Variant report

Variant	rs73932029
Chromosome Location	chr19:42211509-42211510
allele	C/G
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	chr19:42211420-42211570	GM12870	blood:	n/a	n/a
2	CTCF	chr19:42210399-42211842	MCF-7	breast:	n/a	chr19:42210745-42210754 chr19:42210744-42210765 chr19:42211587-42211596 chr19:42210743-42210759 chr19:42210747-42210757 chr19:42210742-42210760 chr19:42211584-42211602 chr19:42210745-42210758 chr19:42210745-42210758
3	CTCF	chr19:42211455-42211687	MCF-7	breast:	n/a	chr19:42211587-42211596 chr19:42211584-42211602
4	CTCF	chr19:42211460-42211610	GM12869	blood:	n/a	chr19:42211587-42211596 chr19:42211584-42211602
5	CTCF	chr19:42211477-42211673	K562	blood:	n/a	chr19:42211587-42211596 chr19:42211584-42211602
6	CTCF	chr19:42208811-42212212	A549	lung:	n/a	chr19:42210745-42210754 chr19:42210744-42210765 chr19:42211587-42211596 chr19:42210743-42210759 chr19:42209068-42209076 chr19:42210747-42210757 chr19:42210742-42210760 chr19:42211584-42211602 chr19:42210745-42210758 chr19:42210745-42210758
7	CTCF	chr19:42211486-42211746	HepG2	liver:	n/a	chr19:42211587-42211596 chr19:42211584-42211602
8	CTCF	chr19:42211465-42211691	MCF-7	breast:	n/a	chr19:42211587-42211596 chr19:42211584-42211602
9	CTCF	chr19:42211494-42211662	HepG2	liver:	n/a	chr19:42211587-42211596 chr19:42211584-42211602
10	CTCF	chr19:42211440-42211590	HFF-Myc	foreskin:	n/a	n/a
11	CTCF	chr19:42211506-42211681	A549	lung:	n/a	chr19:42211587-42211596 chr19:42211584-42211602
12	CTCF	chr19:42211500-42211650	GM12867	blood:	n/a	chr19:42211587-42211596 chr19:42211584-42211602
13	CTCF	chr19:42211500-42211650	Caco-2	colon:	n/a	chr19:42211587-42211596 chr19:42211584-42211602
14	CTCF	chr19:42211480-42211630	SK-N-SH_RA	brain:	n/a	chr19:42211587-42211596 chr19:42211584-42211602
15	CTCF	chr19:42211444-42211674	A549	lung:	n/a	chr19:42211587-42211596 chr19:42211584-42211602
16	CTCF	chr19:42211360-42211510	GM12871	blood:	n/a	n/a
17	CTCF	chr19:42211480-42211630	AG04449	skin:	n/a	chr19:42211587-42211596 chr19:42211584-42211602
18	CTCF	chr19:42211393-42211798	MCF-7	breast:	n/a	chr19:42211587-42211596 chr19:42211584-42211602
19	CTCF	chr19:42211433-42211658	K562	blood:	n/a	chr19:42211587-42211596 chr19:42211584-42211602
20	CTCF	chr19:42211500-42211650	Hela-S3	cervix:	n/a	chr19:42211587-42211596 chr19:42211584-42211602
21	CTCF	chr19:42211482-42211710	K562	blood:	n/a	chr19:42211587-42211596 chr19:42211584-42211602
22	CTCF	chr19:42211460-42211610	GM12875	blood:	n/a	chr19:42211587-42211596 chr19:42211584-42211602
23	CTCF	chr19:42211500-42211650	NB4	blood:	n/a	chr19:42211587-42211596 chr19:42211584-42211602
24	CTCF	chr19:42211480-42211630	GM12869	blood:	n/a	chr19:42211587-42211596 chr19:42211584-42211602
25	CTCF	chr19:42211500-42211650	K562	blood:	n/a	chr19:42211587-42211596 chr19:42211584-42211602
26	CTCF	chr19:42211332-42211797	K562	blood:	n/a	chr19:42211587-42211596 chr19:42211584-42211602
27	CTCF	chr19:42211500-42211650	A549	lung:	n/a	chr19:42211587-42211596 chr19:42211584-42211602
28	CTCF	chr19:42210208-42211748	HCT-116	colon:	n/a	chr19:42210745-42210754 chr19:42210744-42210765 chr19:42211587-42211596 chr19:42210743-42210759 chr19:42210747-42210757 chr19:42210742-42210760 chr19:42211584-42211602 chr19:42210745-42210758 chr19:42210745-42210758
29	CTCF	chr19:42211491-42211681	MCF-7	breast:	n/a	chr19:42211587-42211596 chr19:42211584-42211602
30	CTCF	chr19:42211505-42211679	GM12891	blood:	n/a	chr19:42211587-42211596 chr19:42211584-42211602
31	CTCF	chr19:42211500-42211650	HMF	breast:	n/a	chr19:42211587-42211596 chr19:42211584-42211602
32	CTCF	chr19:42211487-42211694	MCF-7	breast:	n/a	chr19:42211587-42211596 chr19:42211584-42211602
33	CTCF	chr19:42211500-42211650	GM12875	blood:	n/a	chr19:42211587-42211596 chr19:42211584-42211602
34	CTCF	chr19:42211440-42211590	BE2_C	brain:	n/a	n/a
35	CTCF	chr19:42211480-42211630	GM12872	blood:	n/a	chr19:42211587-42211596 chr19:42211584-42211602
36	CTCF	chr19:42211480-42211630	HepG2	liver:	n/a	chr19:42211587-42211596 chr19:42211584-42211602
37	REST	chr19:42208676-42211670	A549	lung:	n/a	chr19:42209562-42209582 chr19:42211482-42211495 chr19:42209563-42209581 chr19:42209569-42209582 chr19:42209564-42209572 chr19:42209566-42209579 chr19:42210720-42210729 chr19:42209562-42209582 chr19:42211402-42211415 chr19:42209562-42209576 chr19:42209573-42209582 chr19:42209568-42209577 chr19:42210493-42210506 chr19:42209689-42209702 chr19:42209562-42209582
38	CTCF	chr19:42211500-42211650	GM12864	blood:	n/a	chr19:42211587-42211596 chr19:42211584-42211602
39	CTCF	chr19:42211480-42211630	GM12864	blood:	n/a	chr19:42211587-42211596 chr19:42211584-42211602
40	CTCF	chr19:42211440-42211590	GM12865	blood:	n/a	n/a
41	CTCF	chr19:42211500-42211650	HepG2	liver:	n/a	chr19:42211587-42211596 chr19:42211584-42211602
42	CTCF	chr19:42210347-42211724	SK-N-SH	brain:	n/a	chr19:42210745-42210754 chr19:42210744-42210765 chr19:42211587-42211596 chr19:42210743-42210759 chr19:42210747-42210757 chr19:42210742-42210760 chr19:42211584-42211602 chr19:42210745-42210758 chr19:42210745-42210758
43	CTCF	chr19:42211325-42211809	A549	lung:	n/a	chr19:42211587-42211596 chr19:42211584-42211602
44	CTCF	chr19:42211480-42211630	HCT-116	colon:	n/a	chr19:42211587-42211596 chr19:42211584-42211602
45	CTCF	chr19:42211469-42211687	MCF-7	breast:	n/a	chr19:42211587-42211596 chr19:42211584-42211602
46	CTCF	chr19:42211508-42211665	Gliobla	brain:	n/a	chr19:42211587-42211596 chr19:42211584-42211602
47	CTCF	chr19:42211440-42211590	Caco-2	colon:	n/a	n/a
48	CTCF	chr19:42211500-42211650	RPTEC	kidney:	n/a	chr19:42211587-42211596 chr19:42211584-42211602
49	CTCF	chr19:42211500-42211650	GM06990	blood:	n/a	chr19:42211587-42211596 chr19:42211584-42211602
50	CTCF	chr19:42211460-42211610	GM12865	blood:	n/a	chr19:42211587-42211596 chr19:42211584-42211602

