Variant report

Variant	nsv885976
Chromosome Location	chr6:63330596-63496191
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	chr6:63485401-63485684	HepG2	liver:	n/a	n/a
2	BACH1	chr6:63343076-63343099	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr6:63476348-63476567	GM12878	blood:	n/a	n/a
4	CBX3	chr6:63362575-63362854	K562	blood:	n/a	n/a
5	CBX3	chr6:63362595-63362988	HCT-116	colon:	n/a	n/a
6	CBX3	chr6:63362679-63362919	K562	blood:	n/a	n/a
7	CEBPB	chr6:63377486-63377807	HepG2	liver:	n/a	chr6:63377653-63377664
8	CEBPB	chr6:63350553-63351067	A549	lung:	n/a	chr6:63350634-63350645
9	CEBPB	chr6:63476559-63476780	HepG2	liver:	n/a	chr6:63476688-63476699
10	CEBPB	chr6:63479626-63479944	HepG2	liver:	n/a	chr6:63479783-63479794
11	CEBPB	chr6:63486528-63486800	HepG2	liver:	n/a	n/a
12	CEBPB	chr6:63350334-63350675	HepG2	liver:	n/a	chr6:63350634-63350645 chr6:63350477-63350488 chr6:63350476-63350489
13	CEBPZ	chr6:63362626-63362905	HepG2	liver:	n/a	n/a
14	CHD1	chr6:63347777-63347984	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD2	chr6:63457023-63457040	GM12878	blood:	n/a	n/a
16	CTCF	chr6:63485480-63485630	HMF	breast:	n/a	chr6:63485525-63485541 chr6:63485526-63485539 chr6:63485524-63485542 chr6:63485519-63485540 chr6:63485530-63485539
17	CTCF	chr6:63417236-63417319	MCF-7	breast:	n/a	n/a
18	CTCF	chr6:63485456-63485642	LNCaP	prostate:	n/a	chr6:63485525-63485541 chr6:63485526-63485539 chr6:63485524-63485542 chr6:63485519-63485540 chr6:63485530-63485539
19	CTCF	chr6:63485460-63485610	HRE	kidney:	n/a	chr6:63485525-63485541 chr6:63485526-63485539 chr6:63485524-63485542 chr6:63485519-63485540 chr6:63485530-63485539
20	CTCF	chr6:63485723-63485875	GM10248	blood:	n/a	n/a
21	CTCF	chr6:63485480-63485630	HRPEpiC	eye:	n/a	chr6:63485525-63485541 chr6:63485526-63485539 chr6:63485524-63485542 chr6:63485519-63485540 chr6:63485530-63485539
22	CTCF	chr6:63417080-63417230	GM12864	blood:	n/a	n/a
23	CTCF	chr6:63417100-63417250	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr6:63485462-63485605	HepG2	liver:	n/a	chr6:63485525-63485541 chr6:63485526-63485539 chr6:63485524-63485542 chr6:63485519-63485540 chr6:63485530-63485539
25	CTCF	chr6:63485480-63485630	GM12865	blood:	n/a	chr6:63485525-63485541 chr6:63485526-63485539 chr6:63485524-63485542 chr6:63485519-63485540 chr6:63485530-63485539
26	CTCF	chr6:63485413-63485595	A549	lung:	n/a	chr6:63485525-63485541 chr6:63485526-63485539 chr6:63485524-63485542 chr6:63485519-63485540 chr6:63485530-63485539
27	CTCF	chr6:63417180-63417330	NB4	blood:	n/a	n/a
28	CTCF	chr6:63485480-63485630	GM12869	blood:	n/a	chr6:63485525-63485541 chr6:63485526-63485539 chr6:63485524-63485542 chr6:63485519-63485540 chr6:63485530-63485539
29	CTCF	chr6:63485420-63485570	HCM	heart:	n/a	chr6:63485525-63485541 chr6:63485526-63485539 chr6:63485524-63485542 chr6:63485519-63485540 chr6:63485530-63485539
30	CTCF	chr6:63417200-63417350	HEK293	kidney:	n/a	n/a
31	CTCF	chr6:63485760-63485866	Medullo	brain:	n/a	n/a
32	CTCF	chr6:63485479-63485573	SK-N-SH_RA	brain:	n/a	chr6:63485525-63485541 chr6:63485526-63485539 chr6:63485524-63485542 chr6:63485519-63485540 chr6:63485530-63485539
33	CTCF	chr6:63485460-63485610	BJ	skin:	n/a	chr6:63485525-63485541 chr6:63485526-63485539 chr6:63485524-63485542 chr6:63485519-63485540 chr6:63485530-63485539
34	CTCF	chr6:63485400-63485550	GM12870	blood:	n/a	chr6:63485525-63485541 chr6:63485526-63485539 chr6:63485524-63485542 chr6:63485519-63485540 chr6:63485530-63485539
35	CTCF	chr6:63417220-63417370	HA-sp	spinal cord:	n/a	n/a
36	CTCF	chr6:63485380-63485530	K562	blood:	n/a	n/a
37	CTCF	chr6:63417080-63417230	GM12873	blood:	n/a	n/a
38	CTCF	chr6:63485510-63485561	MCF-7	breast:	n/a	chr6:63485525-63485541 chr6:63485526-63485539 chr6:63485524-63485542 chr6:63485519-63485540 chr6:63485530-63485539
39	CTCF	chr6:63417140-63417290	GM12864	blood:	n/a	n/a
40	CTCF	chr6:63485460-63485610	GM12873	blood:	n/a	chr6:63485525-63485541 chr6:63485526-63485539 chr6:63485524-63485542 chr6:63485519-63485540 chr6:63485530-63485539
41	CTCF	chr6:63417154-63417322	HepG2	liver:	n/a	n/a
42	CTCF	chr6:63485378-63485695	Medullo	brain:	n/a	chr6:63485525-63485541 chr6:63485526-63485539 chr6:63485524-63485542 chr6:63485519-63485540 chr6:63485530-63485539
43	CTCF	chr6:63485435-63485631	Hela-S3	cervix:	n/a	chr6:63485525-63485541 chr6:63485526-63485539 chr6:63485524-63485542 chr6:63485519-63485540 chr6:63485530-63485539
44	CTCF	chr6:63485460-63485610	HEEpiC	esophagus:	n/a	chr6:63485525-63485541 chr6:63485526-63485539 chr6:63485524-63485542 chr6:63485519-63485540 chr6:63485530-63485539
45	CTCF	chr6:63417202-63417320	GM19238	blood:	n/a	n/a
