Variant report

Variant	nsv878673
Chromosome Location	chr4:9794724-9834107
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	ATF2	chr4:9809744-9810072	GM12878	blood:	n/a	n/a
2	ATF2	chr4:9814641-9815054	GM12878	blood:	n/a	n/a
3	BACH1	chr4:9806067-9806321	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr4:9809777-9810086	GM12878	blood:	n/a	n/a
5	BATF	chr4:9813621-9813815	GM12878	blood:	n/a	n/a
6	BATF	chr4:9814682-9815071	GM12878	blood:	n/a	n/a
7	BATF	chr4:9814742-9814999	GM12878	blood:	n/a	n/a
8	BCL11A	chr4:9814677-9815008	GM12878	blood:	n/a	n/a
9	BCL11A	chr4:9814557-9814998	GM12878	blood:	n/a	n/a
10	BCL11A	chr4:9809742-9810117	GM12878	blood:	n/a	n/a
11	BCL11A	chr4:9809752-9810069	GM12878	blood:	n/a	n/a
12	BCL3	chr4:9826836-9827129	GM12878	blood:	n/a	n/a
13	BHLHE40	chr4:9814583-9815072	GM12878	blood:	n/a	n/a
14	BHLHE40	chr4:9809308-9809346	GM12878	blood:	n/a	n/a
15	BHLHE40	chr4:9809778-9810107	GM12878	blood:	n/a	n/a
16	BHLHE40	chr4:9802635-9802910	GM12878	blood:	n/a	n/a
17	BRCA1	chr4:9829608-9829617	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr4:9809751-9810119	GM12878	blood:	n/a	n/a
19	CTCF	chr4:9806600-9806750	GM12874	blood:	n/a	chr4:9806676-9806694 chr4:9806677-9806693
20	CTCF	chr4:9806660-9806810	GM12874	blood:	n/a	chr4:9806676-9806694 chr4:9806677-9806693
21	CTCF	chr4:9806600-9806750	K562	blood:	n/a	chr4:9806676-9806694 chr4:9806677-9806693
22	CTCF	chr4:9806620-9806770	SAEC	small airway:	n/a	chr4:9806676-9806694 chr4:9806677-9806693
23	CTCF	chr4:9803946-9804105	K562	blood:	n/a	chr4:9804000-9804013
24	CTCF	chr4:9803920-9804070	HCT-116	colon:	n/a	chr4:9804000-9804013
25	CTCF	chr4:9803960-9804110	Caco-2	colon:	n/a	chr4:9804000-9804013
26	CTCF	chr4:9806646-9806757	MCF-7	breast:	n/a	chr4:9806676-9806694 chr4:9806677-9806693
27	CTCF	chr4:9803986-9804111	LNCaP	prostate:	n/a	chr4:9804000-9804013
28	CTCF	chr4:9806608-9806837	GM12878	blood:	n/a	chr4:9806676-9806694 chr4:9806677-9806693
29	CTCF	chr4:9803900-9804105	H1-hESC	embryonic stem cell:	n/a	chr4:9804000-9804013
30	CTCF	chr4:9806673-9806676	NHEK	skin:	n/a	n/a
31	CTCF	chr4:9803940-9804090	K562	blood:	n/a	chr4:9804000-9804013
32	CTCF	chr4:9805300-9805450	HPF	lung:	n/a	n/a
33	CTCF	chr4:9803983-9804080	H1-hESC	embryonic stem cell:	n/a	chr4:9804000-9804013
34	CTCF	chr4:9806627-9806804	Fibrobl	skin:	n/a	chr4:9806676-9806694 chr4:9806677-9806693
35	CTCF	chr4:9803840-9804173	K562	blood:	n/a	chr4:9804000-9804013
36	CTCF	chr4:9819509-9819532	Fibrobl	skin:	n/a	n/a
37	CTCF	chr4:9806680-9806830	HCPEpiC	choroid plexus:	n/a	n/a
38	CTCF	chr4:9806687-9806751	K562	blood:	n/a	n/a
39	CTCF	chr4:9806660-9806810	GM06990	blood:	n/a	chr4:9806676-9806694 chr4:9806677-9806693
40	CTCF	chr4:9806620-9806770	GM12878	blood:	n/a	chr4:9806676-9806694 chr4:9806677-9806693
41	CTCF	chr4:9808801-9808905	Fibrobl	skin:	n/a	n/a
42	CTCF	chr4:9806678-9806725	NHEK	skin:	n/a	n/a
43	CTCF	chr4:9803980-9804130	HCT-116	colon:	n/a	chr4:9804000-9804013
44	CTCF	chr4:9819520-9819670	GM12871	blood:	n/a	n/a
45	CTCF	chr4:9806700-9806850	GM12878	blood:	n/a	n/a
46	CTCF	chr4:9806645-9806756	H1-hESC	embryonic stem cell:	n/a	chr4:9806676-9806694 chr4:9806677-9806693
47	CTCF	chr4:9804003-9804020	HepG2	liver:	n/a	n/a
48	CTCF	chr4:9806700-9806717	MCF-7	breast:	n/a	n/a
49	CTCF	chr4:9794956-9795000	A549	lung:	n/a	n/a
50	CTCF	chr4:9803996-9804037	MCF-7	breast:	n/a	chr4:9804000-9804013

