Variant report

Variant	rs11627567
Chromosome Location	chr14:103851775-103851776
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	GABPA	chr14:103851409-103851951	K562	blood:	n/a	n/a
2	REST	chr14:103851586-103851931	ECC-1	luminal epithelium:	n/a	chr14:103851774-103851784
3	MAX	chr14:103851464-103851824	K562	blood:	n/a	n/a
4	TEAD4	chr14:103851285-103852491	SK-N-SH	brain:	n/a	n/a
5	GABPA	chr14:103851433-103851924	HepG2	liver:	n/a	n/a
6	MAZ	chr14:103851361-103852099	GM12878	blood:	n/a	n/a
7	POLR2A	chr14:103851404-103852025	HepG2	liver:	n/a	n/a
8	GABPA	chr14:103851335-103852050	H1-hESC	embryonic stem cell:	n/a	n/a
9	EP300	chr14:103851445-103851891	GM12878	blood:	n/a	chr14:103851790-103851806 chr14:103851711-103851727 chr14:103851704-103851711 chr14:103851782-103851791 chr14:103851787-103851803
10	YY1	chr14:103851155-103852740	GM12892	blood:	n/a	chr14:103851518-103851532 chr14:103851787-103851798 chr14:103851742-103851750 chr14:103851787-103851801 chr14:103851774-103851788 chr14:103851744-103851752 chr14:103851741-103851751 chr14:103852097-103852106 chr14:103851741-103851763 chr14:103851961-103851975 chr14:103851783-103851797 chr14:103851739-103851758 chr14:103851740-103851752
11	TAF1	chr14:103851165-103851873	SK-N-SH	brain:	n/a	n/a
12	TAF1	chr14:103851258-103852233	ECC-1	luminal epithelium:	n/a	n/a
13	CTCF	chr14:103851546-103851871	Spleen_OC	spleen:	n/a	chr14:103851711-103851724
14	EP300	chr14:103851181-103851947	A549	lung:	n/a	chr14:103851790-103851806 chr14:103851711-103851727 chr14:103851704-103851711 chr14:103851782-103851791 chr14:103851888-103851904 chr14:103851787-103851803
15	GABPA	chr14:103851228-103852171	SK-N-SH	brain:	n/a	chr14:103852100-103852109
16	POLR2A	chr14:103851290-103852758	Raji	blood:	n/a	n/a
17	POLR2A	chr14:103851313-103852128	IMR90	lung:	n/a	n/a
18	YY1	chr14:103851173-103852230	SK-N-SH	brain:	n/a	chr14:103851518-103851532 chr14:103851787-103851798 chr14:103851742-103851750 chr14:103851787-103851801 chr14:103851774-103851788 chr14:103851744-103851752 chr14:103851741-103851751 chr14:103852097-103852106 chr14:103851741-103851763 chr14:103851961-103851975 chr14:103851783-103851797 chr14:103851739-103851758 chr14:103851740-103851752
19	POLR2A	chr14:103851406-103852040	GM10847	blood:	n/a	n/a
20	CTCF	chr14:103851660-103851810	GM12871	blood:	n/a	chr14:103851711-103851724
21	MTA3	chr14:103851194-103852382	GM12878	blood:	n/a	n/a
22	EP300	chr14:103851209-103852098	MCF-7	breast:	n/a	chr14:103851790-103851806 chr14:103851963-103851972 chr14:103851711-103851727 chr14:103851704-103851711 chr14:103851961-103851970 chr14:103851782-103851791 chr14:103851888-103851904 chr14:103851967-103851976 chr14:103851787-103851803
23	TAF1	chr14:103851422-103851948	Hela-S3	cervix:	n/a	n/a
24	EP300	chr14:103851276-103851825	SK-N-SH_RA	brain:	n/a	chr14:103851790-103851806 chr14:103851711-103851727 chr14:103851704-103851711 chr14:103851782-103851791 chr14:103851787-103851803
25	POLR2A	chr14:103851387-103852282	K562	blood:	n/a	n/a
26	POLR2A	chr14:103851656-103851837	K562	blood:	n/a	n/a
27	CTCF	chr14:103851528-103852268	IMR90	lung:	n/a	chr14:103852099-103852112 chr14:103851711-103851724
28	KAP1	chr14:103851361-103851834	U2OS	brain:	n/a	n/a
29	POLR2A	chr14:103851237-103851928	SK-N-SH	brain:	n/a	n/a
30	MAFK	chr14:103851222-103851868	IMR90	lung:	n/a	chr14:103851812-103851826 chr14:103851455-103851469
