Variant report

Variant	rs138367529
Chromosome Location	chr3:48600230-48600231
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:48595520-48602478	A549	lung:	n/a	n/a
2	POLR2A	chr3:48597305-48601913	U87	brain:	n/a	n/a
3	POLR2A	chr3:48598540-48600602	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr3:48597367-48601913	U87	brain:	n/a	n/a
5	POLR2A	chr3:48588992-48602017	U87	brain:	n/a	n/a
6	POLR2A	chr3:48595475-48603087	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr3:48592306-48602182	U87	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:48595568..48597473-chr3:48598401..48600580,2	MCF-7	breast:
2	chr3:48592861..48595715-chr3:48598424..48603731,6	K562	blood:
3	chr3:48592800..48598084-chr3:48598125..48603493,9	MCF-7	breast:
4	chr3:48598893..48601513-chr3:48603815..48606240,3	MCF-7	breast:

No data

Variant related genes	Relation type
PFKFB4	TF binding region
ENSG00000114270	Chromatin interaction
ENSG00000114268	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008232	chr3:48517121-48702416	Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv523981	chr3:48520289-48721040	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1004383	chr3:48543794-48649772	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv834685	chr3:48565009-48745774	Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv876762	chr3:48591481-48731487	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv3811	chr3:48599180-48643809	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	18 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	chr3:48595400-48602000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:48596400-48603200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr3:48596600-48606800	Genic enhancers	A549	lung
4	chr3:48596600-48626000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr3:48597600-48606200	Genic enhancers	HMEC	breast
6	chr3:48598200-48600800	Weak transcription	Hela-S3	cervix
7	chr3:48598600-48600600	Weak transcription	Brain Anterior Caudate	brain
8	chr3:48598600-48601800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:48598600-48603400	Weak transcription	Lung	lung
10	chr3:48598600-48604000	Weak transcription	Fetal Intestine Large	intestine
11	chr3:48598600-48624000	Weak transcription	Aorta	Aorta
12	chr3:48598800-48600800	Weak transcription	Right Atrium	heart
13	chr3:48598800-48601000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr3:48598800-48604400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr3:48598800-48604800	Enhancers	Fetal Muscle Trunk	muscle
16	chr3:48598800-48606400	Weak transcription	Colonic Mucosa	Colon
17	chr3:48598800-48609000	Weak transcription	Esophagus	oesophagus
18	chr3:48598800-48615000	Weak transcription	Pancreas	Pancrea
19	chr3:48598800-48617200	Weak transcription	Brain Germinal Matrix	brain
20	chr3:48599000-48600400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr3:48599000-48600400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr3:48599000-48600600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr3:48599000-48600600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr3:48599000-48600600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr3:48599000-48600600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr3:48599000-48600600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr3:48599000-48600600	Weak transcription	Brain Substantia Nigra	brain
28	chr3:48599000-48600800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr3:48599000-48600800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:48599000-48600800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr3:48599000-48600800	Weak transcription	HUVEC	blood vessel
32	chr3:48599000-48601000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr3:48599000-48601000	Enhancers	Osteobl	bone
34	chr3:48599000-48601200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr3:48599000-48601200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr3:48599000-48601200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr3:48599000-48601200	Enhancers	Muscle Satellite Cultured Cells	--
38	chr3:48599000-48601200	Weak transcription	Brain Angular Gyrus	brain
39	chr3:48599000-48601200	Enhancers	HSMM	muscle
40	chr3:48599000-48601400	Enhancers	NH-A	brain
41	chr3:48599000-48601600	Weak transcription	Fetal Intestine Small	intestine
42	chr3:48599000-48602200	Enhancers	HepG2	liver
43	chr3:48599000-48602800	Weak transcription	Adipose Nuclei	Adipose
44	chr3:48599000-48603000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr3:48599000-48603200	Weak transcription	Placenta	Placenta
46	chr3:48599000-48603400	Weak transcription	Gastric	stomach
47	chr3:48599000-48604000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr3:48599000-48614800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr3:48599000-48623600	Weak transcription	Ovary	ovary
50	chr3:48599000-48632000	Weak transcription	Left Ventricle	heart

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