46	CTCF	chr6:63485446-63485653	GM10266	blood:	n/a	chr6:63485525-63485541 chr6:63485526-63485539 chr6:63485524-63485542 chr6:63485519-63485540 chr6:63485530-63485539
47	CTCF	chr6:63417200-63417350	GM12875	blood:	n/a	n/a
48	CTCF	chr6:63485500-63485650	HMEC	breast:	n/a	chr6:63485525-63485541 chr6:63485526-63485539 chr6:63485524-63485542 chr6:63485519-63485540 chr6:63485530-63485539
49	CTCF	chr6:63417120-63417270	GM12874	blood:	n/a	n/a
50	CTCF	chr6:63456960-63457110	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:63441335..63443879-chr6:63445998..63448155,2	K562	blood:
2	chr6:63381016..63382588-chr6:63383396..63385763,2	K562	blood:
3	chr6:63441335..63443879-chr6:63445998..63448155,2	K562	blood:
4	chr6:63381016..63382588-chr6:63383396..63385763,2	K562	blood:
5	chr22:19006105..19008372-chr6:63457723..63459244,2	K562	blood:
6	chr1:17229945..17231648-chr6:63349079..63350580,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264410	TF binding region
ENSG00000216072	TF binding region
ENSG00000272426	chromatin interactions
ENSG00000270393	chromatin interactions

Extended variants
information (count: 2923 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:2923 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2881268	chr6:63330596-63330597	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562528585	chr6:63330598-63330599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542514471	chr6:63330632-63330633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200381577	chr6:63330635-63330636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552839099	chr6:63330719-63330720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7749989	chr6:63330727-63330728	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs544924866	chr6:63330745-63330746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531448170	chr6:63330755-63330756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551040301	chr6:63330779-63330780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201791325	chr6:63330781-63330782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369411696	chr6:63330790-63330791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs72879753	chr6:63330803-63330804	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs6453614	chr6:63330876-63330877	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs573923325	chr6:63330879-63330880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546984730	chr6:63330880-63330881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534449553	chr6:63330912-63330913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549451107	chr6:63330953-63330954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs80044279	chr6:63330974-63330975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370219410	chr6:63331010-63331011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567832144	chr6:63331041-63331042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376419628	chr6:63331075-63331076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556738209	chr6:63331080-63331081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs117899435	chr6:63331082-63331083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568493964	chr6:63331124-63331125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140437529	chr6:63331135-63331136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567383008	chr6:63331204-63331205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368227587	chr6:63331235-63331236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150442310	chr6:63331249-63331250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561064705	chr6:63331257-63331258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115626340	chr6:63331366-63331367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543227227	chr6:63331407-63331408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535966872	chr6:63331408-63331409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs56034296	chr6:63331435-63331436	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs138387557	chr6:63331457-63331458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560489935	chr6:63331630-63331631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527719436	chr6:63331631-63331632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185295549	chr6:63331662-63331663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540004398	chr6:63331729-63331730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567834785	chr6:63331791-63331792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538545952	chr6:63331807-63331808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550062979	