Variant report

Variant	rs2040970
Chromosome Location	chr7:70617004-70617005
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1014092	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10950245	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10950246	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10950247	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10950248	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11761504	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11773272	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12531756	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12539682	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12540267	0.84[CEU][hapmap];0.86[CHB][hapmap];0.90[YRI][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12665914	1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12674459	1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17142542	1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17519859	0.86[CHB][hapmap]
rs2867041	1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2903460	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34895774	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56344545	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60402344	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6460641	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6943535	0.86[CHB][hapmap]
rs728136	0.86[CHB][hapmap]
rs7777592	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7778265	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7804724	0.88[CEU][hapmap];0.85[CHB][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1034662	chr7:70275712-70722953	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1015261	chr7:70404302-71255933	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70611600-70623800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:70611800-70620200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:70612000-70619800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:70612000-70636400	Weak transcription	Ovary	ovary
5	chr7:70612200-70650600	Weak transcription	Fetal Lung	lung
6	chr7:70613400-70622600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:70613400-70624600	Weak transcription	Right Atrium	heart
8	chr7:70614600-70617400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:70615000-70617200	Weak transcription	Brain Germinal Matrix	brain
10	chr7:70615000-70622400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr7:70615200-70632800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:70615400-70619600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr7:70615400-70619800	Weak transcription	Fetal Muscle Leg	muscle
14	chr7:70615400-70620600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:70616000-70632800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:70616200-70617200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr7:70616200-70620200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:70616200-70621800	Weak transcription	Fetal Stomach	stomach
19	chr7:70616800-70617200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:70617000-70617400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr7:70617000-70617400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr7:70617000-70617600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr7:70617000-70617600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr7:70617000-70617600	Genic enhancers	iPS-20b Cell Line	embryonic stem cell

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