Variant report

Variant	rs4858818
Chromosome Location	chr3:48450082-48450083
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:48449622-48450409	HepG2	liver:	n/a	n/a
2	CTCF	chr3:48450020-48450170	HRE	kidney:	n/a	n/a
3	POLR2A	chr3:48449401-48451542	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:48447403..48451386-chr3:48469064..48473166,5	MCF-7	breast:
2	chr3:48444336..48449518-chr3:48449648..48454416,7	K562	blood:
3	chr3:48433970..48436088-chr3:48448312..48450443,2	K562	blood:

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

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10780032	1.00[EUR][1000 genomes]
rs11130161	1.00[YRI][hapmap]
rs11130169	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11915428	1.00[EUR][1000 genomes]
rs13062723	1.00[AMR][1000 genomes]
rs1380260	0.80[AFR][1000 genomes]
rs1459247	1.00[YRI][hapmap]
rs17080119	0.80[AFR][1000 genomes]
rs1870441	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs34537842	0.80[AFR][1000 genomes]
rs34857497	0.80[AFR][1000 genomes]
rs3731495	1.00[EUR][1000 genomes]
rs3731539	1.00[EUR][1000 genomes]
rs3731547	1.00[EUR][1000 genomes]
rs3924179	1.00[EUR][1000 genomes]
rs4858813	0.80[AFR][1000 genomes]
rs4858814	0.80[AFR][1000 genomes]
rs4858815	0.81[AFR][1000 genomes]
rs55782175	1.00[EUR][1000 genomes]
rs58835493	1.00[EUR][1000 genomes]
rs59352296	1.00[EUR][1000 genomes]
rs6442115	0.81[AFR][1000 genomes]
rs6442122	1.00[EUR][1000 genomes]
rs6791777	1.00[EUR][1000 genomes]
rs6793732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6801348	1.00[EUR][1000 genomes]
rs73830466	1.00[EUR][1000 genomes]
rs73831562	1.00[EUR][1000 genomes]
rs73831565	1.00[EUR][1000 genomes]
rs73831572	1.00[EUR][1000 genomes]
rs73831577	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73831579	1.00[EUR][1000 genomes]
rs7633433	1.00[EUR][1000 genomes]
rs876597	1.00[YRI][hapmap]
rs898226	1.00[EUR][1000 genomes]
rs9852211	1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs986742	1.00[YRI][hapmap]
rs9917799	1.00[EUR][1000 genomes]

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:98 , 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	chr3:48442400-48450200	Weak transcription	Stomach Mucosa	stomach
6	chr3:48442600-48466600	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr3:48443000-48464800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:48443000-48467000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:48443200-48466400	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr3:48443400-48456200	Weak transcription	Small Intestine	intestine
11	chr3:48443400-48462400	Strong transcription	Liver	Liver
12	chr3:48443600-48461400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr3:48443600-48463800	Strong transcription	HepG2	liver
14	chr3:48443800-48465800	Strong transcription	Fetal Intestine Large	intestine
15	chr3:48443800-48466000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr3:48443800-48466000	Strong transcription	Fetal Brain Female	brain
17	chr3:48443800-48466400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr3:48443800-48466400	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr3:48443800-48466600	Weak transcription	NH-A	brain
20	chr3:48444000-48464200	Strong transcription	Lung	lung
21	chr3:48444000-48464400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:48444000-48465800	Strong transcription	Duodenum Mucosa	Duodenum
23	chr3:48444000-48466000	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr3:48444000-48466000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr3:48444200-48450400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr3:48444200-48452000	Weak transcription	HSMM	muscle
27	chr3:48444200-48455600	Strong transcription	Brain Anterior Caudate	brain
28	chr3:48444200-48459200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr3:48444200-48459200	Weak transcription	Osteobl	bone
30	chr3:48444200-48461400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr3:48444200-48463400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
32	chr3:48444400-48455200	Strong transcription	Brain Inferior Temporal Lobe	brain
33	chr3:48444400-48455600	Strong transcription	Brain Cingulate Gyrus	brain
34	chr3:48444400-48461000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr3:48444400-48465000	Weak transcription	Fetal Brain Male	brain
36	chr3:48444400-48466000	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr3:48444400-48466200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr3:48444400-48466200	Weak transcription	Right Atrium	heart
39	chr3:48444400-48467200	Weak transcription	NHDF-Ad	bronchial
40	chr3:48444400-48468600	Weak transcription	HUVEC	blood vessel
41	chr3:48444600-48454200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr3:48444600-48454800	Strong transcription	Placenta	Placenta
43	chr3:48444600-48458800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:48444600-48460400	Strong transcription	Fetal Muscle Trunk	muscle
45	chr3:48444600-48465400	Strong transcription	H9 Cell Line	embryonic stem cell
46	chr3:48444600-48465800	Strong transcription	Fetal Stomach	stomach
47	chr3:48444600-48466200	Strong transcription	Placenta Amnion	Placenta Amnion
48	chr3:48444800-48454200	Strong transcription	HMEC	breast
49	chr3:48444800-48454400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr3:48444800-48454600	Strong transcription	NHEK	skin

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