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:42211479-42211529	HepG2	liver:	n/a
2	chr19:42211479-42211529	HCPEpiC	choroid plexus:	n/a
3	chr19:42211479-42211529	Hepatocyte	liver:	n/a
4	chr19:42211479-42211529	T-47D	breast:	n/a
5	chr19:42211479-42211529	NHBE	bronchial:	n/a
6	chr19:42211479-42211529	NT2-D1	testis:	n/a
7	chr19:42211479-42211529	HEEpiC	esophagus:	n/a
8	chr19:42211479-42211529	GM19239	blood:	n/a
9	chr19:42211479-42211529	HAEpiC	amniotic membrane:	n/a
10	chr19:42211479-42211529	SK-N-SH	brain:	n/a
11	chr19:42211479-42211529	NB4	blood:	n/a
12	chr19:42211479-42211529	PrEC	prostate:	n/a
13	chr19:42211479-42211529	NHDF-neo	bronchial:	n/a
14	chr19:42211479-42211529	HRE	kidney:	n/a
15	chr19:42211479-42211529	SAEC	small airway:	n/a
16	chr19:42211479-42211529	SKMC	muscle:	n/a
17	chr19:42211479-42211529	HRCEpiC	kidney:	n/a
18	chr19:42211479-42211529	AoSMC	blood vessel:	n/a
19	chr19:42211479-42211529	NH-A	brain:	n/a
20	chr19:42211479-42211529	HPAEpiC	pulmonary alveolar:	n/a
21	chr19:42211479-42211529	HMEC	breast:	n/a
22	chr19:42211479-42211529	HEK293	kidney:	embryo
23	chr19:42211479-42211529	LNCaP	prostate:	n/a
24	chr19:42211479-42211529	BJ	skin:	n/a
25	chr19:42211479-42211529	AG04449	skin:	fetal
26	chr19:42211479-42211529	HNPCEpiC	eye:	n/a
27	chr19:42211479-42211529	ovcar-3	ovarian:	n/a
28	chr19:42211479-42211529	GM12892	blood:	n/a
29	chr19:42211479-42211529	GM12878	blood:	n/a
30	chr19:42211479-42211529	AG09319	gingival:	n/a
31	chr19:42211479-42211529	GM12891	blood:	n/a
32	chr19:42211479-42211529	HIPEpiC	eye:	n/a
33	chr19:42211479-42211529	U87	brain:	n/a
34	chr19:42211479-42211529	RPTEC	kidney:	n/a
35	chr19:42211479-42211529	Caco-2	colon:	n/a
36	chr19:42211479-42211529	MCF10A-Er-Src	breast:	n/a
37	chr19:42211479-42211529	HCF	heart:	n/a
38	chr19:42211479-42211529	A549	lung:	n/a
39	chr19:42211479-42211529	Hela-S3	cervix:	n/a
40	chr19:42211479-42211529	AG10803	skin:	n/a
41	chr19:42211479-42211529	GM06990	blood:	n/a
42	chr19:42211479-42211529	CMK	blood:	n/a
43	chr19:42211479-42211529	H1-hESC	embryonic stem cell:	embryo
44	chr19:42211479-42211529	HUVEC	blood vessel:	n/a
45	chr19:42211479-42211529	HL-60	blood:	n/a
46	chr19:42211479-42211529	ProgFib	skin:	n/a
47	chr19:42211479-42211529	K562	blood:	n/a
48	chr19:42211479-42211529	PANC-1	pancreas:	n/a
49	chr19:42211479-42211529	SK-N-MC	brain:	n/a
50	chr19:42211479-42211529	AG04450	lung:	fetal

