Variant report

Variant	rs73979511
Chromosome Location	chr2:178535642-178535643
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178533626..178535228-chr2:178535564..178538374,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs16865476	1.00[AMR][1000 genomes]
rs4555380	1.00[AMR][1000 genomes]
rs6712307	1.00[AMR][1000 genomes]
rs73977672	1.00[AMR][1000 genomes]
rs73977675	1.00[AMR][1000 genomes]
rs73977677	1.00[AMR][1000 genomes]
rs73977679	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977684	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977685	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977693	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977698	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977699	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7559596	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7575717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv583688	chr2:178427640-178540293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv431812	chr2:178525371-178584470	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178531400-178535800	Weak transcription	GM12878-XiMat	blood
2	chr2:178531400-178540000	Weak transcription	K562	blood
3	chr2:178532800-178537000	Enhancers	Fetal Kidney	kidney
4	chr2:178532800-178538000	Weak transcription	HSMM	muscle
5	chr2:178533400-178535800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:178533800-178536600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
7	chr2:178533800-178536600	Enhancers	Dnd41	blood
8	chr2:178534000-178537200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:178534200-178537000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:178534400-178537400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
11	chr2:178534800-178536000	Enhancers	Psoas Muscle	Psoas
12	chr2:178534800-178536200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:178534800-178536200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr2:178534800-178537000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:178534800-178537000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:178534800-178537200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
17	chr2:178535000-178535800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr2:178535000-178536000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr2:178535000-178544800	Weak transcription	Right Atrium	heart
20	chr2:178535200-178535800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
21	chr2:178535200-178536200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
22	chr2:178535200-178536800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
23	chr2:178535400-178536200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:178535400-178536200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:178535400-178540000	Weak transcription	Liver	Liver
26	chr2:178535600-178535800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
27	chr2:178535600-178535800	Enhancers	Left Ventricle	heart
28	chr2:178535600-178536000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
29	chr2:178535600-178536000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
30	chr2:178535600-178536000	Enhancers	Brain Substantia Nigra	brain
31	chr2:178535600-178536200	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr2:178535600-178536600	Enhancers	Fetal Muscle Leg	muscle
33	chr2:178535600-178536800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:178535600-178537000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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