Variant report

Variant	esv2418320
Chromosome Location	chr4:106819289-106819690
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:106819579-106819746	HepG2	liver:	n/a	n/a
2	EP300	chr4:106819535-106819735	HepG2	liver:	n/a	n/a
3	EP300	chr4:106819430-106819777	HepG2	liver:	n/a	n/a
4	FOXA1	chr4:106819312-106819772	HepG2	liver:	n/a	n/a
5	FOXA1	chr4:106819414-106819810	T-47D	breast:	n/a	n/a
6	FOXA1	chr4:106819323-106819908	HepG2	liver:	n/a	n/a
7	FOXA1	chr4:106819273-106819925	HepG2	liver:	n/a	n/a
8	FOXA1	chr4:106819441-106819766	T-47D	breast:	n/a	n/a
9	FOXA1	chr4:106819368-106819867	HepG2	liver:	n/a	n/a
10	FOXA2	chr4:106819156-106820175	HepG2	liver:	n/a	n/a
11	FOXA2	chr4:106819463-106819784	HepG2	liver:	n/a	n/a
12	GATA2	chr4:106819372-106819668	SH-SY5Y	brain:	n/a	chr4:106819423-106819434
13	GATA3	chr4:106819366-106819763	T-47D	breast:	n/a	chr4:106819423-106819434
14	GATA3	chr4:106819091-106819907	MCF-7	breast:	n/a	chr4:106819423-106819434
15	GATA3	chr4:106819424-106819733	T-47D	breast:	n/a	n/a
16	GATA3	chr4:106819261-106819659	MCF-7	breast:	n/a	chr4:106819423-106819434
17	GATA3	chr4:106819389-106819737	MCF-7	breast:	n/a	chr4:106819423-106819434
18	GATA3	chr4:106819406-106819627	SH-SY5Y	brain:	n/a	chr4:106819423-106819434
19	GATA3	chr4:106819310-106819787	MCF-7	breast:	n/a	chr4:106819423-106819434
20	HDAC2	chr4:106819394-106819778	HepG2	liver:	n/a	n/a
21	HNF4A	chr4:106819441-106819749	HepG2	liver:	n/a	chr4:106819642-106819655 chr4:106819642-106819655
22	HNF4A	chr4:106819484-106819714	HepG2	liver:	n/a	chr4:106819642-106819655 chr4:106819642-106819655
23	HNF4G	chr4:106819461-106819758	HepG2	liver:	n/a	chr4:106819641-106819656 chr4:106819642-106819655 chr4:106819642-106819655
24	JUND	chr4:106819428-106819716	T-47D	breast:	n/a	n/a
25	JUND	chr4:106819321-106819748	HepG2	liver:	n/a	n/a
26	JUND	chr4:106819336-106819588	H1-hESC	embryonic stem cell:	n/a	n/a
27	KAP1	chr4:106819159-106819897	HEK293	kidney:	n/a	n/a
28	MBD4	chr4:106819389-106819831	HepG2	liver:	n/a	n/a
29	MYBL2	chr4:106819458-106819818	HepG2	liver:	n/a	n/a
30	MYBL2	chr4:106819339-106819880	HepG2	liver:	n/a	n/a
31	NFIC	chr4:106819426-106819895	HepG2	liver:	n/a	n/a
32	NFIC	chr4:106819465-106819794	HepG2	liver:	n/a	n/a
33	REST	chr4:106819462-106819754	HepG2	liver:	n/a	n/a
34	RXRA	chr4:106819421-106819703	HepG2	liver:	n/a	chr4:106819642-106819655 chr4:106819642-106819655
35	TBL1XR1	chr4:106819577-106819579	K562	blood:	n/a	n/a
36	TEAD4	chr4:106819401-106819886	HepG2	liver:	n/a	n/a
37	ZZZ3	chr4:106819302-106819569	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:106817938..106820838-chr4:106829455..106833276,3	MCF-7	breast:

Variant related genes	Relation type
INTS12	TF binding region
ENSG00000168743	chromatin interactions

