Variant report

Variant	rs58487319
Chromosome Location	chr6:56513331-56513332
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:56503799..56506491-chr6:56512573..56514282,2	MCF-7	breast:
2	chr6:56502635..56504912-chr6:56512787..56514887,2	K562	blood:
3	chr6:56512469..56514117-chr6:56524237..56526260,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1024196	0.81[EUR][1000 genomes]
rs11966986	0.96[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11967796	0.96[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11970410	0.96[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs16888070	0.81[EUR][1000 genomes]
rs16888081	0.86[ASN][1000 genomes]
rs16888106	0.81[EUR][1000 genomes]
rs16888126	0.90[ASN][1000 genomes]
rs2144407	0.81[EUR][1000 genomes]
rs2180148	0.81[EUR][1000 genomes]
rs2207678	0.81[EUR][1000 genomes]
rs28633631	0.81[EUR][1000 genomes]
rs4074103	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs41267673	0.81[EUR][1000 genomes]
rs41271872	0.81[EUR][1000 genomes]
rs41271876	0.81[EUR][1000 genomes]
rs41271878	0.81[EUR][1000 genomes]
rs56991168	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57289287	0.96[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs57350484	0.81[EUR][1000 genomes]
rs57790896	0.81[EUR][1000 genomes]
rs58565063	0.81[EUR][1000 genomes]
rs59772940	0.94[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6459167	0.81[EUR][1000 genomes]
rs6459168	0.81[EUR][1000 genomes]
rs6900572	0.81[EUR][1000 genomes]
rs6903815	0.81[EUR][1000 genomes]
rs6941626	0.81[EUR][1000 genomes]
rs73455797	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73746926	0.81[EUR][1000 genomes]
rs73746929	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7749100	0.81[EUR][1000 genomes]
rs7759479	0.95[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7760503	0.96[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7760515	0.81[EUR][1000 genomes]
rs7760542	0.81[EUR][1000 genomes]
rs7760701	0.81[EUR][1000 genomes]
rs7761027	0.81[EUR][1000 genomes]
rs7775134	0.81[EUR][1000 genomes]

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	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS 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 lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv432888	chr6:56507489-56560764	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56417000-56516400	Weak transcription	Pancreas	Pancrea
2	chr6:56432800-56513600	Weak transcription	Small Intestine	intestine
3	chr6:56441000-56524800	Weak transcription	Colonic Mucosa	Colon
4	chr6:56451800-56514200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr6:56452200-56514600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:56459000-56521000	Weak transcription	Spleen	Spleen
7	chr6:56460600-56513600	Weak transcription	Stomach Mucosa	stomach
8	chr6:56478400-56514600	Weak transcription	Lung	lung
9	chr6:56480600-56514600	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr6:56480800-56536400	Weak transcription	Gastric	stomach
11	chr6:56482000-56518200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:56485000-56514400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr6:56490000-56513600	Strong transcription	Fetal Intestine Large	intestine
14	chr6:56491600-56536600	Weak transcription	Fetal Brain Female	brain
15	chr6:56496600-56517000	Weak transcription	Fetal Brain Male	brain
16	chr6:56496800-56515000	Weak transcription	Fetal Kidney	kidney
17	chr6:56497800-56524800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:56499400-56516800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:56500600-56514200	Weak transcription	Fetal Heart	heart
20	chr6:56501800-56524600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:56505400-56514600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr6:56505600-56522000	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr6:56505600-56537400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr6:56506000-56516000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr6:56507400-56515800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:56507800-56514400	Weak transcription	Aorta	Aorta
27	chr6:56508200-56514000	Weak transcription	Hela-S3	cervix
28	chr6:56508200-56514600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr6:56508200-56520000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr6:56508800-56513800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr6:56508800-56514200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:56508800-56514600	Strong transcription	HSMMtube	muscle
33	chr6:56508800-56517000	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr6:56509000-56513600	Strong transcription	Fetal Lung	lung
35	chr6:56509000-56514200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr6:56509000-56514800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:56509200-56514200	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr6:56509200-56514400	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr6:56509200-56514600	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr6:56509200-56515400	Strong transcription	GM12878-XiMat	blood
41	chr6:56509400-56513400	Strong transcription	Adipose Nuclei	Adipose
42	chr6:56509400-56513400	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr6:56509400-56513800	Strong transcription	NHLF	lung
44	chr6:56509400-56514000	Strong transcription	Fetal Muscle Trunk	muscle
45	chr6:56509400-56514200	Strong transcription	Liver	Liver
46	chr6:56509400-56516600	Strong transcription	HSMM	muscle
47	chr6:56509600-56513800	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr6:56509600-56513800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr6:56509600-56514200	Strong transcription	Osteobl	bone
50	chr6:56509600-56514600	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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