Variant report

Variant	esv2370815
Chromosome Location	chr6:4020815-4021256
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	chr6:4021036-4021746	HepG2	liver:	n/a	n/a
2	ATF1	chr6:4021218-4021708	K562	blood:	n/a	n/a
3	BCLAF1	chr6:4021113-4022178	GM12878	blood:	n/a	chr6:4021981-4021994
4	BCLAF1	chr6:4021179-4022088	GM12878	blood:	n/a	chr6:4021981-4021994
5	BCLAF1	chr6:4020947-4022061	K562	blood:	n/a	chr6:4021981-4021994
6	BCLAF1	chr6:4020994-4022053	K562	blood:	n/a	chr6:4021981-4021994
7	BHLHE40	chr6:4021071-4022120	K562	blood:	n/a	chr6:4021905-4021921 chr6:4021972-4021988
8	BHLHE40	chr6:4021012-4022324	GM12878	blood:	n/a	chr6:4021905-4021921 chr6:4021972-4021988
9	BRCA1	chr6:4021063-4021847	Hela-S3	cervix:	n/a	n/a
10	CBX3	chr6:4021185-4021838	K562	blood:	n/a	n/a
11	CBX3	chr6:4021066-4021657	K562	blood:	n/a	n/a
12	CEBPB	chr6:4021090-4021767	K562	blood:	n/a	n/a
13	CEBPD	chr6:4021154-4021887	K562	blood:	n/a	n/a
14	CEBPD	chr6:4021191-4021802	HepG2	liver:	n/a	n/a
15	CEBPD	chr6:4021057-4021960	K562	blood:	n/a	n/a
16	CHD1	chr6:4021012-4024108	IMR90	lung:	n/a	chr6:4021945-4021955
17	CHD1	chr6:4021134-4022744	H1-hESC	embryonic stem cell:	n/a	chr6:4021945-4021955
18	CHD2	chr6:4021247-4022224	Hela-S3	cervix:	n/a	chr6:4021945-4021955
19	CHD2	chr6:4021095-4021987	HepG2	liver:	n/a	chr6:4021945-4021955
20	CHD2	chr6:4021204-4022196	GM12878	blood:	n/a	chr6:4021945-4021955
21	CHD2	chr6:4021153-4022212	K562	blood:	n/a	chr6:4021945-4021955
22	CREB1	chr6:4021188-4022205	K562	blood:	n/a	n/a
23	CREB1	chr6:4021209-4021802	ECC-1	luminal epithelium:	n/a	n/a
24	CREB1	chr6:4021233-4022097	H1-hESC	embryonic stem cell:	n/a	n/a
25	CREB1	chr6:4021252-4021722	A549	lung:	n/a	n/a
26	CREB1	chr6:4021225-4021817	ECC-1	luminal epithelium:	n/a	n/a
27	CREB1	chr6:4021172-4022151	GM12878	blood:	n/a	n/a
28	CREB1	chr6:4020985-4022258	HepG2	liver:	n/a	n/a
29	CREB1	chr6:4021116-4022129	K562	blood:	n/a	n/a
30	CREB1	chr6:4021163-4022171	HepG2	liver:	n/a	n/a
31	CUX1	chr6:4021061-4021571	K562	blood:	n/a	n/a
32	E2F4	chr6:4021177-4021905	MCF10A-Er-Src	breast:	n/a	chr6:4021766-4021778 chr6:4021769-4021777 chr6:4021770-4021777 chr6:4021770-4021777 chr6:4021770-4021777
33	E2F6	chr6:4021238-4022226	K562	blood:	n/a	chr6:4021766-4021778 chr6:4021769-4021777 chr6:4021770-4021777 chr6:4021770-4021777 chr6:4021770-4021777
34	E2F6	chr6:4021172-4022027	H1-hESC	embryonic stem cell:	n/a	chr6:4021766-4021778 chr6:4021769-4021777 chr6:4021770-4021777 chr6:4021770-4021777 chr6:4021770-4021777
35	EBF1	chr6:4021213-4021946	GM12878	blood:	n/a	n/a
36	EGR1	chr6:4021219-4021741	K562	blood:	n/a	n/a
37	ELF1	chr6:4021087-4022353	MCF-7	breast:	n/a	chr6:4021457-4021466
38	ELF1	chr6:4021189-4022116	HepG2	liver:	n/a	chr6:4021457-4021466
39	ELF1	chr6:4021228-4021856	SK-N-SH	brain:	n/a	chr6:4021457-4021466
40	ELF1	chr6:4021198-4022026	GM12878	blood:	n/a	chr6:4021457-4021466
41	ELF1	chr6:4021048-4022034	MCF-7	breast:	n/a	chr6:4021457-4021466
42	ELF1	chr6:4021146-4021941	SK-N-SH	brain:	n/a	chr6:4021457-4021466
43	ELF1	chr6:4021249-4021695	A549	lung:	n/a	chr6:4021457-4021466
44	ELF1	chr6:4021229-4021782	K562	blood:	n/a	chr6:4021457-4021466
45	ELF1	chr6:4021189-4022093	K562	blood:	n/a	chr6:4021457-4021466
46	ELF1	chr6:4021044-4022169	HCT-116	colon:	n/a	chr6:4021457-4021466
47	ELF1	chr6:4021251-4021674	A549	lung:	n/a	chr6:4021457-4021466
48	ELK1	chr6:4021191-4021817	K562	blood:	n/a	n/a
49	ELK1	chr6:4021169-4022359	Hela-S3	cervix:	n/a	n/a
50	ELK1	chr6:4021033-4021871	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:4017302..4025509-chr6:4131840..4138381,19	K562	blood:
2	chr6:2988870..2991161-chr6:4018285..4020823,2	K562	blood:
3	chr6:4019656..4024130-chr6:4049502..4053557,5	K562	blood:
4	chr6:4016355..4024618-chr6:4131840..4138381,21	K562	blood:
5	chr6:4020118..4023028-chr6:4056131..4059224,3	K562	blood:
6	chr6:3064193..3067093-chr6:4018828..4021333,2	K562	blood:
7	chr6:4016030..4019961-chr6:4020836..4023596,5	MCF-7	breast:
8	chr6:4020118..4022120-chr6:4056131..4059470,3	K562	blood:
9	chr17:39844666..39845562-chr6:4020847..4021646,2	Hela-S3	cervix:

Variant related genes	Relation type
PRPF4B	TF binding region
ENSG00000173812	chromatin interactions
ENSG00000254821	chromatin interactions
ENSG00000244041	chromatin interactions
ENSG00000198721	chromatin interactions
ENSG00000272248	chromatin interactions
ENSG00000112739	chromatin interactions
ENSG00000145975	chromatin interactions
ENSG00000137275	chromatin interactions
ENSG00000234817	chromatin interactions
ENSG00000124588	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5873909	chr6:4020832-4020833	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs386405947	chr6:4020833-4020834	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs562199109	chr6:4020842-4020843	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs376906023	chr6:4020911-4020912	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs554153601	chr6:4020944-4020945	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs187902669	chr6:4020971-4020972	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs570758646	chr6:4020999-4021000	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs567961417	chr6:4021013-4021014	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs374306872	chr6:4021014-4021015	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs66735168	chr6:4021015-4021016	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs533663058	chr6:4021048-4021049	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs376866110	chr6:4021062-4021063	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs75822419	chr6:4021103-4021104	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs550461874	chr6:4021132-4021133	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs569507281	chr6:4021153-4021154	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs545317529	chr6:4021157-4021158	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs9378394	chr6:4021163-4021164	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs143270298	chr6:4021184-4021185	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs377409366	chr6:4021228-4021229	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs9405693	chr6:4021238-4021239	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs572153497	chr6:4021255-4021256	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Uveal melanoma	20484589	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
small cell lung cancer	20016488	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD

Chromatin state (count:213 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4017400-4023000	Active TSS	K562	blood
2	chr6:4019000-4021200	Weak transcription	Gastric	stomach
3	chr6:4019000-4021200	Weak transcription	Spleen	Spleen
4	chr6:4019200-4021000	Weak transcription	Ovary	ovary
5	chr6:4019200-4021200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:4019200-4021200	Weak transcription	Esophagus	oesophagus
7	chr6:4019200-4021200	Weak transcription	Lung	lung
8	chr6:4019200-4021200	Flanking Active TSS	Dnd41	blood
9	chr6:4019400-4021000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:4019400-4021000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:4019400-4021000	Enhancers	Primary T cells fromperipheralblood	blood
12	chr6:4019400-4021000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr6:4019400-4021000	Weak transcription	Left Ventricle	heart
14	chr6:4019400-4021000	Weak transcription	Right Atrium	heart
15	chr6:4019400-4021200	Weak transcription	Aorta	Aorta
16	chr6:4019600-4021000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr6:4019600-4021000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr6:4019600-4021000	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr6:4019600-4021000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr6:4019600-4021000	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr6:4019600-4021000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr6:4019600-4021200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:4019600-4023000	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr6:4019800-4021000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr6:4019800-4021000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:4019800-4021000	Enhancers	Primary T cells from cord blood	blood
27	chr6:4019800-4021000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr6:4019800-4021000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr6:4019800-4021000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr6:4019800-4021000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr6:4019800-4021000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr6:4019800-4021000	Weak transcription	Stomach Mucosa	stomach
33	chr6:4019800-4021200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr6:4019800-4021200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:4019800-4021200	Weak transcription	Small Intestine	intestine
36	chr6:4020000-4021000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr6:4020000-4021000	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr6:4020000-4021000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr6:4020000-4021000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr6:4020000-4021000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr6:4020000-4021000	Weak transcription	Hela-S3	cervix
42	chr6:4020000-4021200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr6:4020000-4023000	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr6:4020000-4023200	Active TSS	HSMM	muscle
45	chr6:4020000-4023400	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr6:4020200-4021000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr6:4020200-4022800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:4020400-4021000	Enhancers	Fetal Stomach	stomach
49	chr6:4020400-4021200	Weak transcription	Pancreas	Pancrea
50	chr6:4020400-4021400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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