Variant report

Variant	rs11149819
Chromosome Location	chr16:75419516-75419517
allele	A/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	SMC3	chr16:75419282-75419868	Hela-S3	cervix:	n/a	chr16:75419619-75419633
2	CTCF	chr16:75419264-75419999	SK-N-SH	brain:	n/a	chr16:75419612-75419633 chr16:75419618-75419634 chr16:75419617-75419635 chr16:75419622-75419630
3	RAD21	chr16:75419455-75419761	A549	lung:	n/a	chr16:75419621-75419630 chr16:75419615-75419634
4	CTCF	chr16:75419485-75419783	Medullo	brain:	n/a	chr16:75419612-75419633 chr16:75419618-75419634 chr16:75419617-75419635 chr16:75419622-75419630
5	RAD21	chr16:75419339-75419984	HCT-116	colon:	n/a	chr16:75419621-75419630 chr16:75419615-75419634
6	CTCF	chr16:75419392-75419898	K562	blood:	n/a	chr16:75419612-75419633 chr16:75419618-75419634 chr16:75419617-75419635 chr16:75419622-75419630
7	CTCF	chr16:75419440-75419590	HAc	cerebellar:	n/a	n/a
8	RAD21	chr16:75419369-75419942	A549	lung:	n/a	chr16:75419621-75419630 chr16:75419615-75419634
9	TBL1XR1	chr16:75419485-75419827	K562	blood:	n/a	n/a
10	CTCF	chr16:75419514-75419689	MCF-7	breast:	n/a	chr16:75419612-75419633 chr16:75419618-75419634 chr16:75419617-75419635 chr16:75419622-75419630
11	CTCF	chr16:75419500-75419650	HUVEC	blood vessel:	n/a	chr16:75419612-75419633 chr16:75419618-75419634 chr16:75419617-75419635 chr16:75419622-75419630
12	CTCF	chr16:75419438-75419812	A549	lung:	n/a	chr16:75419612-75419633 chr16:75419618-75419634 chr16:75419617-75419635 chr16:75419622-75419630
13	SMC3	chr16:75419248-75420097	SK-N-SH	brain:	n/a	chr16:75419619-75419633
14	CTCF	chr16:75419500-75419650	BE2_C	brain:	n/a	chr16:75419612-75419633 chr16:75419618-75419634 chr16:75419617-75419635 chr16:75419622-75419630
15	CEBPB	chr16:75419489-75419862	ECC-1	luminal epithelium:	n/a	chr16:75419579-75419596 chr16:75419655-75419666
16	CTCF	chr16:75419420-75419570	NHLF	lung:	n/a	n/a
17	CTCF	chr16:75419504-75419652	T-47D	breast:	n/a	chr16:75419612-75419633 chr16:75419618-75419634 chr16:75419617-75419635 chr16:75419622-75419630
18	IRF1	chr16:75419469-75419725	K562	blood:	n/a	n/a
19	CTCF	chr16:75419500-75419650	HVMF	connective:	n/a	chr16:75419612-75419633 chr16:75419618-75419634 chr16:75419617-75419635 chr16:75419622-75419630
20	CTCF	chr16:75419500-75419650	GM12875	blood:	n/a	chr16:75419612-75419633 chr16:75419618-75419634 chr16:75419617-75419635 chr16:75419622-75419630
21	NFIC	chr16:75419318-75419912	ECC-1	luminal epithelium:	n/a	chr16:75419576-75419593 chr16:75419577-75419593
22	CTCF	chr16:75419449-75419723	SK-N-SH_RA	brain:	n/a	chr16:75419612-75419633 chr16:75419618-75419634 chr16:75419617-75419635 chr16:75419622-75419630
23	CEBPB	chr16:75419436-75419851	IMR90	lung:	n/a	chr16:75419579-75419596 chr16:75419655-75419666
24	CTCF	chr16:75419514-75419725	Kidney_OC	kidney:	n/a	chr16:75419612-75419633 chr16:75419618-75419634 chr16:75419617-75419635 chr16:75419622-75419630
25	RAD21	chr16:75419360-75419863	SK-N-SH_RA	brain:	n/a	chr16:75419621-75419630 chr16:75419615-75419634
26	CTCF	chr16:75419500-75419650	GM12864	blood:	n/a	chr16:75419612-75419633 chr16:75419618-75419634 chr16:75419617-75419635 chr16:75419622-75419630
27	RAD21	chr16:75419472-75419753	GM12878	blood:	n/a	chr16:75419621-75419630 chr16:75419615-75419634
28	CTCF	chr16:75419420-75419570	MCF-7	breast:	n/a	n/a
29	MYC	chr16:75419499-75419756	K562	blood:	n/a	n/a
30	CTCF	chr16:75419460-75419610	RPTEC	kidney:	n/a	n/a
31	CTCF	chr16:75419500-75419650	HCT-116	colon:	n/a	chr16:75419612-75419633 chr16:75419618-75419634 chr16:75419617-75419635 chr16:75419622-75419630
32	CTCF	chr16:75419476-75419888	MCF-7	breast:	n/a	chr16:75419612-75419633 chr16:75419618-75419634 chr16:75419617-75419635 chr16:75419622-75419630