31	EP300	chr14:103851450-103851884	K562	blood:	n/a	chr14:103851790-103851806 chr14:103851711-103851727 chr14:103851704-103851711 chr14:103851782-103851791 chr14:103851787-103851803
32	GABPA	chr14:103851009-103852225	MCF-7	breast:	n/a	chr14:103852100-103852109
33	POLR2A	chr14:103851386-103852030	A549	lung:	n/a	n/a
34	YY1	chr14:103851483-103852113	K562	blood:	n/a	chr14:103851518-103851532 chr14:103851787-103851798 chr14:103851742-103851750 chr14:103851787-103851801 chr14:103851774-103851788 chr14:103851744-103851752 chr14:103851741-103851751 chr14:103852097-103852106 chr14:103851741-103851763 chr14:103851961-103851975 chr14:103851783-103851797 chr14:103851739-103851758 chr14:103851740-103851752
35	TBL1XR1	chr14:103851484-103851968	K562	blood:	n/a	n/a
36	POLR2A	chr14:103851226-103852149	HepG2	liver:	n/a	n/a
37	CHD2	chr14:103851475-103852206	Hela-S3	cervix:	n/a	n/a
38	GABPA	chr14:103851197-103852342	A549	lung:	n/a	chr14:103852100-103852109
39	GABPA	chr14:103850724-103852320	MCF-7	breast:	n/a	chr14:103852100-103852109
40	SMC3	chr14:103851394-103852029	Hela-S3	cervix:	n/a	n/a
41	CEBPD	chr14:103851454-103852006	HepG2	liver:	n/a	n/a
42	POLR2A	chr14:103851376-103851985	HepG2	liver:	n/a	n/a
43	GABPA	chr14:103851339-103852043	HL-60	blood:	n/a	n/a
44	MYC	chr14:103851653-103851868	K562	blood:	n/a	n/a
45	CTCF	chr14:103851657-103852174	K562	blood:	n/a	chr14:103852099-103852112 chr14:103851711-103851724
46	YY1	chr14:103851261-103852007	GM12891	blood:	n/a	chr14:103851518-103851532 chr14:103851787-103851798 chr14:103851742-103851750 chr14:103851787-103851801 chr14:103851774-103851788 chr14:103851744-103851752 chr14:103851741-103851751 chr14:103851741-103851763 chr14:103851961-103851975 chr14:103851783-103851797 chr14:103851739-103851758 chr14:103851740-103851752
47	MAZ	chr14:103851392-103852159	K562	blood:	n/a	n/a
48	POLR2A	chr14:103851523-103852060	GM12878	blood:	n/a	n/a
49	ETS1	chr14:103851599-103852041	A549	lung:	n/a	chr14:103851702-103851715 chr14:103851703-103851712 chr14:103851703-103851712 chr14:103851700-103851716 chr14:103851703-103851712 chr14:103851839-103851852 chr14:103851703-103851712 chr14:103851703-103851712 chr14:103851701-103851711
50	CREB1	chr14:103851418-103851980	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:103851757-103851807	GM06990	blood:	n/a
2	chr14:103851775-103851825	Caco-2	colon:	n/a
3	chr14:103851757-103851807	GM12892	blood:	n/a
4	chr14:103851757-103851807	CMK	blood:	n/a
5	chr14:103851775-103851825	U87	brain:	n/a
6	chr14:103851757-103851807	HRPEpiC	eye:	n/a
7	chr14:103851775-103851825	AoSMC	blood vessel:	n/a
8	chr14:103851757-103851807	HPAEpiC	pulmonary alveolar:	n/a
9	chr14:103851775-103851825	AG04450	lung:	fetal
10	chr14:103851775-103851825	GM12892	blood:	n/a
11	chr14:103851757-103851807	Hela-S3	cervix:	n/a
12	chr14:103851775-103851825	ECC-1	luminal epithelium:	n/a
13	chr14:103851757-103851807	MCF-7	breast:	n/a
14	chr14:103851757-103851807	BE2_C	brain:	n/a
15	chr14:103851775-103851825	NT2-D1	testis:	n/a
16	chr14:103851757-103851807	HCT-116	colon:	n/a
17	chr14:103851775-103851825	H1-hESC	embryonic stem cell:	embryo
18	chr14:103851757-103851807	SK-N-MC	brain:	n/a
19	chr14:103851775-103851825	HCF	heart:	n/a
20	chr14:103851775-103851825	HPAEpiC	pulmonary alveolar:	n/a
21	chr14:103851775-103851825	HCM	heart:	n/a
22	chr14:103851757-103851807	H1-hESC	embryonic stem cell:	embryo
23	chr14:103851757-103851807	SK-N-SH	brain:	n/a
