Variant report

Variant	rs41415047
Chromosome Location	chr19:43033363-43033364
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	RAD21	chr19:43033317-43033854	H1-hESC	embryonic stem cell:	n/a	chr19:43033583-43033602 chr19:43033676-43033686
2	TEAD4	chr19:43033358-43033757	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr19:43033147-43034049	HCT-116	colon:	n/a	chr19:43033583-43033602 chr19:43033676-43033686
4	REST	chr19:43033334-43033827	A549	lung:	n/a	n/a
5	RAD21	chr19:43033139-43034045	A549	lung:	n/a	chr19:43033583-43033602 chr19:43033676-43033686
6	REST	chr19:43033285-43034022	A549	lung:	n/a	n/a
7	SIN3AK20	chr19:43033352-43033769	A549	lung:	n/a	n/a
8	WRNIP1	chr19:43033315-43033879	GM12878	blood:	n/a	n/a
9	MBD4	chr19:43033350-43033995	HepG2	liver:	n/a	n/a
10	ZEB1	chr19:43033333-43033752	GM12878	blood:	n/a	n/a
11	CTCF	chr19:43033361-43034005	H1-hESC	embryonic stem cell:	n/a	chr19:43033585-43033603 chr19:43033591-43033600
12	SP1	chr19:43033354-43033806	GM12878	blood:	n/a	n/a
13	NFE2	chr19:43033268-43033631	GM12878	blood:	n/a	n/a
14	ELF1	chr19:43032363-43033854	GM12878	blood:	n/a	n/a
15	POLR2A	chr19:43032930-43033678	HepG2	liver:	n/a	n/a
16	MYBL2	chr19:43033344-43033855	HepG2	liver:	n/a	n/a
17	CTCF	chr19:43033363-43034005	K562	blood:	n/a	chr19:43033585-43033603 chr19:43033591-43033600
18	NFIC	chr19:43033075-43033760	HepG2	liver:	n/a	n/a
19	CTCF	chr19:43033349-43033928	A549	lung:	n/a	chr19:43033585-43033603 chr19:43033591-43033600
20	RAD21	chr19:43033333-43033972	HCT-116	colon:	n/a	chr19:43033583-43033602 chr19:43033676-43033686
21	RAD21	chr19:43033215-43033971	MCF-7	breast:	n/a	chr19:43033583-43033602 chr19:43033676-43033686
22	RAD21	chr19:43033303-43033830	ECC-1	luminal epithelium:	n/a	chr19:43033583-43033602 chr19:43033676-43033686
23	CTCF	chr19:43031752-43034268	A549	lung:	n/a	chr19:43033585-43033603 chr19:43033591-43033600
24	RUNX3	chr19:43033192-43033755	GM12878	blood:	n/a	n/a
25	POLR2A	chr19:43032389-43033651	HepG2	liver:	n/a	n/a
26	STAT5A	chr19:43033236-43033924	GM12878	blood:	n/a	n/a
27	RAD21	chr19:43033344-43033746	GM12878	blood:	n/a	chr19:43033583-43033602 chr19:43033676-43033686
28	RAD21	chr19:43033286-43034001	HepG2	liver:	n/a	chr19:43033583-43033602 chr19:43033676-43033686
29	CTCF	chr19:43033207-43034168	HCT-116	colon:	n/a	chr19:43033585-43033603 chr19:43033591-43033600
30	CHD2	chr19:43032516-43033740	GM12878	blood:	n/a	n/a
31	CTCF	chr19:43033341-43033970	GM12878	blood:	n/a	chr19:43033585-43033603 chr19:43033591-43033600
32	TBL1XR1	chr19:43033286-43033755	GM12878	blood:	n/a	n/a
33	CTCF	chr19:43033220-43033370	HEK293	kidney:	n/a	n/a
34	POLR2A	chr19:43032313-43033658	GM12891	blood:	n/a	n/a
35	RAD21	chr19:43033213-43033820	GM12878	blood:	n/a	chr19:43033583-43033602 chr19:43033676-43033686
36	ZNF143	chr19:43033283-43033773	GM12878	blood:	n/a	n/a
37	SMC3	chr19:43032420-43033878	GM12878	blood:	n/a	chr19:43032528-43032542
38	RAD21	chr19:43033247-43033950	SK-N-SH	brain:	n/a	chr19:43033583-43033602 chr19:43033676-43033686
39	CTCF	chr19:43033269-43034047	HCT-116	colon:	n/a	chr19:43033585-43033603 chr19:43033591-43033600
