Variant report

Variant	esv14226
Chromosome Location	chr4:147206826-147208457
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:147207605..147209216-chr4:147213050..147215531,2	K562	blood:

Extended variants
information (count: 134 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148130596	chr4:147206829-147206830	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561497177	chr4:147206834-147206835	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568123830	chr4:147206873-147206874	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530622080	chr4:147206929-147206930	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368018497	chr4:147206952-147206953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186478581	chr4:147206976-147206977	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550920058	chr4:147206989-147206990	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75794306	chr4:147206992-147206993	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539758440	chr4:147207009-147207010	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553221261	chr4:147207019-147207020	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201237171	chr4:147207037-147207038	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201045753	chr4:147207075-147207076	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148485489	chr4:147207107-147207108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369584381	chr4:147207108-147207109	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201651164	chr4:147207156-147207157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535416615	chr4:147207183-147207184	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200115990	chr4:147207204-147207205	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375500723	chr4:147207213-147207214	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561733911	chr4:147207234-147207235	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs78942747	chr4:147207281-147207282	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs62327812	chr4:147207289-147207290	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs62327813	chr4:147207326-147207327	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76450926	chr4:147207327-147207328	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76332466	chr4:147207329-147207330	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs77133442	chr4:147207337-147207338	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79562560	chr4:147207351-147207352	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111452329	chr4:147207352-147207353	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs80214327	chr4:147207353-147207354	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs74863180	chr4:147207373-147207374	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs74459371	chr4:147207374-147207375	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77458485	chr4:147207377-147207378	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs146586978	chr4:147207394-147207395	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs62327814	chr4:147207398-147207399	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs77820295	chr4:147207400-147207401	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs78556490	chr4:147207402-147207403	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75184338	chr4:147207407-147207408	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575694846	chr4:147207409-147207410	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74895730	chr4:147207423-147207424	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375079052	chr4:147207424-147207425	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs75095510	chr4:147207431-147207432	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs79113403	chr4:147207436-147207437	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377730914	chr4:147207444-147207445	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs76538321	chr4:147207449-147207450	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs79360266	chr4:147207473-147207474	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs111738244	chr4:147207476-147207477	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs77105096	chr4:147207477-147207478	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373010322	chr4:147207495-147207496	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs79941414	chr4:147207497-147207498	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs80143505	chr4:147207521-147207522	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112144301	chr4:147207525-147207526	Strong transcription Weak transcription ZNF genes & repeats Genic 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:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147164800-147207200	Weak transcription	Thymus	Thymus
2	chr4:147165000-147207200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr4:147165200-147207200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:147166000-147207800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr4:147166800-147207200	Weak transcription	Right Ventricle	heart
6	chr4:147167000-147207200	Weak transcription	Aorta	Aorta
7	chr4:147167000-147217600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr4:147167400-147209000	Weak transcription	Ovary	ovary
9	chr4:147174400-147231200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr4:147174800-147207800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr4:147174800-147218400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr4:147175400-147225400	Weak transcription	Brain Hippocampus Middle	brain
13	chr4:147176800-147207200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:147177400-147213400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr4:147178200-147207800	Weak transcription	Primary B cells from cord blood	blood
16	chr4:147179000-147207200	Weak transcription	Fetal Stomach	stomach
17	chr4:147179200-147207200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:147179400-147217200	Weak transcription	Left Ventricle	heart
19	chr4:147179600-147214200	Weak transcription	Dnd41	blood
20	chr4:147180400-147233200	Weak transcription	Liver	Liver
21	chr4:147180600-147208200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr4:147182600-147207200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr4:147184000-147207200	Weak transcription	Lung	lung
24	chr4:147184600-147207000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr4:147186600-147212800	Weak transcription	Psoas Muscle	Psoas
26	chr4:147188400-147215200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr4:147189200-147207600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr4:147194600-147207200	Weak transcription	Esophagus	oesophagus
29	chr4:147197200-147207200	Weak transcription	Pancreas	Pancrea
30	chr4:147197400-147213200	Weak transcription	K562	blood
31	chr4:147197600-147207200	Weak transcription	Fetal Intestine Large	intestine
32	chr4:147198000-147224000	Weak transcription	Fetal Intestine Small	intestine
33	chr4:147200800-147207400	Weak transcription	Fetal Kidney	kidney
34	chr4:147201000-147207200	Weak transcription	Fetal Lung	lung
35	chr4:147201000-147224800	Weak transcription	HMEC	breast
36	chr4:147201000-147225400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:147201000-147249600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:147201600-147209600	Weak transcription	NH-A	brain
39	chr4:147201600-147214600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr4:147204000-147220800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr4:147204200-147208400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr4:147204200-147208600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr4:147204200-147211400	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr4:147204400-147208400	Weak transcription	NHEK	skin
45	chr4:147204600-147207200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr4:147204600-147209800	Weak transcription	Brain Substantia Nigra	brain
47	chr4:147205200-147207200	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr4:147205400-147207400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr4:147205600-147207200	Weak transcription	Gastric	stomach
50	chr4:147205600-147207400	Weak transcription	Rectal Mucosa Donor 29	rectum

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