Variant report

Variant	rs58807639
Chromosome Location	chr3:51409644-51409645
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:51137383..51138350-chr3:51409536..51410333,3	MCF-7	breast:
2	chr3:51008103..51009082-chr3:51409134..51409784,2	K562	blood:
3	chr3:51306865..51307450-chr3:51409155..51410064,2	MCF-7	breast:
4	chr3:50653038..50654032-chr3:51409127..51409867,2	K562	blood:
5	chr3:51406871..51409726-chr3:51410883..51412893,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12487468	0.86[AFR][1000 genomes]
rs1480366	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17051685	1.00[AMR][1000 genomes]
rs17051799	1.00[ASN][1000 genomes]
rs17051802	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28653367	1.00[ASN][1000 genomes]
rs4280628	1.00[AMR][1000 genomes]
rs57019473	1.00[AMR][1000 genomes]
rs58075772	1.00[AMR][1000 genomes]
rs59307262	1.00[AMR][1000 genomes]
rs61452834	1.00[AMR][1000 genomes]
rs61578076	1.00[AMR][1000 genomes]
rs72943888	1.00[AMR][1000 genomes]
rs72945711	1.00[AMR][1000 genomes]
rs72945738	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72945741	1.00[AMR][1000 genomes]
rs72951454	1.00[AMR][1000 genomes]
rs72951466	1.00[AMR][1000 genomes]
rs72951469	1.00[AMR][1000 genomes]
rs72951474	1.00[AMR][1000 genomes]
rs72951478	1.00[AMR][1000 genomes]
rs72951489	1.00[AMR][1000 genomes]
rs72953404	1.00[AMR][1000 genomes]
rs72953419	1.00[AMR][1000 genomes]
rs753452	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs880477	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9827665	1.00[ASN][1000 genomes]
rs9840331	1.00[ASN][1000 genomes]
rs9858497	1.00[ASN][1000 genomes]
rs9864213	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005858	chr3:51090373-51444027	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv536569	chr3:51090373-51444027	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1014464	chr3:51220151-51909780	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer 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	53 gene(s)	inside rSNPs	diseases
4	esv20206	chr3:51344873-51415825	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv460534	chr3:51393046-51416108	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv590274	chr3:51393046-51416108	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv460535	chr3:51395571-51416108	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv590275	chr3:51395571-51416108	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv460536	chr3:51395571-51469107	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv590276	chr3:51395571-51469107	Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv590277	chr3:51408051-51474418	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
12	nsv965166	chr3:51409145-51409645	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv822089	chr3:51409364-51410081	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv3333959	chr3:51409408-51410179	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51378600-51421000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr3:51378800-51421400	Weak transcription	Right Ventricle	heart
3	chr3:51379000-51414600	Weak transcription	Left Ventricle	heart
4	chr3:51384200-51420600	Weak transcription	Fetal Brain Male	brain
5	chr3:51392800-51418600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:51400600-51411400	Weak transcription	Brain Anterior Caudate	brain
7	chr3:51400800-51410800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr3:51400800-51411000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr3:51400800-51411400	Weak transcription	Brain Substantia Nigra	brain
10	chr3:51400800-51411400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr3:51400800-51412200	Weak transcription	HSMMtube	muscle
12	chr3:51401000-51411800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr3:51405800-51410400	Weak transcription	Brain Germinal Matrix	brain
14	chr3:51406000-51411200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:51406000-51411600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:51406000-51417000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:51406000-51420200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr3:51406000-51420400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr3:51406000-51420400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr3:51406000-51420600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr3:51406000-51420800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr3:51406000-51420800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr3:51406000-51421400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr3:51406200-51409800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:51406400-51411800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr3:51406400-51420600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr3:51406400-51421600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:51408200-51411200	Weak transcription	Fetal Brain Female	brain
29	chr3:51408600-51410000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr3:51408800-51411000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr3:51409000-51410800	Weak transcription	Brain Hippocampus Middle	brain
32	chr3:51409200-51410800	Weak transcription	Brain Angular Gyrus	brain
33	chr3:51409600-51409800	Enhancers	Adipose Nuclei	Adipose

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