Variant report

Variant	rs550636409
Chromosome Location	chr4:100856594-100856595
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:100856521-100856796	GM12878	blood:	n/a	n/a
2	KAP1	chr4:100856044-100856722	K562	blood:	n/a	n/a
3	KAP1	chr4:100856168-100856659	U2OS	brain:	n/a	n/a
4	SETDB1	chr4:100855980-100856689	U2OS	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:100855332..100857889-chr4:100866716..100868581,2	MCF-7	breast:
2	chr4:100854185..100858103-chr4:100869055..100872773,4	MCF-7	breast:
3	chr4:100855576..100858012-chr4:100858356..100861147,2	MCF-7	breast:
4	chr4:100856368..100857910-chr4:100866642..100868433,2	K562	blood:
5	chr4:100855120..100857614-chr4:100862703..100864671,2	K562	blood:
6	chr4:100856020..100858032-chr4:100868560..100871073,2	K562	blood:

No data

Variant related genes	Relation type
DNAJB14	TF binding region
ENSG00000245322	Chromatin interaction
ENSG00000164031	Chromatin interaction
ENSG00000164032	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879661	chr4:100805207-100869635	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv879662	chr4:100849466-100876648	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
3	esv1801295	chr4:100856441-100864204	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100816000-100867000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:100816000-100867000	Weak transcription	Lung	lung
3	chr4:100816200-100866200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:100820000-100866200	Weak transcription	Fetal Heart	heart
5	chr4:100824000-100865800	Weak transcription	Psoas Muscle	Psoas
6	chr4:100824400-100866000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr4:100828800-100866200	Weak transcription	Stomach Mucosa	stomach
8	chr4:100829200-100866600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:100829600-100866200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr4:100836600-100856800	Weak transcription	Spleen	Spleen
11	chr4:100839200-100857400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:100840000-100862600	Weak transcription	K562	blood
13	chr4:100840200-100864600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr4:100840200-100865800	Weak transcription	Ovary	ovary
15	chr4:100840200-100866000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr4:100840200-100867000	Weak transcription	Gastric	stomach
17	chr4:100840400-100856800	Weak transcription	Thymus	Thymus
18	chr4:100840400-100864600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr4:100840400-100866800	Weak transcription	Aorta	Aorta
20	chr4:100840400-100867000	Weak transcription	Esophagus	oesophagus
21	chr4:100840600-100862200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr4:100840800-100858200	Weak transcription	Fetal Stomach	stomach
23	chr4:100847800-100864600	Weak transcription	Hela-S3	cervix
24	chr4:100847800-100866200	Weak transcription	HSMMtube	muscle
25	chr4:100848400-100856600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr4:100848400-100866200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr4:100849600-100864800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr4:100850400-100864800	Weak transcription	HUVEC	blood vessel
29	chr4:100852000-100865400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr4:100852200-100866000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:100852400-100859000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:100852400-100863400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr4:100853200-100859800	ZNF genes & repeats	GM12878-XiMat	blood
34	chr4:100854800-100857000	ZNF genes & repeats	Fetal Lung	lung
35	chr4:100854800-100857200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr4:100855000-100857600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:100855200-100857000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:100855200-100857000	ZNF genes & repeats	Colon Smooth Muscle	Colon
39	chr4:100855200-100858000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr4:100855400-100856800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
41	chr4:100855400-100861400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr4:100855600-100857200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:100855600-100857200	ZNF genes & repeats	Fetal Thymus	thymus
44	chr4:100855600-100857600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
45	chr4:100855600-100858200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr4:100855800-100864600	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr4:100855800-100866000	Weak transcription	Colonic Mucosa	Colon
48	chr4:100856000-100856800	Strong transcription	Primary hematopoietic stem cells	blood
49	chr4:100856000-100856800	Weak transcription	Fetal Intestine Small	intestine
50	chr4:100856000-100857800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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