Variant report

Variant	rs1256501
Chromosome Location	chr14:65724107-65724108
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65708389..65714331-chr14:65715596..65724154,17	MCF-7	breast:
2	chr14:65702798..65707565-chr14:65719899..65724349,7	MCF-7	breast:
3	chr14:65723600..65725474-chr14:65822150..65825144,2	MCF-7	breast:
4	chr14:65721766..65724259-chr14:65752829..65756528,3	MCF-7	breast:
5	chr14:65687724..65702236-chr14:65717995..65729217,67	MCF-7	breast:
6	chr14:65689123..65699940-chr14:65718655..65726829,32	MCF-7	breast:
7	chr14:65722509..65724711-chr14:65800142..65803387,3	MCF-7	breast:
8	chr14:65723281..65726603-chr14:65825964..65828012,3	MCF-7	breast:
9	chr14:65721905..65725444-chr14:65725472..65730269,4	MCF-7	breast:
10	chr14:65721681..65725033-chr14:65872611..65875727,3	MCF-7	breast:
11	chr14:65583698..65586091-chr14:65722041..65724216,2	MCF-7	breast:
12	chr14:65720143..65726834-chr14:65876571..65883583,24	MCF-7	breast:
13	chr14:65718344..65729728-chr14:65875413..65882756,31	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255002	Chromatin interaction
ENSG00000033170	Chromatin interaction
ENSG00000258878	Chromatin interaction
ENSG00000266740	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1256503	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12881339	1.00[JPT][hapmap]
rs2994424	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832817	chr14:65637069-65810406	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
2	nsv832818	chr14:65706859-65882320	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1256501	RAD51L1	cis	parietal	SCAN
rs1256501	RDH12	cis	cerebellum	SCAN
rs1256501	CHURC1	cis	parietal	SCAN
rs1256501	FAM71D	cis	parietal	SCAN

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65697200-65746800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:65714000-65735400	Weak transcription	Primary B cells from cord blood	blood
3	chr14:65718800-65725200	Enhancers	Placenta	Placenta
4	chr14:65720400-65725600	Enhancers	Fetal Intestine Large	intestine
5	chr14:65720600-65726000	Enhancers	HMEC	breast
6	chr14:65721600-65724400	Enhancers	Fetal Thymus	thymus
7	chr14:65721600-65725600	Enhancers	Stomach Mucosa	stomach
8	chr14:65721600-65727000	Enhancers	HUVEC	blood vessel
9	chr14:65722200-65726000	Enhancers	A549	lung
10	chr14:65722200-65728400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr14:65722400-65724200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr14:65722400-65724200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr14:65722400-65724200	Weak transcription	NHLF	lung
14	chr14:65722400-65724800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr14:65722400-65725000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr14:65722600-65724800	Enhancers	Placenta Amnion	Placenta Amnion
17	chr14:65722800-65724200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr14:65722800-65724200	Weak transcription	Esophagus	oesophagus
19	chr14:65722800-65724400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr14:65722800-65724400	Weak transcription	HSMM	muscle
21	chr14:65722800-65725000	Enhancers	Fetal Intestine Small	intestine
22	chr14:65723000-65724200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr14:65723200-65724200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr14:65723200-65724200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr14:65723200-65724200	Weak transcription	NH-A	brain
26	chr14:65723200-65724400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr14:65723200-65724400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr14:65723200-65724600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr14:65723200-65725000	Weak transcription	NHEK	skin
30	chr14:65723200-65726800	Weak transcription	Gastric	stomach
31	chr14:65723200-65727200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr14:65723400-65724400	Weak transcription	NHDF-Ad	bronchial
33	chr14:65723400-65724800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:65723400-65725600	Enhancers	HepG2	liver
35	chr14:65723400-65726000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr14:65723400-65726800	Weak transcription	Primary T cells from cord blood	blood
37	chr14:65723400-65727000	Enhancers	Hela-S3	cervix
38	chr14:65723600-65725800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr14:65724000-65724200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr14:65724000-65724400	Enhancers	H1 Cell Line	embryonic stem cell
41	chr14:65724000-65724400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr14:65724000-65725600	Enhancers	Osteobl	bone
43	chr14:65724000-65726200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr14:65724000-65728800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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