Variant report

Variant	rs606473
Chromosome Location	chr1:196252159-196252160
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12060609	1.00[ASN][1000 genomes]
rs12067586	0.80[ASN][1000 genomes]
rs12071084	0.95[ASN][1000 genomes]
rs12082579	0.90[ASN][1000 genomes]
rs12092252	0.90[ASN][1000 genomes]
rs1325299	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1925337	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1998652	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2477556	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs558895	1.00[ASN][1000 genomes]
rs59729886	0.90[ASN][1000 genomes]
rs994454	0.95[ASN][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	nsv872952	chr1:196174790-196304223	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv548741	chr1:196186750-196293493	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv832237	chr1:196205674-196328500	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196234800-196252200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:196234800-196255400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr1:196237000-196253600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:196237200-196253800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:196240000-196252200	Weak transcription	Fetal Lung	lung
6	chr1:196243200-196253600	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:196244600-196272400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr1:196247400-196252400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr1:196248600-196252200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:196249200-196281400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:196250200-196254000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:196250600-196258400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:196250800-196252600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr1:196250800-196255400	Weak transcription	Ovary	ovary
15	chr1:196250800-196271600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:196251000-196271600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr1:196251800-196255600	Weak transcription	Liver	Liver
18	chr1:196251800-196261400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:196252000-196252400	ZNF genes & repeats	Fetal Stomach	stomach

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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