Variant report

Variant	rs1823197
Chromosome Location	chr4:30848623-30848624
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10025293	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10027054	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10517216	0.91[JPT][hapmap]
rs11721555	0.91[JPT][hapmap]
rs11946238	0.87[CEU][hapmap];0.91[JPT][hapmap];0.84[EUR][1000 genomes]
rs12509289	1.00[CEU][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12513276	0.86[EUR][1000 genomes]
rs13135261	0.91[JPT][hapmap]
rs13145415	0.86[CEU][hapmap];0.81[TSI][hapmap]
rs1345147	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1374650	0.87[CEU][hapmap];0.80[CHD][hapmap];0.96[GIH][hapmap];0.92[JPT][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes]
rs1374652	0.91[JPT][hapmap]
rs1374654	0.83[EUR][1000 genomes]
rs1447371	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16884042	0.91[JPT][hapmap]
rs16884163	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1823196	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1900571	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2121656	1.00[CEU][hapmap];0.92[JPT][hapmap];0.89[EUR][1000 genomes]
rs2121659	0.91[JPT][hapmap]
rs34211313	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6810526	0.91[JPT][hapmap]
rs6811850	0.90[JPT][hapmap]
rs6819990	0.91[JPT][hapmap]
rs6842641	0.85[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6842866	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6844742	0.86[CEU][hapmap];0.87[JPT][hapmap];0.84[EUR][1000 genomes]
rs7682792	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs958274	1.00[CEU][hapmap];0.82[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];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	nsv878810	chr4:30823157-30987395	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv998450	chr4:30823631-31628179	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:30841400-30849800	Weak transcription	Colon Smooth Muscle	Colon
2	chr4:30842000-30854400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:30842400-30849000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:30842400-30855200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr4:30842600-30854600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr4:30842600-30855800	Weak transcription	Aorta	Aorta
7	chr4:30844400-30850200	Weak transcription	Fetal Heart	heart
8	chr4:30846600-30855000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr4:30846800-30854600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:30847000-30851000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:30848200-30849200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:30848200-30849200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr4:30848200-30851200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr4:30848400-30849200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:30848400-30849200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr4:30848400-30849200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:30848400-30849200	Enhancers	Fetal Muscle Leg	muscle
18	chr4:30848400-30849400	Enhancers	Fetal Lung	lung
19	chr4:30848400-30849400	Enhancers	Fetal Stomach	stomach
20	chr4:30848400-30850400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr4:30848400-30850600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr4:30848600-30849200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:30848600-30851400	Enhancers	Stomach Smooth Muscle	stomach

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