Variant report

Variant	rs6947550
Chromosome Location	chr7:16442988-16442989
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:16441426..16443801-chr7:16458658..16460792,2	K562	blood:
2	chr7:16441360..16443090-chr7:16448119..16450606,2	K562	blood:
3	chr7:16436062..16438376-chr7:16440811..16443657,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10257504	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10464287	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10950619	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11976934	0.93[EUR][1000 genomes]
rs17617900	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17680292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56206818	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56223703	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56335840	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60989361	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6461255	0.82[EUR][1000 genomes]
rs66743577	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6948660	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6949112	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6955398	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6958802	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7457079	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7782939	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9655136	0.84[EUR][1000 genomes]
rs9691296	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv2759514	chr7:16236162-16527390	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv2758105	chr7:16272822-16527390	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv2757215	chr7:16346139-16458474	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv508447	chr7:16360614-16446053	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1031019	chr7:16377519-16458474	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16434400-16459000	Weak transcription	Stomach Mucosa	stomach
2	chr7:16435800-16444400	ZNF genes & repeats	K562	blood
3	chr7:16436200-16443600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
4	chr7:16439800-16450200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:16440000-16449000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr7:16440200-16443600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:16440200-16452600	Weak transcription	Pancreas	Pancrea
8	chr7:16440400-16449000	Weak transcription	HSMM	muscle
9	chr7:16440400-16450000	Weak transcription	Fetal Stomach	stomach
10	chr7:16440400-16450400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:16440400-16452400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr7:16440400-16452600	Weak transcription	Gastric	stomach
13	chr7:16440400-16459600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:16441200-16445000	Weak transcription	Ovary	ovary
15	chr7:16441600-16443800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:16442400-16443600	ZNF genes & repeats	Fetal Muscle Leg	muscle
17	chr7:16442600-16443600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
18	chr7:16442600-16443600	ZNF genes & repeats	Fetal Lung	lung
19	chr7:16442600-16449000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:16442800-16443200	ZNF genes & repeats	Liver	Liver
21	chr7:16442800-16443200	ZNF genes & repeats	HSMMtube	muscle
22	chr7:16442800-16443400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
23	chr7:16442800-16443400	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr7:16442800-16443600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:16442800-16443600	ZNF genes & repeats	Left Ventricle	heart
26	chr7:16442800-16444000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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