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42211491..42212027-chr19:42250292..42251139,2	K562	blood:
2	chr19:42211076..42212814-chr19:42288522..42291440,2	MCF-7	breast:

Variant related genes	Relation type
CEACAM7	TF binding region
CEACAM5	TF binding region
ENSG00000267881	TF binding region
ENSG00000267881	CpG island
CEACAM7	CpG island
CEACAM5	CpG island
ENSG00000268833	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12327741	1.00[AMR][1000 genomes]
rs28439053	1.00[AMR][1000 genomes]
rs56147895	1.00[AMR][1000 genomes]
rs57916682	1.00[AMR][1000 genomes]
rs73931709	1.00[AMR][1000 genomes]
rs73931721	1.00[AMR][1000 genomes]
rs73931726	1.00[AMR][1000 genomes]
rs73931737	1.00[AMR][1000 genomes]
rs73931741	1.00[AMR][1000 genomes]
rs73931745	1.00[AMR][1000 genomes]
rs73931765	1.00[AMR][1000 genomes]
rs73932004	1.00[AMR][1000 genomes]
rs73932020	1.00[AMR][1000 genomes]
rs73932021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73932023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73932033	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73934070	1.00[AMR][1000 genomes]
rs73934071	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3319146	chr19:42082639-42212929	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv3319147	chr19:42082742-42212770	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3422975	chr19:42106166-42212774	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
5	nsv1061309	chr19:42187716-42228445	Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42210200-42211600	Bivalent Enhancer	Stomach Mucosa	stomach
2	chr19:42210800-42211600	Enhancers	Fetal Intestine Large	intestine
3	chr19:42210800-42211800	Enhancers	Esophagus	oesophagus
4	chr19:42210800-42212000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:42210800-42212000	Enhancers	Spleen	Spleen
6	chr19:42210800-42212400	Flanking Active TSS	Colonic Mucosa	Colon
7	chr19:42211000-42211600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr19:42211000-42212400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
9	chr19:42211000-42214200	Active TSS	Rectal Smooth Muscle	rectum
10	chr19:42211200-42211800	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr19:42211200-42212000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
12	chr19:42211200-42212600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
13	chr19:42211400-42211600	Enhancers	A549	lung
14	chr19:42211400-42212600	Weak transcription	Fetal Intestine Small	intestine

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