Variant report

Variant	rs748780
Chromosome Location	chr2:47763895-47763896
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:47756167..47758928-chr2:47763518..47766508,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10197011	0.80[AMR][1000 genomes]
rs10495945	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11896864	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17502941	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3771274	0.95[MEX][hapmap]
rs6544990	0.84[ASW][hapmap]
rs6544994	0.94[ASN][1000 genomes]
rs6722911	0.84[CHB][hapmap]
rs7572456	0.87[ASN][1000 genomes]
rs7575486	0.94[ASN][1000 genomes]
rs876936	0.86[MEX][hapmap]

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	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv998314	chr2:47720420-47959168	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv817599	chr2:47738456-47961099	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47743600-47778200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:47748800-47772800	Weak transcription	Gastric	stomach
3	chr2:47749000-47771000	Weak transcription	Ovary	ovary
4	chr2:47756400-47771400	Weak transcription	Brain Germinal Matrix	brain
5	chr2:47757600-47772400	Weak transcription	Right Atrium	heart
6	chr2:47760600-47764400	Enhancers	NHLF	lung
7	chr2:47760800-47764000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr2:47760800-47764400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:47761400-47764400	Enhancers	Osteobl	bone
10	chr2:47761400-47768800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:47761600-47768200	Weak transcription	Fetal Stomach	stomach
12	chr2:47762000-47770200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:47762000-47778400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr2:47762000-47784800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:47762200-47767000	Weak transcription	K562	blood
16	chr2:47762400-47764400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:47762400-47766600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:47762600-47770400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:47762800-47770200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr2:47762800-47778800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:47763000-47764200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:47763000-47764400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:47763400-47765000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:47763400-47770000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:47763600-47768200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:47763800-47764000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:47763800-47785400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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