Variant report

Variant	rs1990127
Chromosome Location	chr7:16532405-16532406
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:16532204..16534776-chr7:16581975..16583734,2	K562	blood:
2	chr7:16532273..16538122-chr7:16541684..16545324,6	K562	blood:
3	chr7:16526991..16528708-chr7:16530657..16533220,2	K562	blood:
4	chr7:16532269..16535153-chr7:16538265..16540761,2	K562	blood:
5	chr7:16521718..16524070-chr7:16531143..16534278,3	K562	blood:
6	chr7:16530699..16533769-chr7:16536615..16539765,3	K562	blood:
7	chr7:16531650..16533232-chr7:16685013..16686777,2	K562	blood:

Variant related genes	Relation type
ENSG00000136261	Chromatin interaction
ENSG00000106524	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10085370	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2040991	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2057958	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2158794	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs2158796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2389641	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs2704675	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58557959	0.92[ASN][1000 genomes]
rs60114165	0.98[ASN][1000 genomes]
rs6461259	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73295212	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1034151	chr7:16415497-16578081	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	nsv887754	chr7:16509086-16541388	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv887755	chr7:16509086-16542364	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv887756	chr7:16520193-16566391	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv1028125	chr7:16529160-16847225	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16524800-16533400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:16525600-16534600	Weak transcription	A549	lung
3	chr7:16527000-16535600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:16528000-16535200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:16528000-16535400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:16530000-16533800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:16530600-16533400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:16530800-16535000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:16530800-16535400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:16531400-16533600	Enhancers	Fetal Intestine Large	intestine
11	chr7:16531600-16532800	Flanking Active TSS	K562	blood
12	chr7:16531600-16533400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:16531600-16533800	Enhancers	Fetal Intestine Small	intestine
14	chr7:16531800-16532800	Enhancers	Fetal Kidney	kidney
15	chr7:16531800-16532800	Enhancers	NH-A	brain
16	chr7:16531800-16535200	Enhancers	HMEC	breast
17	chr7:16532000-16532600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr7:16532200-16532600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:16532200-16532600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:16532200-16532600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
21	chr7:16532200-16532600	Enhancers	Stomach Mucosa	stomach
22	chr7:16532200-16532600	Flanking Active TSS	HepG2	liver
23	chr7:16532200-16532600	Enhancers	HUVEC	blood vessel
24	chr7:16532200-16535400	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr7:16532400-16532600	Enhancers	Brain Hippocampus Middle	brain
26	chr7:16532400-16532800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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