Variant report

Variant	nsv819040
Chromosome Location	chr4:147212242-147217906
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:147215452..147218404-chr4:147220056..147222242,2	K562	blood:
2	chr4:147209226..147212026-chr4:147214111..147217530,3	MCF-7	breast:
3	chr4:147204351..147205909-chr4:147214280..147217001,2	K562	blood:
4	chr4:147212311..147214185-chr4:147214535..147216108,2	K562	blood:
5	chr4:147207605..147209216-chr4:147213050..147215531,2	K562	blood:
6	chr4:147212311..147214185-chr4:147214535..147216108,2	K562	blood:

Extended variants
information (count: 189 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:189 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574928370	chr4:147212256-147212257	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs552256404	chr4:147212274-147212275	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs566299219	chr4:147212308-147212309	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs535195649	chr4:147212382-147212383	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs34255835	chr4:147212433-147212434	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs72728000	chr4:147212453-147212454	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs541819689	chr4:147212455-147212456	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs145271208	chr4:147212567-147212568	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs543138757	chr4:147212585-147212586	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs114270125	chr4:147212633-147212634	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs547302881	chr4:147212635-147212636	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs149137703	chr4:147212718-147212719	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs377405787	chr4:147212748-147212749	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs7691282	chr4:147212755-147212756	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs576783540	chr4:147212759-147212760	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs58203372	chr4:147212775-147212776	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs192333087	chr4:147212785-147212786	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs572988647	chr4:147212800-147212801	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs540858467	chr4:147212803-147212804	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs185566131	chr4:147212833-147212834	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs79029568	chr4:147212855-147212856	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs531512444	chr4:147212861-147212862	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs563141304	chr4:147212874-147212875	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs143216212	chr4:147212904-147212905	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs552317133	chr4:147212959-147212960	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs565813962	chr4:147213041-147213042	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs138814365	chr4:147213059-147213060	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs187748744	chr4:147213070-147213071	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs564771953	chr4:147213187-147213188	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs537351758	chr4:147213192-147213193	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs370014255	chr4:147213221-147213222	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78191201	chr4:147213234-147213235	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192373789	chr4:147213248-147213249	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552930861	chr4:147213271-147213272	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145576853	chr4:147213287-147213288	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138005984	chr4:147213324-147213325	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184609176	chr4:147213351-147213352	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574528689	chr4:147213367-147213368	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543374431	chr4:147213429-147213430	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563565316	chr4:147213441-147213442	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577195153	chr4:147213444-147213445	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142589257	chr4:147213459-147213460	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188584475	chr4:147213461-147213462	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs62327821	chr4:147213464-147213465	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528234848	chr4:147213526-147213527	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs150534573	chr4:147213605-147213606	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs111832830	chr4:147213694-147213695	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112632980	chr4:147213711-147213712	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs116599961	chr4:147213750-147213751	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531103102	chr4:147213768-147213769	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	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
T-cell prolymphocytic leukemia	19278963	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21633010	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147167000-147217600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr4:147174400-147231200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr4:147174800-147218400	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr4:147175400-147225400	Weak transcription	Brain Hippocampus Middle	brain
5	chr4:147177400-147213400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr4:147179400-147217200	Weak transcription	Left Ventricle	heart
7	chr4:147179600-147214200	Weak transcription	Dnd41	blood
8	chr4:147180400-147233200	Weak transcription	Liver	Liver
9	chr4:147186600-147212800	Weak transcription	Psoas Muscle	Psoas
10	chr4:147188400-147215200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr4:147197400-147213200	Weak transcription	K562	blood
12	chr4:147198000-147224000	Weak transcription	Fetal Intestine Small	intestine
13	chr4:147201000-147224800	Weak transcription	HMEC	breast
14	chr4:147201000-147225400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:147201000-147249600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:147201600-147214600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr4:147204000-147220800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr4:147205600-147214000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:147205800-147217600	Weak transcription	Fetal Brain Female	brain
20	chr4:147206000-147216400	Weak transcription	Colon Smooth Muscle	Colon
21	chr4:147206200-147213800	Weak transcription	Placenta	Placenta
22	chr4:147206200-147217600	Weak transcription	Fetal Brain Male	brain
23	chr4:147206200-147225400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:147206800-147218000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr4:147207600-147213000	Weak transcription	HSMM	muscle
26	chr4:147207600-147216600	Weak transcription	Fetal Muscle Leg	muscle
27	chr4:147207600-147226600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr4:147208200-147213800	Weak transcription	Spleen	Spleen
29	chr4:147208200-147217000	Weak transcription	Fetal Kidney	kidney
30	chr4:147208200-147219200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr4:147208200-147220600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr4:147208200-147232800	Weak transcription	Aorta	Aorta
33	chr4:147208200-147234200	Weak transcription	Lung	lung
34	chr4:147208200-147247000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr4:147208400-147213400	Weak transcription	Fetal Stomach	stomach
36	chr4:147208400-147214800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr4:147208400-147221600	Weak transcription	Pancreas	Pancrea
38	chr4:147208400-147222400	Weak transcription	Esophagus	oesophagus
39	chr4:147208400-147224000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr4:147208400-147228400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr4:147208400-147249200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:147208400-147254600	Weak transcription	Gastric	stomach
43	chr4:147208600-147212800	Weak transcription	Right Ventricle	heart
44	chr4:147208600-147254800	Weak transcription	Adipose Nuclei	Adipose
45	chr4:147209000-147217200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr4:147209200-147216600	Weak transcription	Fetal Lung	lung
47	chr4:147209200-147249000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:147209400-147214400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:147209400-147225800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr4:147209400-147227800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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