Variant report

Variant	rs10132436
Chromosome Location	chr14:104012194-104012195
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ESR1	chr14:104012154-104012963	ECC-1	luminal epithelium:	n/a	n/a
2	ESR1	chr14:104012188-104012904	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr14:104006369-104013642	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:103801342..103804122-chr14:104010938..104012453,2	K562	blood:
2	chr14:104009722..104012574-chr14:104026131..104028003,2	K562	blood:

Variant related genes	Relation type
RNU7-160P	TF binding region
ENSG00000100664	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10132514	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622552	0.90[ASN][1000 genomes]
rs11625044	0.96[ASN][1000 genomes]
rs11626905	0.90[ASN][1000 genomes]
rs58101275	0.94[ASN][1000 genomes]
rs752268	0.93[ASN][1000 genomes]
rs942865	0.93[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10132436	CKB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:83 , 50 per page) page: 1 2

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	chr14:104002000-104012800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr14:104002200-104022600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr14:104002400-104013000	Weak transcription	Dnd41	blood
6	chr14:104002800-104023400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr14:104003000-104018400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr14:104004600-104013600	Enhancers	Brain Angular Gyrus	brain
9	chr14:104006000-104017800	Weak transcription	Aorta	Aorta
10	chr14:104007200-104014800	Enhancers	Fetal Brain Male	brain
11	chr14:104007200-104024400	Weak transcription	Fetal Kidney	kidney
12	chr14:104008400-104013400	Enhancers	Fetal Muscle Trunk	muscle
13	chr14:104009000-104013400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr14:104009200-104013400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr14:104009200-104013600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:104009200-104013600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:104009200-104013600	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr14:104009200-104013800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr14:104009600-104013600	Enhancers	Fetal Muscle Leg	muscle
20	chr14:104009800-104015600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:104009800-104023400	Weak transcription	Fetal Thymus	thymus
22	chr14:104010000-104017000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr14:104010000-104017800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:104010000-104023600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr14:104010200-104015200	Weak transcription	HSMMtube	muscle
26	chr14:104010200-104016600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr14:104010200-104023600	Weak transcription	Liver	Liver
28	chr14:104010400-104012600	Weak transcription	Pancreas	Pancrea
29	chr14:104010400-104012800	Weak transcription	Spleen	Spleen
30	chr14:104010400-104013000	Enhancers	Brain Cingulate Gyrus	brain
31	chr14:104010400-104015400	Weak transcription	Right Atrium	heart
32	chr14:104010400-104015600	Weak transcription	HepG2	liver
33	chr14:104010400-104017800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr14:104010400-104023600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr14:104010600-104012400	Weak transcription	HSMM	muscle
36	chr14:104010600-104013800	Enhancers	Brain Hippocampus Middle	brain
37	chr14:104010600-104015800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:104010600-104016800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr14:104010600-104024200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr14:104010600-104025000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr14:104011000-104013400	Enhancers	Fetal Brain Female	brain
42	chr14:104011200-104012800	Weak transcription	Duodenum Mucosa	Duodenum
43	chr14:104011200-104012800	Weak transcription	Esophagus	oesophagus
44	chr14:104011200-104013000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr14:104011200-104013000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr14:104011200-104013000	Weak transcription	Gastric	stomach
47	chr14:104011200-104013200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr14:104011200-104013400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr14:104011200-104015400	Weak transcription	Colonic Mucosa	Colon
50	chr14:104011200-104015400	Weak transcription	Left Ventricle	heart

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