Variant report

Variant	rs564533319
Chromosome Location	chr5:179194689-179194690
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr5:179194479-179194903	K562	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179193094..179194973-chr5:179497469..179499850,2	K562	blood:
2	chr5:179192837..179195567-chr5:179212671..179216209,3	K562	blood:
3	chr5:179192926..179195030-chr5:179200613..179202484,2	MCF-7	breast:
4	chr5:179189180..179191928-chr5:179192012..179195048,3	K562	blood:
5	chr5:179183781..179185717-chr5:179193398..179195095,2	K562	blood:
6	chr5:179190740..179195492-chr5:179198923..179204539,8	MCF-7	breast:
7	chr5:179192430..179194832-chr5:179221034..179223075,2	MCF-7	breast:
8	chr5:179194529..179197142-chr5:179270965..179273520,2	MCF-7	breast:
9	chr5:179190822..179197512-chr5:179244986..179249382,7	K562	blood:
10	chr5:179192485..179195191-chr5:179221488..179224022,4	MCF-7	breast:
11	chr5:179192680..179196164-chr5:179217971..179221244,3	MCF-7	breast:
12	chr5:179194648..179196545-chr5:179230223..179233407,4	K562	blood:

No data

Variant related genes	Relation type
MAML1	TF binding region
ENSG00000113269	Chromatin interaction
ENSG00000161010	Chromatin interaction
ENSG00000222448	Chromatin interaction
ENSG00000161013	Chromatin interaction
ENSG00000161011	Chromatin interaction
ENSG00000213316	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
3	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
4	nsv469579	chr5:179184831-179360191	Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
5	nsv883274	chr5:179186397-179310330	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv518964	chr5:179193598-179227286	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	151 gene(s)	inside rSNPs	diseases
7	nsv883275	chr5:179193598-179267783	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
8	nsv883276	chr5:179193598-179310330	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
9	nsv883277	chr5:179193598-179350387	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 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	chr5:179190600-179194800	Enhancers	Right Atrium	heart
2	chr5:179190800-179207600	Strong transcription	Dnd41	blood
3	chr5:179191000-179203000	Weak transcription	Psoas Muscle	Psoas
4	chr5:179191200-179195400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:179191200-179196000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:179191200-179210400	Strong transcription	Thymus	Thymus
7	chr5:179192000-179200000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr5:179192000-179202000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
9	chr5:179192000-179207800	Strong transcription	Fetal Thymus	thymus
10	chr5:179192200-179194800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:179192200-179194800	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:179192200-179194800	Strong transcription	Fetal Kidney	kidney
13	chr5:179192200-179195600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:179192200-179200000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
15	chr5:179192200-179206200	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr5:179192200-179206200	Strong transcription	Primary B cells from peripheral blood	blood
17	chr5:179192200-179206400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr5:179192200-179206400	Strong transcription	HepG2	liver
19	chr5:179192200-179207600	Strong transcription	Fetal Lung	lung
20	chr5:179192200-179207800	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr5:179192200-179208000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr5:179192200-179210400	Strong transcription	Brain Germinal Matrix	brain
23	chr5:179192400-179194800	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr5:179192400-179194800	Genic enhancers	Adipose Nuclei	Adipose
25	chr5:179192400-179194800	Genic enhancers	Duodenum Mucosa	Duodenum
26	chr5:179192400-179203600	Strong transcription	H9 Cell Line	embryonic stem cell
27	chr5:179192400-179205400	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr5:179192400-179206200	Strong transcription	GM12878-XiMat	blood
29	chr5:179192400-179207600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr5:179192400-179207600	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr5:179192600-179196800	Strong transcription	Gastric	stomach
32	chr5:179192600-179209800	Strong transcription	Primary T cells from cord blood	blood
33	chr5:179192800-179205200	Strong transcription	Rectal Smooth Muscle	rectum
34	chr5:179192800-179207200	Strong transcription	Fetal Muscle Leg	muscle
35	chr5:179192800-179209800	Strong transcription	Fetal Brain Female	brain
36	chr5:179193000-179194800	Strong transcription	Hela-S3	cervix
37	chr5:179193000-179196000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr5:179193000-179196400	Genic enhancers	Primary B cells from cord blood	blood
39	chr5:179193000-179198200	Weak transcription	Stomach Mucosa	stomach
40	chr5:179193000-179210400	Strong transcription	Fetal Stomach	stomach
41	chr5:179193200-179195200	Enhancers	Primary hematopoietic stem cells	blood
42	chr5:179193200-179195200	Weak transcription	Fetal Heart	heart
43	chr5:179193400-179195000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:179193400-179207600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr5:179193400-179207800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr5:179193400-179208000	Strong transcription	Lung	lung
47	chr5:179193600-179195600	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr5:179193600-179195800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr5:179193600-179195800	Weak transcription	Fetal Brain Male	brain
50	chr5:179193600-179196200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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