chr6:63331808-63331809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571507954	chr6:63331811-63331812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536437727	chr6:63331874-63331875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538341132	chr6:63331882-63331883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553489260	chr6:63331901-63331902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571693924	chr6:63331938-63331939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147194087	chr6:63331969-63331970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535899792	chr6:63332097-63332098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554574744	chr6:63332118-63332119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576224299	chr6:63332134-63332135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Schizophrenia	23813976	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:63327800-63338600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:63333200-63334400	Enhancers	Stomach Mucosa	stomach
3	chr6:63333600-63334000	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr6:63333600-63334400	Enhancers	Fetal Intestine Large	intestine
5	chr6:63334000-63334400	Enhancers	Fetal Intestine Small	intestine
6	chr6:63334000-63334400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr6:63334400-63334600	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr6:63334600-63336200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr6:63336200-63337000	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr6:63340400-63341200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr6:63340600-63340800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr6:63340600-63340800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr6:63340600-63341000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr6:63340600-63341200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr6:63340800-63341200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr6:63340800-63341800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr6:63340800-63341800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr6:63341000-63342000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr6:63341200-63341600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr6:63341200-63341600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr6:63341200-63341600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr6:63341600-63342200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr6:63341600-63342200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr6:63341600-63342600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr6:63341800-63342600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr6:63341800-63342800	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr6:63342000-63343000	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr6:63342600-63347600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr6:63342800-63347600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr6:63343000-63347400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr6:63347400-63348000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
32	chr6:63347600-63348000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr6:63347600-63348000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:63347600-63348000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
35	chr6:63347600-63348000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
36	chr6:63347600-63348000	Active TSS	Brain Substantia Nigra	brain
37	chr6:63347800-63348000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
38	chr6:63348000-63356800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:63357000-63357200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:63359000-63363600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr6:63361400-63363600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
42	chr6:63361600-63363200	ZNF genes & repeats	Liver	Liver
43	chr6:63361600-63363800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
44	chr6:63362000-63364200	ZNF genes & repeats	Adipose Nuclei	Adipose
45	chr6:63363000-63363600	Active TSS	Fetal Heart	heart
46	chr6:63372600-63373000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr6:63388000-63388400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr6:63416000-63416200	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr6:63423400-63425400	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr6:63423800-63424000	Enhancers	HUES48 Cell Line	embryonic stem cell

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