Variant report

Variant	rs2300053
Chromosome Location	chr7:108089223-108089224
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:108087694..108090999-chr7:108091222..108094694,3	K562	blood:
2	chr7:108084971..108087877-chr7:108088105..108090258,2	K562	blood:
3	chr7:108089080..108090844-chr7:108114077..108117502,3	K562	blood:
4	chr7:108087694..108090660-chr7:108091222..108093377,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10230518	0.83[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10273997	0.85[CEU][hapmap];0.83[CHB][hapmap];0.84[EUR][1000 genomes]
rs10278246	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1034825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1034829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13221639	0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13244602	0.83[EUR][1000 genomes]
rs1473131	0.85[EUR][1000 genomes]
rs17339110	0.83[EUR][1000 genomes]
rs1859769	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1859771	0.85[EUR][1000 genomes]
rs1859772	0.86[CEU][hapmap];0.86[EUR][1000 genomes]
rs1859774	0.85[EUR][1000 genomes]
rs1859775	0.85[EUR][1000 genomes]
rs194585	0.82[CEU][hapmap];0.83[CHB][hapmap];0.83[EUR][1000 genomes]
rs194586	0.83[CEU][hapmap];0.84[CHB][hapmap];0.84[EUR][1000 genomes]
rs2214916	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2284290	0.91[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs2284291	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2284292	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2300043	0.86[JPT][hapmap]
rs2300049	0.86[JPT][hapmap]
rs2396001	0.85[CEU][hapmap];0.83[CHB][hapmap];0.82[EUR][1000 genomes]
rs3763462	0.89[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3815252	0.85[CEU][hapmap];0.83[CHB][hapmap];0.83[EUR][1000 genomes]
rs40846	0.84[EUR][1000 genomes]
rs40849	0.85[CEU][hapmap];0.83[CHB][hapmap];0.84[EUR][1000 genomes]
rs40856	0.85[CEU][hapmap];0.83[CHB][hapmap];0.82[EUR][1000 genomes]
rs40890	0.81[EUR][1000 genomes]
rs40903	0.86[CEU][hapmap];0.84[CHB][hapmap]
rs6466239	0.85[CEU][hapmap];0.83[CHB][hapmap];0.83[EUR][1000 genomes]
rs6466240	0.86[CEU][hapmap];0.84[CHB][hapmap];0.84[EUR][1000 genomes]
rs6966431	0.86[CEU][hapmap];0.84[CHB][hapmap];0.83[EUR][1000 genomes]
rs6976478	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs726471	0.89[CEU][hapmap];0.83[CHB][hapmap];0.86[JPT][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73426110	0.81[EUR][1000 genomes]
rs7800334	0.85[EUR][1000 genomes]
rs7806223	0.85[EUR][1000 genomes]
rs917251	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9640707	0.86[CEU][hapmap];0.84[CHB][hapmap];0.83[EUR][1000 genomes]
rs9785006	0.86[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108067800-108089400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:108068000-108089400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr7:108075800-108089400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:108076200-108094800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:108081600-108089800	Weak transcription	Brain Anterior Caudate	brain
6	chr7:108082800-108089400	Weak transcription	Brain Angular Gyrus	brain
7	chr7:108083400-108089400	Weak transcription	HUVEC	blood vessel
8	chr7:108084000-108089400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr7:108087800-108090000	Weak transcription	Brain Hippocampus Middle	brain
10	chr7:108088200-108089400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:108088200-108091800	Enhancers	A549	lung
12	chr7:108088400-108090200	Enhancers	Fetal Lung	lung
13	chr7:108088400-108090400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr7:108088600-108089400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:108088600-108090400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:108088800-108090200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:108088800-108090400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr7:108088800-108090400	Enhancers	Fetal Brain Male	brain
19	chr7:108089000-108089400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:108089000-108089400	Enhancers	Brain Germinal Matrix	brain
21	chr7:108089000-108089600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:108089000-108090200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr7:108089200-108089400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr7:108089200-108089400	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr7:108089200-108089600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr7:108089200-108089600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
27	chr7:108089200-108089800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr7:108089200-108089800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:108089200-108090200	Enhancers	H1 Cell Line	embryonic stem cell
30	chr7:108089200-108090200	Flanking Active TSS	Fetal Brain Female	brain
31	chr7:108089200-108090800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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