24	chr14:103851757-103851807	RPTEC	kidney:	n/a
25	chr14:103851775-103851825	PFSK-1	brain:	n/a
26	chr14:103851775-103851825	HRCEpiC	kidney:	n/a
27	chr14:103851757-103851807	Caco-2	colon:	n/a
28	chr14:103851757-103851807	ECC-1	luminal epithelium:	n/a
29	chr14:103851757-103851807	ProgFib	skin:	n/a
30	chr14:103851775-103851825	AG04449	skin:	fetal
31	chr14:103851775-103851825	GM12891	blood:	n/a
32	chr14:103851775-103851825	HAEpiC	amniotic membrane:	n/a
33	chr14:103851757-103851807	K562	blood:	n/a
34	chr14:103851757-103851807	AG09309	skin:	n/a
35	chr14:103851757-103851807	HMEC	breast:	n/a
36	chr14:103851775-103851825	IMR90	lung:	fetal
37	chr14:103851757-103851807	SK-N-SH_RA	brain:	n/a
38	chr14:103851775-103851825	T-47D	breast:	n/a
39	chr14:103851775-103851825	RPTEC	kidney:	n/a
40	chr14:103851757-103851807	BJ	skin:	n/a
41	chr14:103851775-103851825	HUVEC	blood vessel:	n/a
42	chr14:103851757-103851807	HIPEpiC	eye:	n/a
43	chr14:103851757-103851807	SAEC	small airway:	n/a
44	chr14:103851775-103851825	MCF-7	breast:	n/a
45	chr14:103851757-103851807	SKMC	muscle:	n/a
46	chr14:103851775-103851825	HIPEpiC	eye:	n/a
47	chr14:103851775-103851825	HL-60	blood:	n/a
48	chr14:103851775-103851825	ovcar-3	ovarian:	n/a
49	chr14:103851775-103851825	LNCaP	prostate:	n/a
50	chr14:103851775-103851825	SKMC	muscle:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:103840813..103842948-chr14:103850567..103853142,2	MCF-7	breast:
2	chr14:103851236..103854697-chr14:103993929..103996210,3	MCF-7	breast:
3	chr14:103851233..103852207-chr17:15902803..15903546,2	Hela-S3	cervix:
4	chr14:103804940..103815889-chr14:103850459..103863829,28	K562	blood:
5	chr14:103794753..103806137-chr14:103849038..103864103,36	MCF-7	breast:
6	chr14:103806698..103810659-chr14:103850742..103855221,6	MCF-7	breast:
7	chr1:14075617..14076410-chr14:103851586..103852274,2	NB4	blood:
8	chr14:103799041..103818802-chr14:103836567..103862153,82	K562	blood:
9	chr14:103797262..103804754-chr14:103849003..103864058,49	MCF-7	breast:
10	chr14:103798959..103802101-chr14:103850214..103852987,6	K562	blood:
11	chr14:103570168..103572327-chr14:103851557..103853448,2	K562	blood:

Variant related genes	Relation type
MARK3	TF binding region
MARK3	CpG island
ENSG00000205436	Chromatin interaction
ENSG00000166166	Chromatin interaction
ENSG00000272533	Chromatin interaction
ENSG00000100664	Chromatin interaction
ENSG00000260285	Chromatin interaction
ENSG00000243904	Chromatin interaction
ENSG00000011295	Chromatin interaction
ENSG00000259775	Chromatin interaction
ENSG00000116731	Chromatin interaction
ENSG00000214941	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11627052	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042714	chr14:103085298-103860730	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1049747	chr14:103126148-103955984	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
3	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
4	nsv9168	chr14:103531729-103913306	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	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
6	nsv542200	chr14:103838939-103868007	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11627567	CKB	Cis_1M	lymphoblastoid	RTeQTL
rs11627567	CKB	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103850800-103851800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr14:103850800-103853600	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr14:103850800-103853600	Active TSS	Rectal Smooth Muscle	rectum
