48977577	BE2_C	brain:	n/a
38	chr11:48977834-48977884	CMK	blood:	n/a
39	chr11:48977527-48977577	GM12878	blood:	n/a
40	chr11:48977834-48977884	ovcar-3	ovarian:	n/a
41	chr11:48977527-48977577	HIPEpiC	eye:	n/a
42	chr11:48977527-48977577	PFSK-1	brain:	n/a
43	chr11:48977527-48977577	AG04450	lung:	fetal
44	chr11:48987265-48987315	MCF-7	breast:	n/a
45	chr11:48987265-48987315	AG04450	lung:	fetal
46	chr11:48977527-48977577	HCT-116	colon:	n/a
47	chr11:48977527-48977577	HCF	heart:	n/a
48	chr11:48977527-48977577	IMR90	lung:	fetal
49	chr11:48977527-48977577	BJ	skin:	n/a
50	chr11:48977527-48977577	ECC-1	luminal epithelium:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:121484902..121485419-chr11:48946286..48946806,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC084851.1-2	chr11:48982485-48982577	NONHSAT021303
2	lnc-AC084851.1-2	chr11:48981480-48981636	NONHSAT021303
3	lnc-AC084851.1-2	chr11:48981775-48981855	NONHSAT021303
4	lnc-AC084851.1-2	chr11:48983254-48983362	NONHSAT021303

No data

Variant related genes	Relation type
TRIM51CP	TF binding region
ENSG00000254517	TF binding region
TRIM51CP	CpG island
ENSG00000254517	CpG island

Extended variants
information (count: 3133 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:3133 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111688298	chr11:48939960-48939961	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577579841	chr11:48939970-48939971	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545794153	chr11:48939975-48939976	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201096100	chr11:48940033-48940034	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377491844	chr11:48940036-48940037	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184019439	chr11:48940045-48940046	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576135796	chr11:48940046-48940047	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541554489	chr11:48940049-48940050	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190197989	chr11:48940059-48940060	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11517696	chr11:48940073-48940074	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs148177948	chr11:48940077-48940078	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs36162981	chr11:48940087-48940088	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564053477	chr11:48940098-48940099	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370776553	chr11:48940157-48940158	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533036317	chr11:48940162-48940163	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11517697	chr11:48940164-48940165	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112641135	chr11:48940172-48940173	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113858726	chr11:48940177-48940178	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528736847	chr11:48940183-48940184	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199710826	chr11:48940193-48940194	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111493008	chr11:48940201-48940202	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200594292	chr11:48940207-48940208	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559120732	chr11:48940217-48940218	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201057791	chr11:48940226-48940227	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112534546	chr11:48940241-48940242	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199535872	chr11:48940257-48940258	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149778650	chr11:48940264-48940265	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111375823	chr11:48940267-48940268	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146607692	chr11:48940277-48940278	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200654612	chr11:48940290-48940291	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147815543	chr11:48940294-48940295	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538376770	chr11:48940295-48940296	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181910871	chr11:48940301-48940302	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568539925	chr11:48940313-48940314	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145084868	chr11:48940317-48940318	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554368792	chr11:48940319-48940320	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577470519	chr11:48940341-48940342	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539743668	chr11:48940350-48940351	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558447425	chr11:48940378-48940379	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556167229	chr11:48940390-48940391	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575935682	chr11:48940392-48940393	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12360694	chr11:48940420-48940421	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144117134	chr11:48940425-48940426	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74731332	chr11:48940430-48940431	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78340646	chr11:48940433-48940434	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561465856	chr11:48940437-48940438	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375623256	chr11:48940441-48940442	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376200261	chr11:48940448-48940449	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571772091	chr11:48940453-48940454	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75295086	chr11:48940460-48940461	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

Disease	PMID	Source
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Breast cancer	21990379	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	17426248	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48935200-48947600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr11:48935600-48943800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:48935800-48942400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
4	chr11:48936400-48949200	Weak transcription	K562	blood
5	chr11:48936600-48940600	Weak transcription	NH-A	brain
6	chr11:48938000-48949200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr11:48940000-48940400	Active TSS	Small Intestine	intestine
8	chr11:48943200-48944000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr11:48947600-48948400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:48947600-48948400	ZNF genes & repeats	HUVEC	blood vessel
11	chr11:48949000-48949200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr11:48953000-48954400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:48953000-48959800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
14	chr11:48953200-48959800	Weak transcription	K562	blood
15	chr11:48955000-48959000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
16	chr11:48955200-48955600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:48956200-48963400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
18	chr11:48956600-48964400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:48957400-48958800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:48957800-48958400	ZNF genes & repeats	HUVEC	blood vessel
21	chr11:48957800-48959000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:48958000-48958200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
23	chr11:48958000-48958400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
24	chr11:48958400-48959000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:48959000-48960200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:48959200-48959600	ZNF genes & repeats	HUVEC	blood vessel
27	chr11:48959400-48960400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
28	chr11:48961600-48962000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
29	chr11:48966800-48967600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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