Variant report

Variant	rs8030570
Chromosome Location	chr15:56514837-56514838
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:56514134..56517478-chr15:56536032..56539404,3	K562	blood:
2	chr15:56500425..56503148-chr15:56514379..56516558,2	K562	blood:
3	chr15:56511715..56515864-chr15:56532488..56536636,4	MCF-7	breast:
4	chr15:56512622..56516382-chr15:56518362..56521999,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RFX7-1	chr15:56514392-56516403	ucscGeneNc_uc002afb_1

Variant related genes	Relation type
ENSG00000181827	Chromatin interaction
ENSG00000151575	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10851602	1.00[AMR][1000 genomes]
rs1372751	1.00[AMR][1000 genomes]
rs2034019	1.00[AMR][1000 genomes]
rs2584688	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2713942	1.00[AMR][1000 genomes]
rs4774234	1.00[AMR][1000 genomes]
rs4774846	1.00[AMR][1000 genomes]
rs55968075	1.00[AMR][1000 genomes]
rs56824866	1.00[AMR][1000 genomes]
rs58771650	1.00[AMR][1000 genomes]
rs61181469	1.00[AMR][1000 genomes]
rs7178214	1.00[AMR][1000 genomes]
rs73411509	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411519	1.00[AMR][1000 genomes]
rs73411525	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411529	1.00[AMR][1000 genomes]
rs73413930	1.00[AMR][1000 genomes]
rs73413935	1.00[AMR][1000 genomes]
rs73413939	1.00[AMR][1000 genomes]
rs73413960	1.00[AMR][1000 genomes]
rs73413962	1.00[AMR][1000 genomes]
rs73413974	1.00[AMR][1000 genomes]
rs73413982	1.00[AMR][1000 genomes]
rs8025379	1.00[AMR][1000 genomes]
rs8032923	1.00[AMR][1000 genomes]
rs8036425	1.00[AMR][1000 genomes]
rs8042687	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833019	chr15:56486029-56649933	Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv569547	chr15:56504598-56572176	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv2760380	chr15:56510123-56529955	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56453600-56515000	Weak transcription	NHLF	lung
2	chr15:56480200-56515400	Weak transcription	Hela-S3	cervix
3	chr15:56485600-56521200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr15:56493200-56515400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr15:56496600-56515200	Weak transcription	Left Ventricle	heart
6	chr15:56498400-56515200	Weak transcription	HUVEC	blood vessel
7	chr15:56500600-56515200	Weak transcription	Ovary	ovary
8	chr15:56500800-56515200	Weak transcription	Thymus	Thymus
9	chr15:56504200-56515200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr15:56504800-56515200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr15:56505000-56515200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr15:56508000-56534400	Weak transcription	Fetal Heart	heart
13	chr15:56508200-56515400	Weak transcription	Fetal Thymus	thymus
14	chr15:56508200-56524000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr15:56508400-56515200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr15:56508400-56523000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr15:56508800-56515000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr15:56508800-56515200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr15:56509000-56533600	Weak transcription	Osteobl	bone
20	chr15:56509800-56522400	Weak transcription	Fetal Brain Male	brain
21	chr15:56510200-56523200	Weak transcription	NH-A	brain
22	chr15:56510600-56518000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
23	chr15:56510600-56528600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr15:56510800-56517800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr15:56512200-56515400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr15:56512200-56519600	Weak transcription	HSMM	muscle
27	chr15:56512400-56515400	Weak transcription	Aorta	Aorta
28	chr15:56513800-56515600	ZNF genes & repeats	Primary B cells from cord blood	blood
29	chr15:56513800-56517000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
30	chr15:56513800-56523800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr15:56513800-56530200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
32	chr15:56514000-56515800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr15:56514000-56515800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
34	chr15:56514000-56535000	Weak transcription	Pancreas	Pancrea
35	chr15:56514200-56515400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr15:56514200-56515800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
37	chr15:56514400-56515600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr15:56514400-56515600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr15:56514400-56515800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
40	chr15:56514400-56515800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
41	chr15:56514400-56515800	ZNF genes & repeats	HepG2	liver
42	chr15:56514400-56515800	ZNF genes & repeats	NHEK	skin
43	chr15:56514400-56516000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
44	chr15:56514400-56516000	ZNF genes & repeats	A549	lung
45	chr15:56514600-56515000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
46	chr15:56514600-56515200	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr15:56514600-56515400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr15:56514600-56515800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr15:56514600-56515800	ZNF genes & repeats	Liver	Liver
50	chr15:56514600-56516200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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