Extended variants
information (count: 30 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568141290	chr4:106819308-106819309	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs182311511	chr4:106819322-106819323	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs554066848	chr4:106819347-106819348	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs146355937	chr4:106819402-106819403	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs552664030	chr4:106819405-106819406	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs556410374	chr4:106819421-106819422	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs148494812	chr4:106819448-106819449	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs576042356	chr4:106819450-106819451	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs541803873	chr4:106819453-106819454	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs113520650	chr4:106819467-106819468	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs112660803	chr4:106819468-106819469	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs13134230	chr4:106819469-106819470	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs549470564	chr4:106819478-106819479	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs555466994	chr4:106819482-106819483	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs10470989	chr4:106819485-106819486	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs572444625	chr4:106819490-106819491	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs6820679	chr4:106819505-106819506	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs577579985	chr4:106819507-106819508	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs545252963	chr4:106819509-106819510	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs540461079	chr4:106819517-106819518	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs186582473	chr4:106819519-106819520	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs532285331	chr4:106819528-106819529	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs66945682	chr4:106819536-106819537	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs73839049	chr4:106819537-106819538	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs192701180	chr4:106819538-106819539	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs184683015	chr4:106819591-106819592	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs188622269	chr4:106819592-106819593	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs78213340	chr4:106819613-106819614	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs548205327	chr4:106819628-106819629	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs530180670	chr4:106819647-106819648	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	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
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Cognitive impairment	21505072	CNVD
Acute myeloid leukemia	21251322	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106818000-106819400	Bivalent Enhancer	HepG2	liver
2	chr4:106818000-106824400	Weak transcription	Small Intestine	intestine
3	chr4:106818000-106844800	Weak transcription	Psoas Muscle	Psoas
4	chr4:106818200-106819400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:106818200-106819400	Enhancers	Duodenum Mucosa	Duodenum
6	chr4:106818200-106819400	Enhancers	Hela-S3	cervix
7	chr4:106818200-106819400	Enhancers	NHEK	skin
8	chr4:106818200-106820200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
9	chr4:106818200-106830400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr4:106818400-106819400	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr4:106818400-106819600	Enhancers	Fetal Heart	heart
12	chr4:106818800-106819400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:106818800-106819400	Flanking Active TSS	Fetal Intestine Small	intestine
14	chr4:106819000-106819400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
15	chr4:106819000-106819400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
16	chr4:106819000-106819400	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr4:106819000-106819400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:106819000-106819400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:106819000-106819400	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr4:106819000-106819400	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr4:106819000-106819400	Flanking Active TSS	GM12878-XiMat	blood
22	chr4:106819200-106819400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
23	chr4:106819200-106819400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
24	chr4:106819200-106819400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
25	chr4:106819200-106819400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:106819200-106819400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
27	chr4:106819200-106819400	Flanking Active TSS	Pancreas	Pancrea
28	chr4:106819200-106819600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
29	chr4:106819200-106819800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
30	chr4:106819200-106820000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
31	chr4:106819200-106821400	Weak transcription	HSMMtube	muscle
32	chr4:106819200-106836200	Weak transcription	Aorta	Aorta
33	chr4:106819200-106844600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr4:106819400-106819600	Bivalent Enhancer	Fetal Intestine Large	intestine
35	chr4:106819400-106819600	Bivalent Enhancer	Stomach Mucosa	stomach
36	chr4:106819400-106820000	Enhancers	Fetal Intestine Small	intestine
37	chr4:106819400-106820200	Enhancers	GM12878-XiMat	blood
38	chr4:106819400-106820600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
39	chr4:106819400-106820800	Enhancers	Pancreas	Pancrea
40	chr4:106819400-106820800	Enhancers	HepG2	liver
41	chr4:106819400-106823400	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr4:106819400-106825400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr4:106819400-106830600	Weak transcription	Duodenum Mucosa	Duodenum
44	chr4:106819600-106820000	Enhancers	Fetal Intestine Large	intestine
45	chr4:106819600-106820800	Weak transcription	Fetal Heart	heart

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