40	CTCF	chr19:43033354-43034028	HepG2	liver:	n/a	chr19:43033585-43033603 chr19:43033591-43033600
41	POLR2A	chr19:43032318-43033643	HepG2	liver:	n/a	n/a
42	RUNX3	chr19:43033152-43033808	GM12878	blood:	n/a	n/a
43	TCF12	chr19:43033093-43034018	A549	lung:	n/a	chr19:43033361-43033368
44	RCOR1	chr19:43033355-43033846	HepG2	liver:	n/a	n/a
45	RAD21	chr19:43033313-43033825	SK-N-SH_RA	brain:	n/a	chr19:43033583-43033602 chr19:43033676-43033686
46	SMC3	chr19:43033190-43034066	SK-N-SH	brain:	n/a	n/a
47	RAD21	chr19:43033206-43033995	HepG2	liver:	n/a	chr19:43033583-43033602 chr19:43033676-43033686
48	SMC3	chr19:43033201-43034011	HepG2	liver:	n/a	n/a
49	IRF4	chr19:43033356-43033806	GM12878	blood:	n/a	n/a
50	RAD21	chr19:43033289-43033901	A549	lung:	n/a	chr19:43033583-43033602 chr19:43033676-43033686

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:43033362-43033412	HUVEC	blood vessel:	n/a
2	chr19:43033362-43033412	A549	lung:	n/a
3	chr19:43033362-43033412	HCM	heart:	n/a
4	chr19:43033362-43033412	HEEpiC	esophagus:	n/a
5	chr19:43033362-43033412	AG09319	gingival:	n/a
6	chr19:43033362-43033412	HIPEpiC	eye:	n/a
7	chr19:43033362-43033412	NHBE	bronchial:	n/a
8	chr19:43033362-43033412	HPAEpiC	pulmonary alveolar:	n/a
9	chr19:43033362-43033412	NB4	blood:	n/a
10	chr19:43033362-43033412	HCT-116	colon:	n/a
11	chr19:43033362-43033412	GM06990	blood:	n/a
12	chr19:43033362-43033412	RPTEC	kidney:	n/a
13	chr19:43033362-43033412	AoSMC	blood vessel:	n/a
14	chr19:43033362-43033412	MCF-7	breast:	n/a
15	chr19:43033362-43033412	PrEC	prostate:	n/a
16	chr19:43033362-43033412	U87	brain:	n/a
17	chr19:43033362-43033412	LNCaP	prostate:	n/a
18	chr19:43033362-43033412	ECC-1	luminal epithelium:	n/a
19	chr19:43033362-43033412	GM12892	blood:	n/a
20	chr19:43033362-43033412	NHDF-neo	bronchial:	n/a
21	chr19:43033362-43033412	GM12891	blood:	n/a
22	chr19:43033362-43033412	HCF	heart:	n/a
23	chr19:43033362-43033412	CMK	blood:	n/a
24	chr19:43033362-43033412	SK-N-SH_RA	brain:	n/a
25	chr19:43033362-43033412	BJ	skin:	n/a
26	chr19:43033362-43033412	MCF10A-Er-Src	breast:	n/a
27	chr19:43033362-43033412	GM12878	blood:	n/a
28	chr19:43033362-43033412	HEK293	kidney:	embryo
29	chr19:43033362-43033412	ovcar-3	ovarian:	n/a
30	chr19:43033362-43033412	AG04450	lung:	fetal
31	chr19:43033362-43033412	T-47D	breast:	n/a
32	chr19:43033362-43033412	HAEpiC	amniotic membrane:	n/a
33	chr19:43033362-43033412	BE2_C	brain:	n/a
34	chr19:43033362-43033412	HL-60	blood:	n/a
35	chr19:43033362-43033412	Jurkat	blood:	n/a
36	chr19:43033362-43033412	SK-N-SH	brain:	n/a
37	chr19:43033362-43033412	PFSK-1	brain:	n/a
38	chr19:43033362-43033412	Hepatocyte	liver:	n/a
39	chr19:43033362-43033412	HRE	kidney:	n/a
40	chr19:43033362-43033412	SAEC	small airway:	n/a
41	chr19:43033362-43033412	H1-hESC	embryonic stem cell:	embryo
42	chr19:43033362-43033412	ProgFib	skin:	n/a
43	chr19:43033362-43033412	HCPEpiC	choroid plexus:	n/a
44	chr19:43033362-43033412	PANC-1	pancreas:	n/a
45	chr19:43033362-43033412	NT2-D1	testis:	n/a
46	chr19:43033362-43033412	AG09309	skin:	n/a
47	chr19:43033362-43033412	AG04449	skin:	fetal
48	chr19:43033362-43033412	SK-N-MC	brain:	n/a
49	chr19:43033362-43033412	HRCEpiC	kidney:	n/a