33	RAD21	chr16:75419450-75419732	GM12878	blood:	n/a	chr16:75419621-75419630 chr16:75419615-75419634
34	CTCF	chr16:75419440-75419590	RPTEC	kidney:	n/a	n/a
35	RAD21	chr16:75419367-75419775	SK-N-SH_RA	brain:	n/a	chr16:75419621-75419630 chr16:75419615-75419634
36	CTCF	chr16:75419500-75419650	GM12865	blood:	n/a	chr16:75419612-75419633 chr16:75419618-75419634 chr16:75419617-75419635 chr16:75419622-75419630
37	RAD21	chr16:75419401-75419878	GM12878	blood:	n/a	chr16:75419621-75419630 chr16:75419615-75419634
38	CTCF	chr16:75419500-75419650	AoAF	blood vessel:	n/a	chr16:75419612-75419633 chr16:75419618-75419634 chr16:75419617-75419635 chr16:75419622-75419630
39	CTCF	chr16:75419500-75419650	HRE	kidney:	n/a	chr16:75419612-75419633 chr16:75419618-75419634 chr16:75419617-75419635 chr16:75419622-75419630
40	MYC	chr16:75419316-75419775	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr16:75419405-75419785	SK-N-SH	brain:	n/a	n/a
42	CTCF	chr16:75419500-75419650	GM12871	blood:	n/a	chr16:75419612-75419633 chr16:75419618-75419634 chr16:75419617-75419635 chr16:75419622-75419630
43	CTCF	chr16:75419500-75419650	HRPEpiC	eye:	n/a	chr16:75419612-75419633 chr16:75419618-75419634 chr16:75419617-75419635 chr16:75419622-75419630
44	NFIC	chr16:75419455-75419785	HepG2	liver:	n/a	chr16:75419576-75419593 chr16:75419577-75419593
45	STAT3	chr16:75419448-75419789	MCF10A-Er-Src	breast:	n/a	chr16:75419481-75419504
46	RAD21	chr16:75419236-75419900	MCF-7	breast:	n/a	chr16:75419621-75419630 chr16:75419615-75419634
47	SMC3	chr16:75419430-75419823	K562	blood:	n/a	chr16:75419619-75419633
48	RAD21	chr16:75419047-75420062	SK-N-SH	brain:	n/a	chr16:75419621-75419630 chr16:75419615-75419634
49	CEBPB	chr16:75419460-75419899	H1-hESC	embryonic stem cell:	n/a	chr16:75419579-75419596 chr16:75419655-75419666
50	CTCF	chr16:75419515-75419679	HepG2	liver:	n/a	chr16:75419612-75419633 chr16:75419618-75419634 chr16:75419617-75419635 chr16:75419622-75419630

No.	Distal block	Cell Line	Cell type
1	chr16:75412331..75414495-chr16:75417968..75420551,3	MCF-7	breast:
2	chr16:75283652..75287185-chr16:75416516..75421330,4	MCF-7	breast:
3	chr16:75267828..75268434-chr16:75419147..75419726,2	MCF-7	breast:
4	chr16:75298505..75301091-chr16:75417332..75420009,3	MCF-7	breast:
5	chr16:75417976..75420209-chr16:75681651..75683174,2	K562	blood:
6	chr16:75414144..75417652-chr16:75418328..75421095,3	K562	blood:
7	chr16:74743020..74743983-chr16:75419171..75419681,2	K562	blood:
8	chr16:75267476..75268387-chr16:75418859..75420095,9	MCF-7	breast:
9	chr16:75233289..75233811-chr16:75419263..75420126,2	MCF-7	breast:
10	chr16:75267417..75268393-chr16:75419148..75420038,5	K562	blood:
11	chr10:12016995..12017518-chr16:75419410..75419972,2	K562	blood:

Variant related genes	Relation type
ENSG00000261783	TF binding region
ENSG00000050820	Chromatin interaction
ENSG00000166848	Chromatin interaction
ENSG00000261783	Chromatin interaction
ENSG00000065427	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs166012	0.93[EUR][1000 genomes]
rs173526	0.84[EUR][1000 genomes]
rs247440	0.93[EUR][1000 genomes]
rs247446	0.90[EUR][1000 genomes]
rs37603	0.83[EUR][1000 genomes]
rs42471	0.90[EUR][1000 genomes]
rs7192981	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv1065995	chr16:75373756-75626027	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	esv2422358	chr16:75381762-75456763	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1063718	chr16:75395969-75608071	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
