Variant report

Variant	rs6493418
Chromosome Location	chr15:50514575-50514576
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:50473021..50475909-chr15:50514369..50517198,2	MCF-7	breast:
2	chr15:50514272..50515874-chr15:50516020..50517695,2	MCF-7	breast:
3	chr15:50513432..50516110-chr15:50646563..50649335,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104043	Chromatin interaction
ENSG00000140284	Chromatin interaction
ENSG00000244879	Chromatin interaction
ENSG00000104064	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1529341	1.00[CEU][hapmap]
rs1529343	1.00[CEU][hapmap]
rs1529344	1.00[CEU][hapmap]
rs1549521	1.00[CEU][hapmap]
rs1648347	0.85[AMR][1000 genomes]
rs16963514	0.82[YRI][hapmap]
rs16963517	1.00[CEU][hapmap];0.82[YRI][hapmap]
rs17507157	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1863510	1.00[AMR][1000 genomes]
rs2073440	1.00[CEU][hapmap]
rs2081629	1.00[CEU][hapmap]
rs28419107	1.00[AMR][1000 genomes]
rs28545814	0.85[AMR][1000 genomes]
rs28589332	1.00[AMR][1000 genomes]
rs28626417	0.85[AMR][1000 genomes]
rs28689603	0.85[AMR][1000 genomes]
rs28726225	0.85[AMR][1000 genomes]
rs28883893	0.85[AMR][1000 genomes]
rs7170583	0.85[AMR][1000 genomes]
rs7171600	1.00[AMR][1000 genomes]
rs8032032	0.85[AMR][1000 genomes]
rs8040505	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs8042671	0.83[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1035983	chr15:50223334-50595170	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv542382	chr15:50223334-50595170	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50498000-50515200	Weak transcription	K562	blood
2	chr15:50503600-50515600	Weak transcription	A549	lung
3	chr15:50503600-50519800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr15:50503600-50539800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr15:50503800-50515000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr15:50508000-50515000	Weak transcription	HepG2	liver
7	chr15:50508000-50539800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr15:50511800-50525400	Strong transcription	Hela-S3	cervix
9	chr15:50512000-50519200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr15:50512400-50515000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr15:50512800-50530000	Weak transcription	Colonic Mucosa	Colon
12	chr15:50513600-50516200	Weak transcription	Fetal Intestine Small	intestine
13	chr15:50513800-50514600	Weak transcription	Liver	Liver
14	chr15:50513800-50515400	Weak transcription	Fetal Intestine Large	intestine
15	chr15:50513800-50525200	Weak transcription	Stomach Mucosa	stomach
16	chr15:50513800-50525400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr15:50514000-50518200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr15:50514000-50524600	Weak transcription	Primary B cells from cord blood	blood
19	chr15:50514000-50531600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr15:50514200-50515400	Enhancers	HSMMtube	muscle
21	chr15:50514200-50516200	Enhancers	HSMM	muscle
22	chr15:50514400-50517000	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr15:50514400-50519400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr15:50514400-50530200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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