Variant report

Variant	rs7180620
Chromosome Location	chr15:59949350-59949351
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:59680945..59682711-chr15:59948219..59950781,2	MCF-7	breast:
2	chr15:59949095..59949897-chr19:18668526..18669110,2	Hela-S3	cervix:
3	chr15:59948214..59950768-chr15:59963899..59966386,2	K562	blood:
4	chr15:59947605..59950537-chr15:59979625..59981765,3	MCF-7	breast:
5	chr15:59945879..59953077-chr15:59978622..59984049,13	K562	blood:
6	chr15:59946363..59951356-chr15:59979923..59984049,7	K562	blood:

Variant related genes	Relation type
ENSG00000238767	Chromatin interaction
ENSG00000140299	Chromatin interaction
ENSG00000227161	Chromatin interaction
ENSG00000105700	Chromatin interaction
ENSG00000259238	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10851661	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10851662	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10851663	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11071463	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11071464	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12101518	1.00[AMR][1000 genomes]
rs12101627	1.00[AMR][1000 genomes]
rs16941555	1.00[AMR][1000 genomes]
rs16941810	1.00[AMR][1000 genomes]
rs1871498	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2307274	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4775196	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6151431	1.00[AMR][1000 genomes]
rs6151435	1.00[AMR][1000 genomes]
rs6151476	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6151537	1.00[AMR][1000 genomes]
rs6151550	1.00[AMR][1000 genomes]
rs6151587	0.93[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6494134	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7162788	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7180507	1.00[AMR][1000 genomes]
rs74019651	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8039996	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8041511	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9806322	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1044442	chr15:59765724-59955587	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv542403	chr15:59765724-59955587	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv569605	chr15:59855226-59956553	Strong transcription Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv533240	chr15:59858093-59998176	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	esv1824522	chr15:59919844-59987181	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats 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	27 gene(s)	inside rSNPs	diseases
7	nsv1043693	chr15:59944471-59971500	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59947600-59950000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr15:59947600-59950200	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr15:59947600-59950200	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr15:59947600-59950400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr15:59947800-59949800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr15:59947800-59950200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr15:59948000-59949800	Active TSS	H9 Cell Line	embryonic stem cell
8	chr15:59948200-59949400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr15:59948200-59950000	Active TSS	HSMM	muscle
10	chr15:59948200-59950200	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr15:59948200-59950200	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr15:59948400-59949400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr15:59948400-59950000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr15:59948400-59950000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr15:59948400-59950000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr15:59948400-59950200	Active TSS	H1 Cell Line	embryonic stem cell
17	chr15:59948400-59950200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr15:59948400-59950200	Active TSS	Fetal Kidney	kidney
19	chr15:59948400-59950400	Active TSS	Right Atrium	heart
20	chr15:59948600-59949400	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr15:59948600-59949600	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr15:59948600-59949800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr15:59948600-59949800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr15:59948600-59949800	Active TSS	Fetal Muscle Trunk	muscle
25	chr15:59948600-59950000	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr15:59948600-59950000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr15:59948600-59950000	Active TSS	Brain Angular Gyrus	brain
28	chr15:59948600-59950200	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr15:59948600-59950200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr15:59948600-59950200	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr15:59948600-59950200	Active TSS	Right Ventricle	heart
32	chr15:59948600-59950200	Active TSS	GM12878-XiMat	blood
33	chr15:59948600-59950200	Active TSS	HSMMtube	muscle
34	chr15:59948600-59950200	Active TSS	NHDF-Ad	bronchial
35	chr15:59948600-59950200	Active TSS	NHLF	lung
36	chr15:59948600-59950400	Active TSS	Fetal Intestine Large	intestine
37	chr15:59948600-59950400	Active TSS	Psoas Muscle	Psoas
38	chr15:59948600-59950600	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr15:59948800-59949600	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr15:59948800-59949800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr15:59948800-59949800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr15:59948800-59949800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr15:59948800-59950000	Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr15:59948800-59950000	Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr15:59948800-59950000	Active TSS	Small Intestine	intestine
46	chr15:59948800-59950000	Active TSS	HMEC	breast
47	chr15:59948800-59950200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr15:59948800-59950200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr15:59948800-59950200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr15:59948800-59950200	Active TSS	Aorta	Aorta

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