Variant report

Variant	nsv595691
Chromosome Location	chr4:151850524-151883290
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:151865757..151867781-chr4:151869547..151872879,3	K562	blood:
2	chr4:151863391..151865111-chr4:151934001..151936984,2	K562	blood:
3	chr4:151856044..151857786-chr4:151866410..151868032,2	MCF-7	breast:
4	chr4:151877350..151879470-chr4:151882177..151883692,2	K562	blood:
5	chr4:151858340..151860343-chr4:151871989..151873498,2	K562	blood:
6	chr4:151881996..151883643-chr4:151936470..151938067,2	MCF-7	breast:
7	chr4:151855396..151857375-chr4:151872035..151874195,2	K562	blood:
8	chr4:151877350..151879470-chr4:151882177..151883692,2	K562	blood:
9	chr4:151870335..151873445-chr4:152019879..152022004,3	K562	blood:
10	chr4:151881135..151883794-chr4:151886997..151888968,2	MCF-7	breast:
11	chr4:151865757..151867781-chr4:151869547..151872879,3	K562	blood:
12	chr4:151858185..151860880-chr4:151862516..151865242,2	K562	blood:
13	chr1:174358031..174358668-chr4:151874262..151874762,2	MCF-7	breast:
14	chr4:151856044..151857786-chr4:151866410..151868032,2	MCF-7	breast:
15	chr4:151866579..151869157-chr4:152019961..152022233,2	K562	blood:
16	chr4:151863391..151864945-chr4:151935370..151936984,2	K562	blood:
17	chr4:151853140..151855693-chr4:151862227..151864085,2	MCF-7	breast:
18	chr4:151855396..151857375-chr4:151872035..151874195,2	K562	blood:
19	chr4:151853140..151855693-chr4:151862227..151864085,2	MCF-7	breast:
20	chr4:151858185..151860880-chr4:151862516..151865242,2	K562	blood:
21	chr4:151872979..151875947-chr4:151936623..151938393,3	MCF-7	breast:
22	chr4:151858340..151860343-chr4:151871989..151873498,2	K562	blood:
23	chr4:151845043..151847857-chr4:151848040..151850995,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000198589	chromatin interactions
ENSG00000145425	chromatin interactions

Extended variants
information (count: 1132 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:1132 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2407548	chr4:151850524-151850525	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs527262225	chr4:151850612-151850613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs958516	chr4:151850646-151850647	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs544620047	chr4:151850755-151850756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564444716	chr4:151850768-151850769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190856949	chr4:151850822-151850823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546557010	chr4:151850845-151850846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571164091	chr4:151850868-151850869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538115272	chr4:151850891-151850892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142267290	chr4:151850895-151850896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371994796	chr4:151850897-151850898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529069314	chr4:151850920-151850921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556731781	chr4:151850949-151850950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568532368	chr4:151851029-151851030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548730519	chr4:151851080-151851081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182527948	chr4:151851081-151851082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568615966	chr4:151851092-151851093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535971364	chr4:151851135-151851136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531280531	chr4:151851171-151851172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10010882	chr4:151851174-151851175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79899377	chr4:151851183-151851184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373231286	chr4:151851190-151851191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571138603	chr4:151851192-151851193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113672192	chr4:151851193-151851194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540152877	chr4:151851241-151851242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553384025	chr4:151851296-151851297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111282316	chr4:151851334-151851335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535681017	chr4:151851343-151851344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555949288	chr4:151851346-151851347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575828150	chr4:151851380-151851381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544681709	chr4:151851393-151851394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs33957217	chr4:151851466-151851467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76136399	chr4:151851468-151851469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs397800618	chr4:151851478-151851479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375097272	chr4:151851491-151851492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146189436	chr4:151851509-151851510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71618357	chr4:151851553-151851554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370377714	chr4:151851597-151851598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138982453	chr4:151851628-151851629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572144858	chr4:151851644-151851645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540561324	chr4:151851654-151851655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560197845	chr4:151851686-151851687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545792731	chr4:151851703-151851704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542438634	chr4:151851752-151851753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370126018	chr4:151851763-151851764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540289123	chr4:151851821-151851822	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs562309941	chr4:151851825-151851826	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs531342103	chr4:151851838-151851839	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs376270244	chr4:151851839-151851840	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs551037433	chr4:151851841-151851842	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	17588203	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:493 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151796200-151872000	Weak transcription	Psoas Muscle	Psoas
2	chr4:151796400-151855000	Weak transcription	Gastric	stomach
3	chr4:151796400-151886600	Weak transcription	Pancreas	Pancrea
4	chr4:151796800-151851000	Weak transcription	Lung	lung
5	chr4:151806800-151851600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:151806800-151860400	Weak transcription	Colon Smooth Muscle	Colon
7	chr4:151811800-151852800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr4:151812000-151857800	Weak transcription	NH-A	brain
9	chr4:151821400-151850800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr4:151824800-151851200	Weak transcription	Esophagus	oesophagus
11	chr4:151825200-151850800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr4:151828600-151850600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr4:151833600-151850600	Weak transcription	Fetal Muscle Leg	muscle
14	chr4:151834000-151851200	Weak transcription	Ovary	ovary
15	chr4:151834600-151850600	Weak transcription	Fetal Stomach	stomach
16	chr4:151834600-151854800	Weak transcription	Left Ventricle	heart
17	chr4:151835400-151851000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr4:151835800-151859000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:151836000-151855000	Weak transcription	HSMM	muscle
20	chr4:151836000-151863400	Weak transcription	NHEK	skin
21	chr4:151836000-151865000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:151836200-151858000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr4:151836200-151859800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr4:151836400-151850800	Weak transcription	Placenta	Placenta
25	chr4:151836400-151859600	Weak transcription	HMEC	breast
26	chr4:151836600-151855000	Weak transcription	Brain Anterior Caudate	brain
27	chr4:151836600-151860200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr4:151837000-151859400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr4:151837800-151853000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr4:151837800-151860200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr4:151838400-151852600	Weak transcription	Spleen	Spleen
32	chr4:151840400-151860400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr4:151841200-151851800	Weak transcription	GM12878-XiMat	blood
34	chr4:151841400-151855000	Weak transcription	Stomach Mucosa	stomach
35	chr4:151842200-151860200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr4:151842600-151851600	Weak transcription	Adipose Nuclei	Adipose
37	chr4:151845000-151851800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr4:151845800-151851600	Weak transcription	HepG2	liver
39	chr4:151845800-151854400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr4:151846000-151857800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr4:151846200-151858200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr4:151846200-151860400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr4:151846400-151851800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr4:151846400-151859000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:151846400-151859600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr4:151846400-151859800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr4:151846400-151866800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr4:151846400-151873800	Weak transcription	Fetal Intestine Small	intestine
49	chr4:151846600-151859400	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr4:151846600-151859800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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