Variant report

Variant	rs11626905
Chromosome Location	chr14:104016066-104016067
allele	C/T
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	CTCF	chr14:104015853-104016067	K562	blood:	n/a	chr14:104015964-104015977
2	RAD21	chr14:104015784-104016156	H1-hESC	embryonic stem cell:	n/a	chr14:104015964-104015978
3	CTCF	chr14:104015920-104016070	NHEK	skin:	n/a	chr14:104015964-104015977
4	POLR2A	chr14:104015970-104016147	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr14:104015852-104016108	K562	blood:	n/a	chr14:104015964-104015977
6	CTCF	chr14:104015920-104016070	WERI-Rb-1	eye:	n/a	chr14:104015964-104015977
7	CTCF	chr14:104015960-104016110	HMEC	breast:	n/a	chr14:104015964-104015977
8	MAZ	chr14:104015838-104016094	HepG2	liver:	n/a	chr14:104015899-104015910
9	CTCF	chr14:104015940-104016090	HepG2	liver:	n/a	chr14:104015964-104015977
10	RFX5	chr14:104015917-104016307	HepG2	liver:	n/a	n/a
11	BHLHE40	chr14:104015812-104016627	HepG2	liver:	n/a	chr14:104016139-104016148
12	ZNF143	chr14:104016014-104016079	H1-hESC	embryonic stem cell:	n/a	n/a
13	RCOR1	chr14:104015925-104016544	HepG2	liver:	n/a	n/a
14	POLR2A	chr14:104015914-104016583	HepG2	liver:	n/a	n/a
15	POLR2A	chr14:104015942-104016312	HepG2	liver:	n/a	n/a
16	CTCF	chr14:104015824-104016100	HepG2	liver:	n/a	chr14:104015964-104015977
17	CTCF	chr14:104016020-104016170	HMEC	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:103966734..103968731-chr14:104012541..104016540,3	MCF-7	breast:
2	chr14:104014533..104016298-chr14:104025800..104028102,2	K562	blood:
3	chr14:103799669..103802148-chr14:104015889..104018791,2	MCF-7	breast:
4	chr14:103964170..103966734-chr14:104015429..104018902,3	MCF-7	breast:

Variant related genes	Relation type
RNU7-160P	TF binding region
ENSG00000258851	TF binding region
ENSG00000075413	Chromatin interaction
ENSG00000100664	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10132436	0.90[ASN][1000 genomes]
rs10132514	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10141120	0.86[JPT][hapmap]
rs10141388	0.86[JPT][hapmap]
rs10149249	0.84[JPT][hapmap]
rs1028613	0.86[JPT][hapmap]
rs11621037	0.86[JPT][hapmap]
rs11622552	1.00[CEU][hapmap];0.92[JPT][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11622835	0.94[CEU][hapmap];0.89[CHB][hapmap];0.92[JPT][hapmap];0.81[EUR][1000 genomes]
rs11623869	0.86[JPT][hapmap]
rs11625044	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11627052	0.88[CEU][hapmap];0.89[CHB][hapmap];0.92[JPT][hapmap]
rs12879085	0.86[JPT][hapmap]
rs12898029	0.86[JPT][hapmap]
rs1467561	0.86[JPT][hapmap]
rs2010281	0.86[JPT][hapmap]
rs2273699	0.86[JPT][hapmap]
rs2273700	0.86[JPT][hapmap]
rs2274268	0.85[JPT][hapmap]
rs3783394	0.86[JPT][hapmap]
rs3783402	0.85[JPT][hapmap]
rs58101275	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6575983	0.86[JPT][hapmap]
rs7152202	0.86[JPT][hapmap]
rs7154948	0.84[JPT][hapmap]
rs7155014	0.86[JPT][hapmap]
rs7158144	0.85[JPT][hapmap]
rs7158822	0.85[JPT][hapmap]
rs752268	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7693	0.84[JPT][hapmap]
rs8017780	0.80[EUR][1000 genomes]
rs942863	0.84[JPT][hapmap]
rs942865	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9671911	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:19 , 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	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
16	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
17	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
18	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
19	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
rs11626905	CKB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:99 , 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	chr14:104002200-104022600	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr14:104002800-104023400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr14:104003000-104018400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr14:104006000-104017800	Weak transcription	Aorta	Aorta
6	chr14:104007200-104024400	Weak transcription	Fetal Kidney	kidney
7	chr14:104009800-104023400	Weak transcription	Fetal Thymus	thymus
8	chr14:104010000-104017000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr14:104010000-104017800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr14:104010000-104023600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr14:104010200-104016600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:104010200-104023600	Weak transcription	Liver	Liver
13	chr14:104010400-104017800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr14:104010400-104023600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr14:104010600-104016800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr14:104010600-104024200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr14:104010600-104025000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr14:104011200-104016200	Weak transcription	Fetal Heart	heart
19	chr14:104011200-104016200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr14:104011200-104016400	Weak transcription	NHDF-Ad	bronchial
21	chr14:104011200-104017200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr14:104011200-104017200	Weak transcription	NHLF	lung
23	chr14:104011400-104016200	Weak transcription	Fetal Intestine Large	intestine
24	chr14:104011400-104016400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:104011400-104016600	Weak transcription	Fetal Lung	lung
26	chr14:104011400-104017400	Weak transcription	Lung	lung
27	chr14:104011400-104025000	Weak transcription	Ovary	ovary
28	chr14:104011400-104027800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:104011600-104018600	Weak transcription	Primary T cells from cord blood	blood
30	chr14:104012800-104016800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr14:104013200-104017600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr14:104013200-104022200	Weak transcription	Thymus	Thymus
33	chr14:104013200-104024600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr14:104013400-104016200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr14:104013400-104016400	Weak transcription	Fetal Intestine Small	intestine
36	chr14:104013400-104021800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr14:104013400-104023400	Weak transcription	Dnd41	blood
38	chr14:104013600-104016200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:104013600-104016200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr14:104013600-104016200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr14:104013600-104017200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr14:104013600-104020400	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr14:104013600-104021200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr14:104013600-104021200	Weak transcription	Gastric	stomach
45	chr14:104013600-104023000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr14:104013600-104023200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr14:104013600-104023400	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr14:104013600-104023600	Weak transcription	Primary B cells from peripheral blood	blood
49	chr14:104013600-104024200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr14:104013600-104027600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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