Variant report

Variant	rs386405947
Chromosome Location	chr6:4020833-4020834
allele	-/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr6:4020304-4022486	K562	blood:	n/a	n/a
2	POLR2A	chr6:4020325-4022372	K562	blood:	n/a	n/a
3	POLR2A	chr6:4020353-4022370	K562	blood:	n/a	n/a
4	PML	chr6:4020729-4022360	K562	blood:	n/a	n/a
5	POLR2A	chr6:4020181-4022367	K562	blood:	n/a	n/a
6	PML	chr6:4020733-4022274	K562	blood:	n/a	n/a
7	POLR2A	chr6:4020060-4020991	K562	blood:	n/a	n/a
8	POLR2A	chr6:4020342-4022148	K562	blood:	n/a	n/a
9	TEAD4	chr6:4020777-4023001	K562	blood:	n/a	n/a
10	MXI1	chr6:4020413-4023130	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr6:4017528-4022907	K562	blood:	n/a	n/a
12	POLR2A	chr6:4020291-4022391	K562	blood:	n/a	n/a
13	GABPA	chr6:4020723-4022215	MCF-7	breast:	n/a	n/a
14	POLR2A	chr6:4020733-4022358	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:4016355..4024618-chr6:4131840..4138381,21	K562	blood:
2	chr6:4017302..4025509-chr6:4131840..4138381,19	K562	blood:
3	chr6:4019656..4024130-chr6:4049502..4053557,5	K562	blood:
4	chr6:3064193..3067093-chr6:4018828..4021333,2	K562	blood:
5	chr6:4020118..4022120-chr6:4056131..4059470,3	K562	blood:
6	chr6:4020118..4023028-chr6:4056131..4059224,3	K562	blood:

No data

Variant related genes	Relation type
PRPF4B	TF binding region
ENSG00000137275	Chromatin interaction
ENSG00000112739	Chromatin interaction
ENSG00000234817	Chromatin interaction
ENSG00000145975	Chromatin interaction
ENSG00000198721	Chromatin interaction
ENSG00000254821	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532020	chr6:3417520-4140257	Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1022968	chr6:3862744-4272502	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv538106	chr6:3862744-4272502	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv2370815	chr6:4020815-4021256	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

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

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links