Variant report

Variant	rs330989
Chromosome Location	chr18:30129284-30129285
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11873022	1.00[JPT][hapmap]
rs12150800	0.94[EUR][1000 genomes]
rs16963525	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs16963530	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs16963537	0.93[EUR][1000 genomes]
rs28601283	0.94[EUR][1000 genomes]
rs28690106	0.93[EUR][1000 genomes]
rs4799649	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs4799650	1.00[EUR][1000 genomes]
rs72941784	0.93[EUR][1000 genomes]
rs72941789	0.92[EUR][1000 genomes]
rs72941793	0.94[EUR][1000 genomes]
rs9964350	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][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	nsv909524	chr18:30115418-30196804	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv909525	chr18:30115418-30215056	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv909526	chr18:30124311-30259109	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1066906	chr18:30125366-30192567	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv543676	chr18:30125366-30192567	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:30122600-30133200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr18:30128000-30130200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr18:30128200-30129800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr18:30128200-30130000	Enhancers	H1 Cell Line	embryonic stem cell
5	chr18:30128400-30129400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr18:30128400-30129800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr18:30128600-30130000	Enhancers	Fetal Brain Male	brain
8	chr18:30128600-30130200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr18:30128800-30131000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr18:30128800-30133000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr18:30129000-30129800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr18:30129000-30129800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr18:30129000-30129800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr18:30129000-30131000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr18:30129000-30131200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr18:30129000-30132400	Weak transcription	Stomach Mucosa	stomach
17	chr18:30129000-30133600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr18:30129200-30130200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr18:30129200-30132800	Weak transcription	Fetal Intestine Small	intestine

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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