Variant report

Variant	rs1343630
Chromosome Location	chr1:114105855-114105856
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10858003	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10858006	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11102667	0.83[ASN][1000 genomes]
rs1146183	0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1146184	0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1146185	0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12026423	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1217194	0.83[ASN][1000 genomes]
rs1217202	0.94[ASN][1000 genomes]
rs1217212	0.92[ASN][1000 genomes]
rs1217224	0.92[ASN][1000 genomes]
rs1217225	0.86[YRI][hapmap]
rs1217229	0.94[ASN][1000 genomes]
rs1217231	0.88[YRI][hapmap]
rs1217238	0.92[ASN][1000 genomes]
rs1230673	0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.83[ASN][1000 genomes]
rs1235000	0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.94[ASN][1000 genomes]
rs1237290	0.94[ASN][1000 genomes]
rs13524	0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[ASN][1000 genomes]
rs1624335	0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[ASN][1000 genomes]
rs1743594	1.00[JPT][hapmap];0.87[YRI][hapmap];0.83[ASN][1000 genomes]
rs1743595	0.84[ASN][1000 genomes]
rs1777239	0.88[ASN][1000 genomes]
rs2636003	0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.83[ASN][1000 genomes]
rs2798137	0.86[ASN][1000 genomes]
rs7518766	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7543121	0.80[ASN][1000 genomes]
rs9429525	0.88[ASN][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	nsv437013	chr1:114065955-114129092	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv947128	chr1:114088844-114122533	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114083400-114110000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr1:114088600-114109800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:114094800-114138400	Weak transcription	NHDF-Ad	bronchial
4	chr1:114095600-114108200	Weak transcription	Primary T cells from cord blood	blood
5	chr1:114096400-114108800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr1:114098600-114106600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:114100200-114127600	Weak transcription	Ovary	ovary
8	chr1:114100600-114106000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:114100600-114106600	Weak transcription	Aorta	Aorta
10	chr1:114100600-114107600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr1:114100600-114108200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:114100600-114108800	Weak transcription	Fetal Lung	lung
13	chr1:114100600-114112600	Weak transcription	Esophagus	oesophagus
14	chr1:114100600-114118200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:114100600-114118600	Weak transcription	Lung	lung
16	chr1:114100600-114118800	Weak transcription	Pancreas	Pancrea
17	chr1:114100600-114140200	Weak transcription	Left Ventricle	heart
18	chr1:114100600-114173400	Weak transcription	Gastric	stomach
19	chr1:114100800-114109600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr1:114101000-114112600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:114102800-114107800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:114105600-114109600	Weak transcription	Right Ventricle	heart

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