Variant report

Variant	rs7587478
Chromosome Location	chr2:47618678-47618679
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	chr2:47616275..47618696-chr2:47625513..47627242,2	MCF-7	breast:
2	chr2:47616200..47619082-chr2:47621954..47624826,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10173799	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10179950	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1126497	0.81[ASW][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11686285	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12992458	0.80[AMR][1000 genomes]
rs12999725	0.89[ASW][hapmap];0.83[TSI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13025976	0.83[CHB][hapmap]
rs1863333	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2162122	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2303426	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3815865	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3923559	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];0.91[TSI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3924917	0.87[GIH][hapmap]
rs4073491	0.81[AMR][1000 genomes]
rs4952885	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62139705	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6544987	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6757310	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71399026	0.83[AMR][1000 genomes]
rs7587654	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS 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	144 gene(s)	inside rSNPs	diseases
3	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv1009586	chr2:47552706-47621487	Strong transcription Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47597200-47619800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:47597400-47629400	Weak transcription	NHEK	skin
3	chr2:47601200-47629400	Weak transcription	Stomach Mucosa	stomach
4	chr2:47603200-47619000	Weak transcription	K562	blood
5	chr2:47604800-47628800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:47605200-47629000	Weak transcription	Brain Germinal Matrix	brain
7	chr2:47607800-47624000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:47608000-47629000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:47609200-47619600	Strong transcription	Fetal Intestine Large	intestine
10	chr2:47609800-47618800	Weak transcription	Pancreas	Pancrea
11	chr2:47609800-47619600	Weak transcription	Gastric	stomach
12	chr2:47609800-47629200	Weak transcription	Fetal Stomach	stomach
13	chr2:47611800-47619400	Strong transcription	Rectal Mucosa Donor 31	rectum
14	chr2:47612000-47629000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:47613400-47619200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:47613800-47620800	Weak transcription	Fetal Kidney	kidney
17	chr2:47614000-47620400	Strong transcription	Fetal Intestine Small	intestine
18	chr2:47614000-47620800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr2:47614200-47628800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:47615000-47619200	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr2:47615600-47619400	Strong transcription	Duodenum Mucosa	Duodenum
22	chr2:47615600-47629400	Weak transcription	Colonic Mucosa	Colon
23	chr2:47616200-47623400	Weak transcription	HepG2	liver
24	chr2:47616800-47629200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr2:47617000-47629400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:47617200-47628800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr2:47617200-47629000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:47617400-47629600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:47617800-47619400	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr2:47618200-47619400	Strong transcription	HUES48 Cell Line	embryonic stem cell

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