Variant report

Variant	rs11974577
Chromosome Location	chr7:71042706-71042707
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	chr7:71041096..71042757-chr7:71047706..71050011,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10215026	1.00[CEU][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10232345	1.00[CEU][hapmap];0.84[AMR][1000 genomes]
rs10248679	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10259078	1.00[CEU][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10259301	0.84[AMR][1000 genomes]
rs10271141	0.82[EUR][1000 genomes]
rs10272667	0.84[AMR][1000 genomes]
rs10281757	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10950270	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11976847	0.93[YRI][hapmap]
rs11983920	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11983957	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12333721	1.00[CEU][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12333797	1.00[CEU][hapmap];0.84[AMR][1000 genomes]
rs1464904	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28463816	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28526781	0.84[AMR][1000 genomes]
rs58456669	0.84[AMR][1000 genomes]
rs66840657	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6952924	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6960690	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6961562	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6977463	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73185198	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7784388	1.00[CEU][hapmap];0.84[AMR][1000 genomes]
rs7805485	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
3	nsv1026896	chr7:71003462-71721516	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS 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	6 gene(s)	inside rSNPs	diseases
4	nsv516049	chr7:71026463-71280299	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1019799	chr7:71027947-71274161	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv538938	chr7:71027947-71274161	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1016182	chr7:71033825-71285800	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1034811	chr7:71033825-71288961	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1024288	chr7:71039619-71285800	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71024800-71079400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:71025400-71048400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:71025400-71057200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr7:71029800-71045800	Weak transcription	Fetal Stomach	stomach
5	chr7:71034600-71048200	Weak transcription	Aorta	Aorta
6	chr7:71034800-71070000	Weak transcription	Ovary	ovary
7	chr7:71035200-71052800	Weak transcription	Fetal Muscle Leg	muscle
8	chr7:71036200-71043800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:71036200-71047800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:71036600-71052800	Weak transcription	Fetal Lung	lung
11	chr7:71039200-71044200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:71039600-71051000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr7:71039600-71053600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:71039800-71043800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr7:71039800-71045000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr7:71039800-71052200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:71040000-71046000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr7:71040200-71054600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:71041400-71048600	Weak transcription	Fetal Brain Male	brain
20	chr7:71042200-71043000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr7:71042400-71043000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:71042400-71043000	Enhancers	NH-A	brain
23	chr7:71042600-71043000	Enhancers	HSMM	muscle

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