Variant report

Variant	rs1269715
Chromosome Location	chr8:103035545-103035546
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:103019479..103022018-chr8:103033247..103036105,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10105250	0.95[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.98[ASN][1000 genomes]
rs10505016	0.86[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs1269713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1269714	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1269716	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1351063	0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2187193	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2226768	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2387330	0.90[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2860153	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4734051	0.93[CHD][hapmap];0.88[ASN][1000 genomes]
rs4734610	0.90[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4734611	0.97[ASN][1000 genomes]
rs4734613	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6468808	0.88[ASN][1000 genomes]
rs7006931	0.88[ASN][1000 genomes]
rs7357558	0.95[ASN][1000 genomes]
rs7829974	0.89[ASN][1000 genomes]
rs7833943	0.90[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831411	chr8:102937991-103108140	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv891231	chr8:103001914-103076379	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv891232	chr8:103001914-103138045	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
4	nsv891233	chr8:103001914-103162638	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv891234	chr8:103020391-103113701	Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv891235	chr8:103032394-103162638	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1269715	NCALD	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103026400-103038800	Weak transcription	Right Ventricle	heart
2	chr8:103028800-103036400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:103030600-103037400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr8:103030600-103038600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr8:103030600-103045000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr8:103032000-103036800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:103033800-103037600	Enhancers	Ovary	ovary
8	chr8:103034000-103036200	Enhancers	Fetal Heart	heart
9	chr8:103034200-103036400	Enhancers	Fetal Muscle Leg	muscle
10	chr8:103034200-103037400	Enhancers	Fetal Stomach	stomach
11	chr8:103034400-103039000	Weak transcription	Lung	lung
12	chr8:103034600-103036000	Enhancers	Stomach Smooth Muscle	stomach
13	chr8:103034600-103036400	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr8:103034600-103037000	Enhancers	NHDF-Ad	bronchial
15	chr8:103034800-103035800	Weak transcription	Colon Smooth Muscle	Colon
16	chr8:103035000-103035600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:103035000-103036200	Enhancers	Psoas Muscle	Psoas
18	chr8:103035000-103037200	Enhancers	HSMMtube	muscle
19	chr8:103035000-103037400	Enhancers	Placenta	Placenta
20	chr8:103035000-103037600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:103035000-103037800	Enhancers	Aorta	Aorta
22	chr8:103035200-103036200	Enhancers	Left Ventricle	heart
23	chr8:103035200-103036400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr8:103035200-103037000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:103035400-103036400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr8:103035400-103036600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:103035400-103036600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr8:103035400-103036600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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