Variant report

Variant	rs4727512
Chromosome Location	chr7:101558899-101558900
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:101546835..101549246-chr7:101558183..101559730,2	MCF-7	breast:
2	chr7:101556253..101559058-chr7:101561053..101564216,4	K562	blood:
3	chr7:101554278..101556231-chr7:101557159..101559058,2	K562	blood:
4	chr7:101525862..101528715-chr7:101557017..101559763,2	MCF-7	breast:
5	chr7:101463126..101465910-chr7:101556638..101559361,3	K562	blood:
6	chr7:101542354..101543995-chr7:101557811..101560799,2	MCF-7	breast:
7	chr7:101557512..101560612-chr7:101577165..101580347,3	K562	blood:
8	chr7:101554624..101556999-chr7:101558630..101561050,2	MCF-7	breast:
9	chr7:101457026..101461124-chr7:101554455..101559051,6	MCF-7	breast:
10	chr7:101556089..101558949-chr7:101559230..101562198,4	K562	blood:
11	chr7:101463126..101464895-chr7:101557489..101559361,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257923	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10268506	1.00[CHB][hapmap]
rs10270083	0.86[MEX][hapmap];0.84[TSI][hapmap]
rs112513	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2906648	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs2906652	1.00[YRI][hapmap]
rs2906656	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970495	0.86[MEX][hapmap]
rs407366	1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[ASN][1000 genomes]
rs4236558	0.86[MEX][hapmap];0.84[TSI][hapmap]
rs4412307	0.82[CEU][hapmap]
rs445345	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs455130	1.00[ASN][1000 genomes]
rs73185829	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][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	nsv1024319	chr7:101368299-101668159	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv539047	chr7:101368299-101668159	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1020372	chr7:101420819-101718950	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv482846	chr7:101539981-101707666	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4727512	NAPEPLD	cis	parietal	SCAN
rs4727512	ARPC1B	cis	cerebellum	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101530600-101559800	Weak transcription	GM12878-XiMat	blood
2	chr7:101533800-101559000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:101537600-101559000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr7:101540200-101559200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:101540400-101559200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:101544000-101569800	Weak transcription	HMEC	breast
7	chr7:101544200-101559200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr7:101544200-101559400	Weak transcription	NHEK	skin
9	chr7:101544200-101579800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:101548800-101559400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr7:101551400-101559200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr7:101554800-101561400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:101555000-101559000	Weak transcription	Esophagus	oesophagus
14	chr7:101555000-101559000	Enhancers	Fetal Muscle Leg	muscle
15	chr7:101555000-101560200	Weak transcription	Hela-S3	cervix
16	chr7:101555200-101559400	Weak transcription	Gastric	stomach
17	chr7:101555400-101565600	Weak transcription	Stomach Mucosa	stomach
18	chr7:101555400-101567400	Weak transcription	HUVEC	blood vessel
19	chr7:101555600-101559200	Enhancers	Fetal Brain Female	brain
20	chr7:101555800-101559200	Weak transcription	Brain Substantia Nigra	brain
21	chr7:101555800-101559600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr7:101556000-101559200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr7:101556000-101559200	Weak transcription	HepG2	liver
24	chr7:101556000-101572600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr7:101556200-101559200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:101556200-101559600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr7:101556400-101559000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:101556400-101559000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr7:101556400-101559000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:101556400-101559000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr7:101556400-101559200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr7:101556400-101559200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr7:101556400-101559200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr7:101556400-101561200	Weak transcription	Fetal Kidney	kidney
35	chr7:101556400-101561400	Weak transcription	HSMM	muscle
36	chr7:101556400-101566800	Weak transcription	NHDF-Ad	bronchial
37	chr7:101556600-101559400	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr7:101556800-101559000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr7:101556800-101560600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr7:101557000-101559000	Weak transcription	Small Intestine	intestine
41	chr7:101557000-101559200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr7:101557200-101559000	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr7:101557200-101559800	Weak transcription	A549	lung
44	chr7:101557200-101565600	Weak transcription	NH-A	brain
45	chr7:101557400-101559000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr7:101557400-101559400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:101557400-101566000	Weak transcription	Aorta	Aorta
48	chr7:101557400-101566400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:101557400-101573600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr7:101557600-101559000	Weak transcription	NHLF	lung

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