Variant report

Variant	rs527528886
Chromosome Location	chr5:179194390-179194391
allele	A/G
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	IRF1	chr5:179194313-179194413	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	chr5:179159859..179161740-chr5:179192124..179194566,2	MCF-7	breast:
5	chr5:179189180..179191928-chr5:179192012..179195048,3	K562	blood:
6	chr5:179183781..179185717-chr5:179193398..179195095,2	K562	blood:
7	chr5:179190740..179195492-chr5:179198923..179204539,8	MCF-7	breast:
8	chr5:179192430..179194832-chr5:179221034..179223075,2	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	chr5:179186999..179190414-chr5:179192166..179194492,3	MCF-7	breast:

No data

Variant related genes	Relation type
MAML1	TF binding region
ENSG00000113269	Chromatin interaction
ENSG00000161021	Chromatin interaction
ENSG00000213316	Chromatin interaction
ENSG00000161011	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	chr5:179192000-179194400	Genic enhancers	Stomach Smooth Muscle	stomach
8	chr5:179192000-179200000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr5:179192000-179202000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
10	chr5:179192000-179207800	Strong transcription	Fetal Thymus	thymus
11	chr5:179192200-179194400	Genic enhancers	A549	lung
12	chr5:179192200-179194600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr5:179192200-179194800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:179192200-179194800	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr5:179192200-179194800	Strong transcription	Fetal Kidney	kidney
16	chr5:179192200-179195600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:179192200-179200000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
18	chr5:179192200-179206200	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:179192200-179206200	Strong transcription	Primary B cells from peripheral blood	blood
20	chr5:179192200-179206400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr5:179192200-179206400	Strong transcription	HepG2	liver
22	chr5:179192200-179207600	Strong transcription	Fetal Lung	lung
23	chr5:179192200-179207800	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr5:179192200-179208000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr5:179192200-179210400	Strong transcription	Brain Germinal Matrix	brain
26	chr5:179192400-179194800	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr5:179192400-179194800	Genic enhancers	Adipose Nuclei	Adipose
28	chr5:179192400-179194800	Genic enhancers	Duodenum Mucosa	Duodenum
29	chr5:179192400-179203600	Strong transcription	H9 Cell Line	embryonic stem cell
30	chr5:179192400-179205400	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr5:179192400-179206200	Strong transcription	GM12878-XiMat	blood
32	chr5:179192400-179207600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:179192400-179207600	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr5:179192600-179196800	Strong transcription	Gastric	stomach
35	chr5:179192600-179209800	Strong transcription	Primary T cells from cord blood	blood
36	chr5:179192800-179194400	Genic enhancers	Right Ventricle	heart
37	chr5:179192800-179205200	Strong transcription	Rectal Smooth Muscle	rectum
38	chr5:179192800-179207200	Strong transcription	Fetal Muscle Leg	muscle
39	chr5:179192800-179209800	Strong transcription	Fetal Brain Female	brain
40	chr5:179193000-179194800	Strong transcription	Hela-S3	cervix
41	chr5:179193000-179196000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr5:179193000-179196400	Genic enhancers	Primary B cells from cord blood	blood
43	chr5:179193000-179198200	Weak transcription	Stomach Mucosa	stomach
44	chr5:179193000-179210400	Strong transcription	Fetal Stomach	stomach
45	chr5:179193200-179195200	Enhancers	Primary hematopoietic stem cells	blood
46	chr5:179193200-179195200	Weak transcription	Fetal Heart	heart
47	chr5:179193400-179194400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:179193400-179194400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
49	chr5:179193400-179194400	Genic enhancers	Fetal Intestine Large	intestine
50	chr5:179193400-179194600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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