Variant report

Variant	rs9843091
Chromosome Location	chr3:48459813-48459814
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:48459142-48461542	HepG2	liver:	n/a	n/a
2	POLR2A	chr3:48459277-48459851	HepG2	liver:	n/a	n/a
3	POLR2A	chr3:48458773-48460503	HepG2	liver:	n/a	n/a
4	POLR2A	chr3:48459517-48459891	HepG2	liver:	n/a	n/a
5	POLR2A	chr3:48459588-48459824	ECC-1	luminal epithelium:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:48458996..48461252-chr3:48463522..48466365,3	K562	blood:
2	chr3:48458259..48460694-chr3:48478994..48481496,2	K562	blood:
3	chr3:48459081..48461031-chr3:48464521..48467488,2	MCF-7	breast:
4	chr3:48458543..48460815-chr3:48474825..48476794,2	MCF-7	breast:

No data

Variant related genes	Relation type
PLXNB1	TF binding region
ENSG00000164051	Chromatin interaction
ENSG00000164050	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13325221	0.94[MKK][hapmap]
rs34897778	1.00[AMR][1000 genomes]
rs9311427	0.82[LWK][hapmap];1.00[MKK][hapmap]
rs9841713	0.82[LWK][hapmap];1.00[MKK][hapmap]
rs9875911	1.00[ASW][hapmap]

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	nsv834683	chr3:48301504-48493261	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers 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	73 gene(s)	inside rSNPs	diseases
2	nsv834684	chr3:48385699-48589323	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv590242	chr3:48433635-48556339	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48442000-48466200	Strong transcription	Fetal Intestine Small	intestine
2	chr3:48442000-48467400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:48442200-48464600	Strong transcription	Brain Germinal Matrix	brain
4	chr3:48442200-48466800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr3:48442600-48466600	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr3:48443000-48464800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:48443000-48467000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:48443200-48466400	Strong transcription	H1 Cell Line	embryonic stem cell
9	chr3:48443400-48462400	Strong transcription	Liver	Liver
10	chr3:48443600-48461400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:48443600-48463800	Strong transcription	HepG2	liver
12	chr3:48443800-48465800	Strong transcription	Fetal Intestine Large	intestine
13	chr3:48443800-48466000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr3:48443800-48466000	Strong transcription	Fetal Brain Female	brain
15	chr3:48443800-48466400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:48443800-48466400	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr3:48443800-48466600	Weak transcription	NH-A	brain
18	chr3:48444000-48464200	Strong transcription	Lung	lung
19	chr3:48444000-48464400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:48444000-48465800	Strong transcription	Duodenum Mucosa	Duodenum
21	chr3:48444000-48466000	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr3:48444000-48466000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr3:48444200-48461400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr3:48444200-48463400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
25	chr3:48444400-48461000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr3:48444400-48465000	Weak transcription	Fetal Brain Male	brain
27	chr3:48444400-48466000	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr3:48444400-48466200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr3:48444400-48466200	Weak transcription	Right Atrium	heart
30	chr3:48444400-48467200	Weak transcription	NHDF-Ad	bronchial
31	chr3:48444400-48468600	Weak transcription	HUVEC	blood vessel
32	chr3:48444600-48460400	Strong transcription	Fetal Muscle Trunk	muscle
33	chr3:48444600-48465400	Strong transcription	H9 Cell Line	embryonic stem cell
34	chr3:48444600-48465800	Strong transcription	Fetal Stomach	stomach
35	chr3:48444600-48466200	Strong transcription	Placenta Amnion	Placenta Amnion
36	chr3:48444800-48463200	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr3:48444800-48463800	Strong transcription	Gastric	stomach
38	chr3:48445000-48461400	Strong transcription	Fetal Muscle Leg	muscle
39	chr3:48445000-48464600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr3:48445200-48462600	Strong transcription	Ovary	ovary
41	chr3:48445200-48462600	Strong transcription	HSMMtube	muscle
42	chr3:48445200-48462800	Strong transcription	Right Ventricle	heart
43	chr3:48445200-48464000	Strong transcription	Pancreas	Pancrea
44	chr3:48445600-48460800	Strong transcription	Left Ventricle	heart
45	chr3:48445600-48461200	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr3:48445800-48463400	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr3:48447000-48460200	Strong transcription	Adipose Nuclei	Adipose
48	chr3:48447400-48460800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr3:48447400-48465200	Weak transcription	Fetal Heart	heart
50	chr3:48447600-48462400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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