Variant report

Variant	rs11622473
Chromosome Location	chr14:103979762-103979763
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	chr14:103969311..103972021-chr14:103977810..103980718,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11622835	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11625044	0.81[ASN][1000 genomes]
rs55790309	0.95[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8017780	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
3	nsv832883	chr14:103927687-104120953	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	esv1835815	chr14:103942991-103989757	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	29 gene(s)	inside rSNPs	diseases
5	nsv1044967	chr14:103954727-104007051	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	esv1807091	chr14:103956182-104020454	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	esv1835824	chr14:103956182-104020454	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv902297	chr14:103956182-104061646	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
9	nsv902298	chr14:103959289-104061646	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
10	esv1818859	chr14:103967299-103989757	Active TSS Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
11	esv1833254	chr14:103967299-103989757	Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
12	esv1835374	chr14:103967299-103989757	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
13	nsv902299	chr14:103967504-104061646	Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
14	nsv902300	chr14:103967504-104205811	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
15	esv1834605	chr14:103969909-104003091	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11622473	CKB	cis	Skin Sun Exposed Lower leg	GTEx
rs11622473	CKB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103927800-103979800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr14:103947600-103980000	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr14:103958800-103980400	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr14:103967000-103980000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:103967000-103980600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:103967000-103981400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:103970400-103984600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr14:103970600-103984200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:103971000-103984400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr14:103971600-103987000	Weak transcription	Small Intestine	intestine
11	chr14:103971800-103985200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr14:103971800-103985800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:103972000-103983400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:103972000-103984400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr14:103972000-103985200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr14:103972000-103987000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr14:103972200-103985000	Weak transcription	Primary B cells from peripheral blood	blood
18	chr14:103974600-103985400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr14:103975400-103985400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr14:103975800-103981600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr14:103976400-103985200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr14:103976600-103985600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr14:103976800-103984200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr14:103977000-103984600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr14:103977000-103984600	Weak transcription	K562	blood
26	chr14:103977000-103985000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr14:103977000-103986800	Weak transcription	Primary B cells from cord blood	blood
28	chr14:103977000-103987000	Weak transcription	Dnd41	blood
29	chr14:103977400-103985400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr14:103977600-103984600	Weak transcription	Hela-S3	cervix
31	chr14:103977600-103985200	Weak transcription	GM12878-XiMat	blood
32	chr14:103977800-103984600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr14:103977800-103984600	Weak transcription	HUVEC	blood vessel
34	chr14:103978000-103984000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr14:103978000-103984400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr14:103978000-103984600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr14:103978000-103984800	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr14:103978000-103985000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr14:103978000-103985200	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr14:103978000-103985200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr14:103978200-103984200	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr14:103978200-103984400	Weak transcription	Liver	Liver
43	chr14:103978200-103985200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr14:103978600-103980400	Enhancers	NHDF-Ad	bronchial
45	chr14:103978600-103980600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr14:103978600-103980600	Enhancers	Fetal Brain Male	brain
47	chr14:103978600-103981000	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr14:103978600-103981200	Weak transcription	Thymus	Thymus
49	chr14:103978800-103979800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr14:103978800-103979800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin

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