Variant report

Variant	rs547485070
Chromosome Location	chr4:186887195-186887196
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:186884071..186886436-chr4:186886448..186888967,3	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv530178	chr4:186659940-187478310	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats 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	26 gene(s)	inside rSNPs	diseases
5	nsv1015236	chr4:186696172-187004074	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1022661	chr4:186789827-187122464	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv537422	chr4:186789827-187122464	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv1032178	chr4:186836629-186909596	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1033839	chr4:186867069-186926243	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv596388	chr4:186884336-186935835	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1031839	chr4:186887057-186936464	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv537424	chr4:186887057-186936464	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186883000-186888000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:186886200-186888200	Enhancers	Ovary	ovary
3	chr4:186886400-186887200	Enhancers	Fetal Intestine Small	intestine
4	chr4:186886400-186887400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr4:186886400-186887400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr4:186886400-186887400	Enhancers	HepG2	liver
7	chr4:186886400-186888600	Enhancers	HUVEC	blood vessel
8	chr4:186886600-186887200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:186886600-186888000	Enhancers	Right Ventricle	heart
10	chr4:186886600-186888200	Enhancers	Placenta	Placenta
11	chr4:186886600-186888200	Enhancers	Left Ventricle	heart
12	chr4:186886600-186889200	Enhancers	Hela-S3	cervix
13	chr4:186886800-186887200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr4:186886800-186887200	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr4:186886800-186887400	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr4:186886800-186887400	Enhancers	Primary B cells from peripheral blood	blood
17	chr4:186886800-186887400	Active TSS	Monocytes-CD14+_RO01746	blood
18	chr4:186886800-186889000	Enhancers	NHDF-Ad	bronchial
19	chr4:186886800-186889400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:186887000-186887200	Enhancers	Fetal Muscle Leg	muscle
21	chr4:186887000-186887200	Enhancers	Lung	lung
22	chr4:186887000-186887200	Enhancers	HSMMtube	muscle
23	chr4:186887000-186887200	Enhancers	NH-A	brain
24	chr4:186887000-186887400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:186887000-186887400	Active TSS	Adipose Nuclei	Adipose
26	chr4:186887000-186887400	Enhancers	Placenta Amnion	Placenta Amnion
27	chr4:186887000-186887400	Active TSS	Rectal Smooth Muscle	rectum
28	chr4:186887000-186887400	Enhancers	NHLF	lung
29	chr4:186887000-186887600	Active TSS	Stomach Smooth Muscle	stomach
30	chr4:186887000-186888200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr4:186887000-186888200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:186887000-186888200	Enhancers	Right Atrium	heart
33	chr4:186887000-186888800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:186887000-186888800	Enhancers	Osteobl	bone

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