Variant report

Variant	esv3468104
Chromosome Location	chr4:187614433-187614916
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	chr4:187613163..187617339-chr4:187617909..187621339,4	K562	blood:
2	chr4:187607227..187608946-chr4:187613643..187615297,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10020743	chr4:187614434-187614435	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs76096441	chr4:187614476-187614477	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs568762648	chr4:187614488-187614489	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs113950746	chr4:187614511-187614512	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs150477536	chr4:187614530-187614531	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs116619698	chr4:187614543-187614544	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs188771999	chr4:187614547-187614548	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs138173414	chr4:187614581-187614582	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs149564498	chr4:187614588-187614589	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs535007674	chr4:187614598-187614599	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs79535302	chr4:187614640-187614641	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs555353605	chr4:187614658-187614659	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs35843239	chr4:187614722-187614723	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs572344934	chr4:187614816-187614817	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs540976674	chr4:187614831-187614832	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs115174331	chr4:187614915-187614916	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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
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
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	20409316	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Developmental delay	22127048	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cervical cancer	21063398	CNVD
XY gonadal dysgenesis	20685758	CNVD
Prostate cancer	22341455	CNVD
Schizophrenia	20967226	CNVD
Oral cancer	21386901	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187600200-187617000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:187604600-187618000	Weak transcription	Fetal Stomach	stomach
3	chr4:187604600-187626800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:187607400-187618200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr4:187608000-187619400	Weak transcription	Small Intestine	intestine
6	chr4:187608000-187632400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr4:187608200-187622200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr4:187609200-187614600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr4:187610200-187621200	Weak transcription	Brain Hippocampus Middle	brain
10	chr4:187610800-187615000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:187610800-187620600	Weak transcription	Fetal Kidney	kidney
12	chr4:187611000-187614800	Strong transcription	Fetal Intestine Small	intestine
13	chr4:187611000-187618200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr4:187611200-187614600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr4:187611400-187617200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:187611400-187617400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr4:187611600-187620600	Weak transcription	Fetal Lung	lung
18	chr4:187611800-187615000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:187611800-187616600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr4:187612000-187620800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr4:187612400-187614600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr4:187612400-187616200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr4:187612600-187615000	Strong transcription	Fetal Intestine Large	intestine
24	chr4:187612800-187616400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr4:187613000-187617400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr4:187613600-187614600	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr4:187613800-187614600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:187613800-187615200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:187613800-187615200	Flanking Active TSS	A549	lung
30	chr4:187613800-187615400	Enhancers	Pancreas	Pancrea
31	chr4:187614000-187615200	Enhancers	Adipose Nuclei	Adipose
32	chr4:187614000-187615400	Enhancers	Right Ventricle	heart
33	chr4:187614000-187615400	Enhancers	Stomach Mucosa	stomach
34	chr4:187614000-187615600	Enhancers	Colon Smooth Muscle	Colon
35	chr4:187614000-187615600	Enhancers	NHLF	lung
36	chr4:187614000-187615800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:187614000-187620000	Enhancers	Left Ventricle	heart
38	chr4:187614200-187614600	Genic enhancers	NHEK	skin
39	chr4:187614200-187614800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:187614200-187615000	Enhancers	Hela-S3	cervix
41	chr4:187614200-187615200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:187614400-187614600	Genic enhancers	H1 Cell Line	embryonic stem cell
43	chr4:187614400-187614600	Enhancers	H9 Cell Line	embryonic stem cell
44	chr4:187614400-187614600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr4:187614400-187614600	Genic enhancers	Duodenum Mucosa	Duodenum
46	chr4:187614400-187614600	Flanking Active TSS	Fetal Heart	heart
47	chr4:187614400-187614600	Enhancers	Fetal Muscle Leg	muscle
48	chr4:187614400-187614600	Enhancers	Right Atrium	heart
49	chr4:187614400-187614600	Flanking Active TSS	HSMM	muscle
50	chr4:187614400-187614600	Enhancers	HSMMtube	muscle

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