Variant report

Variant	esv3443192
Chromosome Location	chr4:147225234-147271217
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:29)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:147263518..147264744-chr4:148017893..148018774,4	K562	blood:
2	chr4:147228131..147230606-chr4:147231821..147234512,2	K562	blood:
3	chr4:147263663..147264500-chr4:147465865..147466846,2	MCF-7	breast:
4	chr4:147162568..147164848-chr4:147257539..147260414,5	MCF-7	breast:
5	chr4:147165326..147167236-chr4:147257804..147260774,3	MCF-7	breast:
6	chr4:147162159..147163747-chr4:147259518..147260348,5	MCF-7	breast:
7	chr4:146858016..146860024-chr4:147250231..147252357,2	MCF-7	breast:
8	chr4:147263139..147264371-chr4:147837317..147838082,3	K562	blood:
9	chr4:147162002..147168172-chr4:147253902..147262824,27	MCF-7	breast:
10	chr4:147190917..147192966-chr4:147255920..147257671,2	MCF-7	breast:
11	chr4:146856345..146860229-chr4:147256179..147259928,4	MCF-7	breast:
12	chr4:147228585..147230437-chr4:147230480..147232444,2	MCF-7	breast:
13	chr4:147250783..147254830-chr4:147255041..147259510,7	MCF-7	breast:
14	chr4:147254547..147257377-chr4:147259136..147260909,2	K562	blood:
15	chr4:147263863..147264515-chr4:147837073..147838285,5	MCF-7	breast:
16	chr4:147165995..147167132-chr4:147252091..147252899,3	MCF-7	breast:
17	chr4:147165861..147167805-chr4:147250509..147253792,3	MCF-7	breast:
18	chr4:147261249..147262199-chr4:147837628..147838274,2	MCF-7	breast:
19	chr4:147162935..147163602-chr4:147261739..147262298,3	MCF-7	breast:
20	chr4:147228585..147230437-chr4:147230480..147232444,2	MCF-7	breast:
21	chr4:147228131..147230606-chr4:147231821..147234512,2	K562	blood:
22	chr4:147163033..147163759-chr4:147261778..147262323,2	MCF-7	breast:
23	chr4:147096365..147098280-chr4:147250608..147253432,2	MCF-7	breast:
24	chr4:147254547..147257377-chr4:147259136..147260909,2	K562	blood:
25	chr4:147227740..147230606-chr4:147233012..147234807,2	K562	blood:
26	chr4:147227740..147230606-chr4:147233012..147234807,2	K562	blood:
27	chr4:147250783..147254830-chr4:147255041..147259510,7	MCF-7	breast:
28	chr4:147246661..147249612-chr4:147255793..147257750,2	MCF-7	breast:
29	chr4:147246661..147249612-chr4:147255793..147257750,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TTC29-2	chr4:147250059-147250468	ucscGeneNc_uc010ioy_1
2	lnc-TTC29-2	chr4:147252203-147252352	ucscGeneNc_uc010ioy_1
3	lnc-TTC29-2	chr4:147251913-147252075	ucscGeneNc_uc010ioy_1
4	lnc-TTC29-2	chr4:147254244-147255067	ucscGeneNc_uc010ioy_1
5	lnc-TTC29-2	chr4:147262348-147262515	ucscGeneNc_uc010ioy_1

No data

Variant related genes	Relation type
ENSG00000251010	chromatin interactions
ENSG00000151612	chromatin interactions
ENSG00000164167	chromatin interactions