6	nsv525232	chr16:75402361-75439132	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv525466	chr16:75402361-75439132	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75338800-75426400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr16:75358400-75421400	Weak transcription	K562	blood
3	chr16:75376600-75426800	Weak transcription	Brain Germinal Matrix	brain
4	chr16:75377000-75424400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr16:75377000-75426400	Weak transcription	Gastric	stomach
6	chr16:75377200-75424000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr16:75377400-75426400	Weak transcription	Pancreas	Pancrea
8	chr16:75392400-75422000	Weak transcription	Aorta	Aorta
9	chr16:75396200-75421200	Weak transcription	Lung	lung
10	chr16:75399600-75426800	Weak transcription	Esophagus	oesophagus
11	chr16:75403600-75426800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr16:75404000-75422600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr16:75406000-75453400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr16:75406600-75422800	Weak transcription	Colon Smooth Muscle	Colon
15	chr16:75406600-75426400	Weak transcription	Psoas Muscle	Psoas
16	chr16:75407200-75454200	Weak transcription	Stomach Mucosa	stomach
17	chr16:75408400-75424600	Weak transcription	Fetal Brain Female	brain
18	chr16:75409200-75445400	Weak transcription	Colonic Mucosa	Colon
19	chr16:75411000-75421200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr16:75411800-75422400	Weak transcription	Fetal Brain Male	brain
21	chr16:75412000-75425600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr16:75412000-75426000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr16:75412000-75426600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr16:75412000-75426800	Weak transcription	Spleen	Spleen
25	chr16:75412200-75421600	Weak transcription	Fetal Kidney	kidney
26	chr16:75412200-75422400	Weak transcription	Right Atrium	heart
27	chr16:75412200-75422800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr16:75412200-75424000	Weak transcription	Fetal Stomach	stomach
29	chr16:75412200-75424000	Weak transcription	Ovary	ovary
30	chr16:75412200-75424600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr16:75412200-75426400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr16:75412200-75426600	Weak transcription	Brain Angular Gyrus	brain
33	chr16:75412200-75426600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr16:75412200-75428000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr16:75412400-75421400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr16:75412400-75424000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr16:75412400-75425200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr16:75412400-75426600	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr16:75412600-75421400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr16:75412600-75421400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr16:75412600-75422000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr16:75412600-75423200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr16:75412600-75424600	Weak transcription	Placenta	Placenta
44	chr16:75412600-75426000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr16:75412600-75426800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr16:75412600-75446000	Weak transcription	Brain Substantia Nigra	brain
47	chr16:75412800-75422800	Weak transcription	Brain Hippocampus Middle	brain
48	chr16:75412800-75423800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr16:75412800-75424400	Weak transcription	Brain Anterior Caudate	brain
50	chr16:75412800-75424600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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