Variant report

Variant	rs330984
Chromosome Location	chr18:30131131-30131132
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29737731..29738647-chr18:30131030..30131759,2	MCF-7	breast:
2	chr18:30124765..30126879-chr18:30130825..30132479,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2555475	0.85[AFR][1000 genomes]
rs330980	0.85[AFR][1000 genomes]
rs330988	1.00[MEX][hapmap];0.85[AFR][1000 genomes]
rs4464153	1.00[AMR][1000 genomes]
rs6506973	1.00[AMR][1000 genomes]
rs6506975	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv431976	chr18:30129553-30194102	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 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	chr18:30128800-30133000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr18:30129000-30131200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr18:30129000-30132400	Weak transcription	Stomach Mucosa	stomach
5	chr18:30129000-30133600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr18:30129200-30132800	Weak transcription	Fetal Intestine Small	intestine
7	chr18:30130200-30131600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr18:30130400-30131200	Enhancers	Fetal Brain Male	brain
9	chr18:30130600-30131600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr18:30130600-30131800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr18:30130800-30131200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr18:30130800-30131200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr18:30130800-30131200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr18:30130800-30131400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr18:30130800-30131800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr18:30130800-30131800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr18:30131000-30131200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr18:30131000-30131200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
19	chr18:30131000-30131400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr18:30131000-30131800	Enhancers	H1 Cell Line	embryonic stem cell
21	chr18:30131000-30131800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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