Variant report

Variant	rs4492357
Chromosome Location	chr8:124937087-124937088
allele	G/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:14)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:124936523..124937593-chr8:125042310..125043251,3	MCF-7	breast:
2	chr8:124936624..124937570-chr8:125452317..125453197,2	MCF-7	breast:
3	chr8:124936630..124937556-chr8:125452696..125453272,2	MCF-7	breast:
4	chr8:124936587..124937523-chr8:125018562..125019630,6	MCF-7	breast:
5	chr8:124934852..124937473-chr8:124945543..124947894,2	K562	blood:
6	chr8:124936424..124937127-chr8:125049695..125050484,2	MCF-7	breast:
7	chr8:124835624..124840070-chr8:124931025..124937507,8	MCF-7	breast:
8	chr8:124936621..124937399-chr8:125022189..125023311,6	MCF-7	breast:
9	chr8:124936483..124937594-chr8:125017986..125019533,17	MCF-7	breast:
10	chr8:124936696..124937514-chr8:125437550..125438454,2	MCF-7	breast:
11	chr8:124936640..124937564-chr8:125437980..125438905,3	MCF-7	breast:
12	chr8:124937009..124937593-chr8:124991513..124992198,2	MCF-7	breast:
13	chr8:124936586..124937490-chr8:125244653..125245170,2	K562	blood:
14	chr8:124935254..124937555-chr8:124966756..124968596,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANXA13-1	chr8:124936999-124937116	ENSG00000254000

No data

Variant related genes	Relation type
ENSG00000214814	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1007106	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11987138	0.87[JPT][hapmap]
rs11993828	0.96[CHB][hapmap];0.87[JPT][hapmap];0.92[ASN][1000 genomes]
rs13250190	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13260673	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13267281	0.92[ASN][1000 genomes]
rs13268486	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13268977	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13277597	0.86[JPT][hapmap]
rs16893054	0.86[JPT][hapmap]
rs16899027	0.82[JPT][hapmap]
rs16899029	0.86[JPT][hapmap]
rs16899052	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16899082	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16899083	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34273310	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35365805	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35856179	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36044469	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4242349	0.80[CEU][hapmap]
rs4242350	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4242351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4285467	0.92[CHB][hapmap];0.87[JPT][hapmap];0.92[ASN][1000 genomes]
rs4285468	0.91[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs4299983	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4299984	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4355755	0.91[JPT][hapmap]
rs4410887	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4413758	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4428656	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4472497	0.92[CHB][hapmap];0.87[JPT][hapmap];0.93[ASN][1000 genomes]
rs4478556	0.91[CHB][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs4512365	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4537289	0.91[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs4587311	0.91[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs4587312	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4590427	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4596635	0.91[JPT][hapmap]
rs4870875	0.86[JPT][hapmap]
rs4870878	0.92[ASN][1000 genomes]
rs4870879	0.91[CHB][hapmap];0.87[JPT][hapmap];0.92[ASN][1000 genomes]
rs4871421	0.87[JPT][hapmap]
rs4871422	0.87[JPT][hapmap]
rs4871424	0.91[JPT][hapmap]
rs4871425	0.91[JPT][hapmap]
rs4871426	0.91[JPT][hapmap]
rs4871428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871429	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871430	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871431	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871432	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871433	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871434	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4871435	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871436	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871437	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871439	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55653196	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57615673	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59381180	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62518695	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62518696	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62518727	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62518728	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6981056	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs6981229	0.82[CHB][hapmap]
rs6982351	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6984557	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72709124	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7464664	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7821233	0.86[JPT][hapmap]
rs7826291	0.92[CHB][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs7837892	0.87[JPT][hapmap]
rs7838437	0.90[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs7838453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7838473	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7839327	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7842762	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033617	chr8:124895516-125012783	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1035035	chr8:124895516-125020472	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv612141	chr8:124895809-125006490	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv612142	chr8:124896389-125006490	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv612143	chr8:124927711-124988267	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124934800-124937400	Weak transcription	Brain Germinal Matrix	brain
2	chr8:124934800-124938200	Enhancers	Fetal Muscle Leg	muscle
3	chr8:124934800-124938600	Weak transcription	Left Ventricle	heart
4	chr8:124934800-124939000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr8:124934800-124939600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:124935000-124937400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:124935000-124938600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:124935200-124937200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:124935200-124937400	Weak transcription	NHLF	lung
10	chr8:124935200-124938800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:124935400-124937800	Weak transcription	Stomach Mucosa	stomach
12	chr8:124935400-124938200	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr8:124935400-124938200	Weak transcription	Placenta	Placenta
14	chr8:124935400-124938600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr8:124935400-124942800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr8:124935800-124939200	Weak transcription	Fetal Intestine Small	intestine
17	chr8:124936600-124938400	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr8:124936800-124937800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:124936800-124937800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:124936800-124937800	Enhancers	K562	blood
21	chr8:124936800-124938000	Enhancers	Osteobl	bone
22	chr8:124936800-124940200	Enhancers	NHDF-Ad	bronchial
23	chr8:124937000-124937200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:124937000-124937200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr8:124937000-124937200	Enhancers	Fetal Heart	heart
26	chr8:124937000-124937200	Enhancers	Fetal Intestine Large	intestine
27	chr8:124937000-124937200	Enhancers	HSMM	muscle
28	chr8:124937000-124937400	Weak transcription	Liver	Liver
29	chr8:124937000-124938000	Enhancers	A549	lung
30	chr8:124937000-124938400	Enhancers	Primary hematopoietic stem cells	blood
31	chr8:124937000-124938600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:124937000-124938800	Enhancers	HUVEC	blood vessel

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