Variant report

Variant	rs62454619
Chromosome Location	chr7:14014360-14014361
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:14007347..14010372-chr7:14013891..14016149,3	K562	blood:
2	chr7:14011992..14014933-chr7:14015921..14017592,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10950502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11765313	1.00[AFR][1000 genomes]
rs11768508	1.00[AFR][1000 genomes]
rs11772231	1.00[AFR][1000 genomes]
rs11772295	1.00[AFR][1000 genomes]
rs12154297	1.00[AFR][1000 genomes]
rs12154307	1.00[AFR][1000 genomes]
rs16878042	1.00[AFR][1000 genomes]
rs17167684	1.00[AFR][1000 genomes]
rs17167722	1.00[AFR][1000 genomes]
rs17167735	1.00[AFR][1000 genomes]
rs17167741	1.00[AFR][1000 genomes]
rs17167742	1.00[AFR][1000 genomes]
rs17167773	1.00[AFR][1000 genomes]
rs17167791	1.00[AFR][1000 genomes]
rs17167826	1.00[AFR][1000 genomes]
rs62452785	1.00[AFR][1000 genomes]
rs62452786	1.00[AFR][1000 genomes]
rs62452787	1.00[AFR][1000 genomes]
rs62452788	1.00[AFR][1000 genomes]
rs62452794	1.00[AFR][1000 genomes]
rs62452795	1.00[AFR][1000 genomes]
rs62452797	1.00[AFR][1000 genomes]
rs62452798	1.00[AFR][1000 genomes]
rs62452801	1.00[AFR][1000 genomes]
rs62452805	1.00[AFR][1000 genomes]
rs62452829	1.00[AFR][1000 genomes]
rs62452832	1.00[AFR][1000 genomes]
rs62452833	1.00[AFR][1000 genomes]
rs62454612	1.00[AFR][1000 genomes]
rs62454614	1.00[AFR][1000 genomes]
rs62454616	1.00[AFR][1000 genomes]
rs62454617	1.00[AFR][1000 genomes]
rs62454618	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs62454620	1.00[AFR][1000 genomes]
rs62454644	1.00[AFR][1000 genomes]
rs62454649	1.00[AFR][1000 genomes]
rs62454651	1.00[AFR][1000 genomes]
rs73052213	1.00[AFR][1000 genomes]
rs73054156	1.00[AFR][1000 genomes]
rs73057914	1.00[AFR][1000 genomes]
rs73057927	1.00[AFR][1000 genomes]
rs73059926	1.00[AFR][1000 genomes]
rs73059973	1.00[AFR][1000 genomes]
rs7349970	1.00[AFR][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62454619	C4orf17	trans	lymphoblastoid	RTeQTL

Chromatin state (count:49 , 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	chr7:13990800-14014400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:14002400-14019600	Weak transcription	K562	blood
4	chr7:14003800-14016200	Weak transcription	NHDF-Ad	bronchial
5	chr7:14004000-14017400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:14004000-14018600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:14004400-14019400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:14005600-14019400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr7:14005800-14018800	Weak transcription	NH-A	brain
10	chr7:14006000-14018800	Weak transcription	Osteobl	bone
11	chr7:14009800-14019800	Weak transcription	Fetal Kidney	kidney
12	chr7:14010200-14020200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:14010400-14017400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr7:14010400-14027800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:14010800-14017400	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr7:14011000-14017400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:14011200-14017400	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr7:14011800-14017200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:14011800-14022400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:14012200-14017400	Weak transcription	Fetal Brain Female	brain
21	chr7:14012400-14016600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:14012800-14016800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:14012800-14027600	Weak transcription	Fetal Stomach	stomach
24	chr7:14013000-14019400	Weak transcription	HSMM	muscle
25	chr7:14013000-14027600	Weak transcription	Liver	Liver
26	chr7:14013000-14027800	Weak transcription	Aorta	Aorta
27	chr7:14013200-14019800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr7:14013200-14020200	Weak transcription	Adipose Nuclei	Adipose
29	chr7:14013400-14017000	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr7:14013400-14017200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr7:14013600-14019400	Weak transcription	Fetal Brain Male	brain
32	chr7:14013800-14015400	Strong transcription	Left Ventricle	heart
33	chr7:14013800-14016600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr7:14013800-14017200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:14014000-14014600	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:14014000-14014600	Strong transcription	Fetal Heart	heart
37	chr7:14014000-14015000	Strong transcription	Fetal Muscle Trunk	muscle
38	chr7:14014000-14015600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr7:14014000-14016600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr7:14014000-14016800	Strong transcription	Fetal Muscle Leg	muscle
41	chr7:14014000-14017000	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr7:14014000-14017000	Strong transcription	Fetal Lung	lung
43	chr7:14014000-14017200	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr7:14014000-14017400	Strong transcription	H9 Cell Line	embryonic stem cell
45	chr7:14014200-14014600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:14014200-14014800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:14014200-14014800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr7:14014200-14018800	Weak transcription	HUVEC	blood vessel
49	chr7:14014200-14018800	Weak transcription	NHLF	lung

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