4	chr14:103850800-103854200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:103850800-103854400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr14:103851000-103852400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:103851000-103853000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr14:103851000-103853000	Active TSS	Brain Anterior Caudate	brain
9	chr14:103851000-103853200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:103851000-103853200	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr14:103851000-103853200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr14:103851000-103853200	Active TSS	Esophagus	oesophagus
13	chr14:103851000-103853200	Active TSS	Fetal Brain Female	brain
14	chr14:103851000-103853400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:103851000-103853400	Active TSS	Fetal Kidney	kidney
16	chr14:103851000-103853400	Active TSS	Osteobl	bone
17	chr14:103851000-103853600	Active TSS	H9 Cell Line	embryonic stem cell
18	chr14:103851000-103853600	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr14:103851000-103853800	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr14:103851000-103854200	Active TSS	Aorta	Aorta
21	chr14:103851000-103854200	Active TSS	HSMM	muscle
22	chr14:103851000-103855000	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr14:103851000-103855000	Active TSS	Right Atrium	heart
24	chr14:103851000-103855200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr14:103851200-103852000	Active TSS	Brain Germinal Matrix	brain
26	chr14:103851200-103852400	Active TSS	HepG2	liver
27	chr14:103851200-103852600	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
28	chr14:103851200-103852800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr14:103851200-103852800	Active TSS	Brain Hippocampus Middle	brain
30	chr14:103851200-103853000	Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr14:103851200-103853000	Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr14:103851200-103853000	Active TSS	Brain Substantia Nigra	brain
33	chr14:103851200-103853000	Active TSS	Small Intestine	intestine
34	chr14:103851200-103853200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:103851200-103853200	Active TSS	Fetal Heart	heart
36	chr14:103851200-103853200	Active TSS	Gastric	stomach
37	chr14:103851200-103853400	Active TSS	Colon Smooth Muscle	Colon
38	chr14:103851200-103853400	Active TSS	Fetal Stomach	stomach
39	chr14:103851200-103853400	Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr14:103851200-103853600	Active TSS	H1 Cell Line	embryonic stem cell
41	chr14:103851200-103853600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr14:103851200-103853600	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr14:103851200-103853800	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr14:103851200-103853800	Active TSS	Left Ventricle	heart
45	chr14:103851200-103853800	Active TSS	Lung	lung
46	chr14:103851200-103853800	Active TSS	Psoas Muscle	Psoas
47	chr14:103851200-103853800	Active TSS	A549	lung
48	chr14:103851200-103853800	Active TSS	HSMMtube	muscle
49	chr14:103851200-103854000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr14:103851200-103854000	Active TSS	Brain Angular Gyrus	brain

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