Variant report

Variant	rs56041031
Chromosome Location	chr7:13986506-13986507
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	chr7:13985844..13987492-chr7:14019235..14021498,3	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10486064	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11981205	0.90[ASN][1000 genomes]
rs62454583	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62454585	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73679047	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019873	chr7:13707148-14133367	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1020310	chr7:13839681-14015794	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv538738	chr7:13839681-14015794	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv887698	chr7:13841798-14056075	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1020543	chr7:13851470-14021121	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv949467	chr7:13938464-14279074	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv887700	chr7:13948517-14042702	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv887701	chr7:13955324-13988170	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13960200-13987400	Weak transcription	K562	blood
2	chr7:13960200-13988200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:13960400-13989000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:13971400-13991600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr7:13971600-13989800	Weak transcription	Liver	Liver
6	chr7:13973400-13989000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:13973400-13990000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:13974200-13987400	Weak transcription	Fetal Heart	heart
9	chr7:13975600-13988200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr7:13975600-14003600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:13975600-14003600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:13975600-14013800	Weak transcription	Left Ventricle	heart
13	chr7:13978800-14004600	Weak transcription	Fetal Lung	lung
14	chr7:13979200-13988800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr7:13979200-13998000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr7:13979600-13989000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr7:13984200-13989800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:13984800-13987400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:13984800-13988800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr7:13985000-13989800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:13985200-13987000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:13985200-13988000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr7:13985400-13987400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:13985800-13986600	Weak transcription	NHDF-Ad	bronchial
25	chr7:13985800-13987600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:13985800-14004600	Weak transcription	NHLF	lung
27	chr7:13986000-13986800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr7:13986000-13987200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr7:13986000-13987800	Weak transcription	HSMMtube	muscle
30	chr7:13986000-13994000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr7:13986200-13997000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:13986400-13986600	Enhancers	Lung	lung
33	chr7:13986400-13987400	Weak transcription	HSMM	muscle

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