Variant report

Variant	rs6972049
Chromosome Location	chr7:13933370-13933371
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:13894294..13896373-chr7:13930641..13933578,2	K562	blood:
2	chr7:13929540..13931526-chr7:13932770..13934783,2	K562	blood:
3	chr7:13931063..13934018-chr7:13935773..13937430,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11980448	0.93[EUR][1000 genomes]
rs11980482	0.93[EUR][1000 genomes]
rs11983157	0.93[EUR][1000 genomes]
rs17167631	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2189885	1.00[CEU][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs55689802	0.93[EUR][1000 genomes]
rs73068128	0.93[EUR][1000 genomes]
rs73068148	0.93[EUR][1000 genomes]
rs73068169	0.82[EUR][1000 genomes]
rs73068171	0.89[EUR][1000 genomes]
rs73068180	0.93[EUR][1000 genomes]
rs7776462	0.82[AMR][1000 genomes];0.93[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	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	nsv606277	chr7:13907827-13967377	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv606278	chr7:13931182-13959406	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13920600-13943000	Weak transcription	NHDF-Ad	bronchial
2	chr7:13920600-13945600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:13920800-13943600	Weak transcription	NHLF	lung
4	chr7:13921400-13943400	Weak transcription	Osteobl	bone
5	chr7:13921600-13933800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:13921800-13935000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:13921800-13936000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:13926000-13934600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:13928400-13943600	Weak transcription	NH-A	brain
10	chr7:13930200-13945200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:13930400-13945200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:13930600-13934600	Weak transcription	Left Ventricle	heart
13	chr7:13930600-13937200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:13930600-13937200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr7:13930600-13948200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr7:13930800-13935400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr7:13930800-13951800	Weak transcription	Fetal Kidney	kidney
18	chr7:13930800-13971000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr7:13931000-13947800	Weak transcription	Right Ventricle	heart
20	chr7:13932000-13952800	Weak transcription	Adipose Nuclei	Adipose
21	chr7:13932200-13938200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr7:13932200-13949600	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr7:13932200-13949600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:13932400-13934200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr7:13932600-13935000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr7:13932600-13935400	Weak transcription	Fetal Lung	lung
27	chr7:13932800-13934800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr7:13932800-13935000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:13933000-13936000	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr7:13933200-13935400	Weak transcription	Aorta	Aorta

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