Variant report

Variant	rs73278730
Chromosome Location	chr7:14013811-14013812
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:13998712..14001529-chr7:14011348..14014089,2	K562	blood:
2	chr7:14008374..14010454-chr7:14010741..14014267,3	K562	blood:
3	chr7:13997095..13998598-chr7:14011763..14014097,2	K562	blood:
4	chr7:13999444..14001578-chr7:14011983..14013986,2	K562	blood:
5	chr7:14011992..14014933-chr7:14015921..14017592,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10224623	1.00[EUR][1000 genomes]
rs10225603	1.00[EUR][1000 genomes]
rs10239868	1.00[EUR][1000 genomes]
rs17167855	1.00[EUR][1000 genomes]
rs55872917	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60410662	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73278743	1.00[EUR][1000 genomes]
rs73278744	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73280514	1.00[EUR][1000 genomes]
rs73679057	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv887702	chr7:13995209-14027557	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv606279	chr7:13995209-14027991	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv887703	chr7:13997159-14027557	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv887704	chr7:13997159-14029739	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13989000-14019400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:13990800-14014000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:13990800-14014400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:13998600-14014000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:14002400-14019600	Weak transcription	K562	blood
6	chr7:14003800-14016200	Weak transcription	NHDF-Ad	bronchial
7	chr7:14004000-14014000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:14004000-14017400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr7:14004000-14018600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:14004200-14014000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:14004200-14014000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr7:14004400-14019400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:14005600-14019400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr7:14005800-14018800	Weak transcription	NH-A	brain
15	chr7:14006000-14014000	Weak transcription	Fetal Lung	lung
16	chr7:14006000-14018800	Weak transcription	Osteobl	bone
17	chr7:14009800-14019800	Weak transcription	Fetal Kidney	kidney
18	chr7:14010200-14014000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:14010200-14020200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:14010400-14017400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr7:14010400-14027800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:14010800-14017400	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr7:14011000-14017400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:14011200-14014000	Weak transcription	Fetal Muscle Leg	muscle
25	chr7:14011200-14017400	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr7:14011400-14014000	Weak transcription	Fetal Heart	heart
27	chr7:14011600-14014200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:14011800-14017200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:14011800-14022400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr7:14012200-14017400	Weak transcription	Fetal Brain Female	brain
31	chr7:14012400-14014000	Weak transcription	Fetal Muscle Trunk	muscle
32	chr7:14012400-14016600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:14012600-14014200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:14012800-14014200	Active TSS	NHLF	lung
35	chr7:14012800-14016800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:14012800-14027600	Weak transcription	Fetal Stomach	stomach
37	chr7:14013000-14019400	Weak transcription	HSMM	muscle
38	chr7:14013000-14027600	Weak transcription	Liver	Liver
39	chr7:14013000-14027800	Weak transcription	Aorta	Aorta
40	chr7:14013200-14019800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr7:14013200-14020200	Weak transcription	Adipose Nuclei	Adipose
42	chr7:14013400-14017000	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr7:14013400-14017200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr7:14013600-14019400	Weak transcription	Fetal Brain Male	brain
45	chr7:14013800-14015400	Strong transcription	Left Ventricle	heart
46	chr7:14013800-14016600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr7:14013800-14017200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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