Variant report

Variant	rs1342928
Chromosome Location	chr1:151521673-151521674
allele	A/C
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151511607..151517154-chr1:151519761..151524773,6	K562	blood:
2	1:151516085-151535167..1:151592347-151603110	GM12878	blood:
3	chr1:151489014..151491832-chr1:151520153..151522189,2	MCF-7	breast:
4	chr1:151481542..151488437-chr1:151515636..151525415,14	MCF-7	breast:
5	chr1:151521243..151523958-chr1:151534794..151537419,2	MCF-7	breast:
6	chr1:151430069..151432862-chr1:151521024..151523772,3	MCF-7	breast:
7	chr1:151483462..151487382-chr1:151518217..151524477,9	MCF-7	breast:
8	1:151402394-151411623..1:151516085-151535167	GM12878	blood:
9	chr1:151520214..151522047-chr1:151540698..151542766,2	MCF-7	breast:
10	chr1:151511080..151515753-chr1:151520278..151524135,5	K562	blood:
11	chr1:151519770..151522144-chr1:151805041..151806645,2	MCF-7	breast:
12	chr1:151520439..151521960-chr1:151523867..151525775,2	K562	blood:
13	1:151171193-151178589..1:151516085-151535167	GM12878	blood:
14	chr1:151429392..151432679-chr1:151519688..151523512,7	MCF-7	breast:
15	chr1:151520240..151522190-chr1:151976261..151978118,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000206635	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000143398	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000238711	Chromatin interaction
ENSG00000143442	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10749664	1.00[AMR][1000 genomes]
rs11204831	0.83[AMR][1000 genomes]
rs1539491	0.83[AMR][1000 genomes]
rs2211436	0.83[AMR][1000 genomes]
rs4043745	0.83[AMR][1000 genomes]
rs4246523	0.83[AMR][1000 genomes]
rs4970915	0.83[AMR][1000 genomes]
rs4970917	0.83[AMR][1000 genomes]
rs4970959	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4970960	0.85[AMR][1000 genomes]
rs6587600	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7516311	0.85[AMR][1000 genomes]
rs9661205	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	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
2	nsv997511	chr1:151491765-151595902	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv522757	chr1:151520731-151521933	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151514400-151540800	Weak transcription	Brain Angular Gyrus	brain
2	chr1:151514400-151556800	Weak transcription	Fetal Brain Male	brain
3	chr1:151515400-151523400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:151515600-151534400	Weak transcription	Brain Germinal Matrix	brain
5	chr1:151517400-151522200	Enhancers	Placenta Amnion	Placenta Amnion
6	chr1:151517600-151523400	Enhancers	Placenta	Placenta
7	chr1:151518200-151522200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:151518400-151522800	Enhancers	Fetal Intestine Large	intestine
9	chr1:151518600-151522000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:151519200-151522200	Flanking Active TSS	A549	lung
11	chr1:151519400-151521800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr1:151519400-151522000	Enhancers	Duodenum Mucosa	Duodenum
13	chr1:151519400-151522000	Enhancers	Pancreas	Pancrea
14	chr1:151519400-151522000	Enhancers	HUVEC	blood vessel
15	chr1:151519400-151522200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:151519400-151522200	Flanking Active TSS	Hela-S3	cervix
17	chr1:151519400-151522400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:151519400-151522400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:151519400-151522400	Enhancers	Stomach Mucosa	stomach
20	chr1:151519400-151522600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:151519400-151522800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:151519600-151522000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:151519600-151522400	Enhancers	Gastric	stomach
24	chr1:151519600-151522400	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr1:151519600-151524400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:151519800-151522000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:151520000-151522000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr1:151520000-151522000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:151520200-151522000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr1:151520200-151522200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr1:151520200-151524000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:151520200-151524600	Weak transcription	Right Atrium	heart
33	chr1:151520200-151534200	Weak transcription	Fetal Stomach	stomach
34	chr1:151520200-151536600	Weak transcription	Ovary	ovary
35	chr1:151520400-151522000	Enhancers	NHDF-Ad	bronchial
36	chr1:151520400-151522200	Enhancers	Muscle Satellite Cultured Cells	--
37	chr1:151520400-151522200	Enhancers	HSMM	muscle
38	chr1:151520400-151522200	Enhancers	NH-A	brain
39	chr1:151520400-151522600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:151520400-151522600	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr1:151520400-151534200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr1:151520400-151535800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr1:151520400-151536600	Weak transcription	Adipose Nuclei	Adipose
44	chr1:151520400-151536800	Weak transcription	Aorta	Aorta
45	chr1:151520600-151521800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:151520600-151522200	Enhancers	NHLF	lung
47	chr1:151520600-151522600	Enhancers	HMEC	breast
48	chr1:151520600-151522800	Enhancers	HepG2	liver
49	chr1:151520600-151536000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:151520600-151536800	Weak transcription	Lung	lung

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