Variant report

Variant	rs11622552
Chromosome Location	chr14:104007840-104007841
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:103964404..103966727-chr14:104006569..104008780,2	K562	blood:
2	chr14:104007446..104009155-chr14:104027649..104030499,2	K562	blood:
3	chr14:104006138..104009668-chr14:104023103..104027300,4	K562	blood:
4	chr14:104005293..104008024-chr14:104095001..104096983,2	K562	blood:

Variant related genes	Relation type
ENSG00000126214	Chromatin interaction
ENSG00000256053	Chromatin interaction
ENSG00000075413	Chromatin interaction
ENSG00000166170	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10132436	0.90[ASN][1000 genomes]
rs10132514	0.90[ASN][1000 genomes]
rs10149249	0.83[JPT][hapmap]
rs11622835	0.94[CEU][hapmap];0.83[JPT][hapmap]
rs11625044	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11626905	1.00[CEU][hapmap];0.92[JPT][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11627052	0.89[CEU][hapmap];0.83[JPT][hapmap]
rs2274268	0.84[JPT][hapmap]
rs2403205	0.83[JPT][hapmap]
rs3783404	0.84[JPT][hapmap]
rs58101275	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs709400	0.83[JPT][hapmap]
rs7154948	0.83[JPT][hapmap]
rs752268	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7693	0.83[JPT][hapmap]
rs861528	0.83[JPT][hapmap]
rs861539	0.83[JPT][hapmap]
rs942863	0.83[JPT][hapmap]
rs942865	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 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	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
5	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
6	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
7	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
8	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
9	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
10	nsv902302	chr14:103979953-104018455	Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
11	nsv902303	chr14:103979953-104034746	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
12	nsv902304	chr14:103979953-104061646	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
13	nsv902305	chr14:103979953-104073551	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
14	nsv827068	chr14:103982866-104021347	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
15	esv1835145	chr14:103984294-104014935	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
16	esv1839595	chr14:103987140-104034746	Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Enhancers 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	41 gene(s)	inside rSNPs	diseases
17	nsv566021	chr14:103989639-104012982	Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer 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	20 gene(s)	inside rSNPs	diseases
18	esv1819920	chr14:103989971-104018096	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
19	nsv9170	chr14:103994260-104017971	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription 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	18 gene(s)	inside rSNPs	diseases
20	esv1825092	chr14:104005264-104022171	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
21	nsv566022	chr14:104007555-104092789	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11622552	CKB	cis	Skin Sun Exposed Lower leg	GTEx
rs11622552	CKB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103996800-104023400	Weak transcription	Primary B cells from cord blood	blood
2	chr14:103997600-104013000	Weak transcription	K562	blood
3	chr14:104000600-104008000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr14:104002000-104008200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr14:104002000-104012800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr14:104002200-104008200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:104002200-104022600	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr14:104002400-104009800	Weak transcription	Liver	Liver
9	chr14:104002400-104013000	Weak transcription	Dnd41	blood
10	chr14:104002800-104023400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr14:104003000-104008000	Weak transcription	Fetal Brain Female	brain
12	chr14:104003000-104008800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:104003000-104018400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr14:104003200-104010600	Enhancers	NHDF-Ad	bronchial
15	chr14:104003400-104010000	Weak transcription	Spleen	Spleen
16	chr14:104003800-104009000	Enhancers	Fetal Muscle Leg	muscle
17	chr14:104004000-104008200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr14:104004000-104008800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr14:104004200-104008200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr14:104004200-104011400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr14:104004400-104008400	Enhancers	Brain Cingulate Gyrus	brain
22	chr14:104004400-104011400	Enhancers	Right Ventricle	heart
23	chr14:104004600-104008000	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr14:104004600-104008200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr14:104004600-104008200	Enhancers	Brain Substantia Nigra	brain
26	chr14:104004600-104008400	Enhancers	Colon Smooth Muscle	Colon
27	chr14:104004600-104011400	Enhancers	Adipose Nuclei	Adipose
28	chr14:104004600-104013600	Enhancers	Brain Angular Gyrus	brain
29	chr14:104004800-104008200	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr14:104004800-104008800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr14:104004800-104010000	Enhancers	Placenta Amnion	Placenta Amnion
32	chr14:104005000-104008800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:104005000-104008800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr14:104005400-104009000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr14:104005400-104011400	Enhancers	Ovary	ovary
36	chr14:104005800-104008400	Enhancers	Brain Anterior Caudate	brain
37	chr14:104005800-104009000	Weak transcription	Psoas Muscle	Psoas
38	chr14:104005800-104011400	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr14:104006000-104010000	Enhancers	Placenta	Placenta
40	chr14:104006000-104017800	Weak transcription	Aorta	Aorta
41	chr14:104006200-104008000	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr14:104006200-104008400	Enhancers	Stomach Mucosa	stomach
43	chr14:104006200-104008800	Enhancers	Fetal Stomach	stomach
44	chr14:104006400-104008000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr14:104006400-104008600	Enhancers	Fetal Intestine Small	intestine
46	chr14:104006400-104009600	Flanking Active TSS	HSMM	muscle
47	chr14:104006400-104010000	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr14:104006400-104010600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr14:104006600-104008000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr14:104006600-104008200	Enhancers	Fetal Thymus	thymus

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