Extended variants
information (count: 1589 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1589 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189554537	chr4:147225252-147225253	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200442792	chr4:147225279-147225280	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201501700	chr4:147225281-147225282	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376784271	chr4:147225295-147225296	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562468610	chr4:147225309-147225310	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142213508	chr4:147225343-147225344	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551130650	chr4:147225381-147225382	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181562531	chr4:147225407-147225408	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs527395710	chr4:147225449-147225450	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs374874255	chr4:147225459-147225460	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs547438833	chr4:147225483-147225484	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs75882297	chr4:147225492-147225493	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs536880086	chr4:147225503-147225504	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs556793765	chr4:147225508-147225509	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs570404186	chr4:147225554-147225555	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs539298780	chr4:147225613-147225614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558684737	chr4:147225614-147225615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572379819	chr4:147225621-147225622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534825031	chr4:147225661-147225662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs151229553	chr4:147225707-147225708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140293215	chr4:147225735-147225736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542459030	chr4:147225808-147225809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562331131	chr4:147225839-147225840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575937548	chr4:147225842-147225843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545238180	chr4:147225868-147225869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564749899	chr4:147225958-147225959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527245985	chr4:147225961-147225962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547061589	chr4:147225962-147225963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560991756	chr4:147225964-147225965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529805474	chr4:147225974-147225975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550407729	chr4:147225975-147225976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570217151	chr4:147225989-147225990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538985775	chr4:147225998-147225999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552804330	chr4:147226040-147226041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6849067	chr4:147226054-147226055	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs535048136	chr4:147226057-147226058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554537883	chr4:147226105-147226106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147617692	chr4:147226145-147226146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191969732	chr4:147226150-147226151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183705416	chr4:147226151-147226152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575804812	chr4:147226170-147226171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544990944	chr4:147226178-147226179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6823006	chr4:147226249-147226250	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs565218437	chr4:147226279-147226280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572223893	chr4:147226287-147226288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200798562	chr4:147226348-147226349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6854541	chr4:147226374-147226375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560828114	chr4:147226380-147226381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529817706	chr4:147226471-147226472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375252176	chr4:147226501-147226502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Breast cancer	20393555	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:425 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147174400-147231200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr4:147175400-147225400	Weak transcription	Brain Hippocampus Middle	brain
3	chr4:147180400-147233200	Weak transcription	Liver	Liver
4	chr4:147201000-147225400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:147201000-147249600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:147206200-147225400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:147207600-147226600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr4:147208200-147232800	Weak transcription	Aorta	Aorta
9	chr4:147208200-147234200	Weak transcription	Lung	lung
10	chr4:147208200-147247000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr4:147208400-147228400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:147208400-147249200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:147208400-147254600	Weak transcription	Gastric	stomach
14	chr4:147208600-147254800	Weak transcription	Adipose Nuclei	Adipose
15	chr4:147209200-147249000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:147209400-147225800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr4:147209400-147227800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr4:147209400-147245600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr4:147209600-147225400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr4:147209600-147229200	Weak transcription	Ovary	ovary
21	chr4:147210400-147227800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr4:147212800-147229400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:147212800-147264200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr4:147213600-147225400	Weak transcription	Primary B cells from cord blood	blood
25	chr4:147215600-147254800	Weak transcription	Primary T cells from cord blood	blood
26	chr4:147221000-147225800	Weak transcription	HSMMtube	muscle
27	chr4:147221000-147227200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr4:147221200-147227600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr4:147222800-147235800	Weak transcription	Esophagus	oesophagus
30	chr4:147223800-147227800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:147224200-147235200	Weak transcription	Psoas Muscle	Psoas
32	chr4:147224400-147230600	Weak transcription	GM12878-XiMat	blood
33	chr4:147224800-147225400	Active TSS	HMEC	breast
34	chr4:147225000-147225400	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr4:147225000-147225400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr4:147225000-147225400	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr4:147225000-147225400	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr4:147225400-147225600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:147225400-147225600	ZNF genes & repeats	Primary B cells from cord blood	blood
40	chr4:147225400-147225600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr4:147225400-147225600	ZNF genes & repeats	Brain Hippocampus Middle	brain
42	chr4:147225400-147225600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
43	chr4:147225600-147228000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr4:147225600-147229200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:147225600-147230400	Weak transcription	Brain Hippocampus Middle	brain
46	chr4:147225600-147245600	Weak transcription	Primary B cells from cord blood	blood
47	chr4:147226400-147229800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr4:147227800-147228400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:147227800-147228400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:147227800-147228800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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