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:9827283..9829135-chr4:9829200..9831465,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DRD5-13	chr4:9810799-9811038	NONHSAT095145
2	lnc-DRD5-13	chr4:9814207-9814604	NONHSAT095145
3	lnc-DRD5-13	chr4:9807330-9807762	NONHSAT095145

Variant related genes	Relation type
RNA5SP154	TF binding region
SLC2A9	TF binding region
ENSG00000109667	chromatin interactions

Extended variants
information (count: 1752 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1752 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7685396	chr4:9794724-9794725	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564940640	chr4:9794759-9794760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532627504	chr4:9794788-9794789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547676901	chr4:9794794-9794795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs202134469	chr4:9794795-9794796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34912592	chr4:9794820-9794821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112588786	chr4:9794834-9794835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181755864	chr4:9794844-9794845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377581549	chr4:9794850-9794851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529657405	chr4:9794851-9794852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112461812	chr4:9794862-9794863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs36064656	chr4:9794880-9794881	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs185677474	chr4:9794900-9794901	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs190188051	chr4:9794912-9794913	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs377636874	chr4:9794930-9794931	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs371419399	chr4:9794948-9794949	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs563219259	chr4:9794979-9794980	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs182412633	chr4:9795069-9795070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537150416	chr4:9795073-9795074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371884832	chr4:9795078-9795079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570450813	chr4:9795102-9795103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534650559	chr4:9795112-9795113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184818218	chr4:9795128-9795129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553281533	chr4:9795139-9795140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144833351	chr4:9795151-9795152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375526781	chr4:9795174-9795175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535261477	chr4:9795179-9795180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185404957	chr4:9795203-9795204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576413056	chr4:9795298-9795299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543907725	chr4:9795314-9795315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368534990	chr4:9795329-9795330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530652659	chr4:9795425-9795426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565079679	chr4:9795439-9795440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs62293244	chr4:9795480-9795481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35928293	chr4:9795500-9795501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576825105	chr4:9795510-9795511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190879316	chr4:9795514-9795515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370446400	chr4:9795555-9795556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34375918	chr4:9795558-9795559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182831681	chr4:9795635-9795636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148594055	chr4:9795662-9795663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542032523	chr4:9795705-9795706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368835391	chr4:9795712-9795713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563924820	chr4:9795740-9795741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112577718	chr4:9795758-9795759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141828671	chr4:9795767-9795768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570609481	chr4:9795780-9795781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371025418	chr4:9795782-9795783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112500360	chr4:9795783-9795784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2867386	chr4:9795784-9795785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Neuroblastoma	20406844	CNVD
early-passage human iPS cells	21368824	CNVD
Sinonasal adenocarcinoma	21360264	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ependymoma	20639864	CNVD
Breast cancer	17142309	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Glioma	20126413	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Obesity	21131291	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:9794400-9798000	Weak transcription	HMEC	breast
2	chr4:9794600-9805800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr4:9794600-9812600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:9797200-9806400	Weak transcription	HepG2	liver
5	chr4:9798200-9799200	Enhancers	HMEC	breast
6	chr4:9798800-9815000	Weak transcription	Lung	lung
7	chr4:9799200-9802000	Weak transcription	Liver	Liver
8	chr4:9799200-9819600	Weak transcription	HMEC	breast
9	chr4:9802400-9803400	Enhancers	Thymus	Thymus
10	chr4:9802600-9803800	Enhancers	Fetal Thymus	thymus
11	chr4:9803200-9803800	Enhancers	Fetal Muscle Trunk	muscle
12	chr4:9803200-9803800	Enhancers	Fetal Muscle Leg	muscle
13	chr4:9804600-9808800	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr4:9805800-9807000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr4:9806000-9806800	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr4:9806000-9807000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:9806200-9806600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:9806200-9806800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:9806200-9807000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:9806200-9821200	Weak transcription	Fetal Intestine Small	intestine
21	chr4:9806400-9807200	Enhancers	Placenta	Placenta
22	chr4:9806400-9807400	Strong transcription	HepG2	liver
23	chr4:9806600-9807000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:9806800-9807000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:9807000-9808800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr4:9807000-9809400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:9807000-9810400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr4:9807000-9819800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:9807200-9807600	Weak transcription	Placenta	Placenta
30	chr4:9807400-9808600	Weak transcription	HepG2	liver
31	chr4:9807600-9808200	Enhancers	Placenta	Placenta
32	chr4:9808200-9809600	ZNF genes & repeats	Placenta	Placenta
33	chr4:9808200-9832000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr4:9808400-9809400	Enhancers	Fetal Stomach	stomach
35	chr4:9808600-9813400	Strong transcription	HepG2	liver
36	chr4:9808800-9810800	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr4:9808800-9813200	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr4:9808800-9834400	Weak transcription	NHEK	skin
39	chr4:9809400-9810000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr4:9809600-9810000	Enhancers	Fetal Muscle Trunk	muscle
41	chr4:9809600-9810000	Enhancers	Placenta	Placenta
42	chr4:9809600-9810400	Enhancers	Fetal Muscle Leg	muscle
43	chr4:9810000-9830600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr4:9810400-9811000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr4:9810800-9811600	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr4:9811000-9827000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr4:9811600-9813000	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr4:9812600-9813600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr4:9813000-9813800	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr4:9813000-9814600	Enhancers	Primary neutrophils fromperipheralblood	blood

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