50	chr19:43033362-43033412	Caco-2	colon:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:42954321..42955243-chr19:43033178..43034138,5	MCF-7	breast:
2	chr19:42954301..42955305-chr19:43033122..43034033,12	MCF-7	breast:
3	chr19:42954315..42955211-chr19:43033063..43034067,7	K562	blood:
4	chr19:42942358..42943244-chr19:43033307..43034019,3	MCF-7	breast:

Variant related genes	Relation type
CEACAM1	TF binding region
CEACAM1	CpG island

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs35241185	1.00[AMR][1000 genomes]
rs41355544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45584637	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
2	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
3	esv2422468	chr19:42991289-43669027	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1057390	chr19:43003323-43173028	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43030400-43033400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
2	chr19:43030400-43033600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr19:43030400-43033600	Active TSS	Rectal Smooth Muscle	rectum
4	chr19:43031000-43033600	Enhancers	Spleen	Spleen
5	chr19:43031200-43033600	Flanking Active TSS	Duodenum Mucosa	Duodenum
6	chr19:43031400-43033600	Flanking Active TSS	Liver	Liver
7	chr19:43031600-43033600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr19:43031600-43033600	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr19:43031600-43033600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr19:43031800-43033600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr19:43032000-43033400	Enhancers	Brain Cingulate Gyrus	brain
12	chr19:43032000-43033400	Enhancers	A549	lung
13	chr19:43032000-43033600	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr19:43032000-43033600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr19:43032000-43033600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr19:43032000-43033600	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr19:43032000-43033600	Enhancers	Fetal Muscle Leg	muscle
18	chr19:43032000-43033600	Enhancers	Gastric	stomach
19	chr19:43032000-43033800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr19:43032200-43033400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
21	chr19:43032200-43033400	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr19:43032200-43033600	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr19:43032200-43033600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr19:43032200-43033600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr19:43032200-43033600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr19:43032200-43033600	Flanking Active TSS	Fetal Intestine Small	intestine
27	chr19:43032200-43033600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
28	chr19:43032200-43033600	Flanking Active TSS	GM12878-XiMat	blood
29	chr19:43032200-43033800	Enhancers	Lung	lung
30	chr19:43032400-43033400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr19:43032400-43033400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr19:43032400-43033400	Enhancers	Pancreas	Pancrea
33	chr19:43032400-43033400	Enhancers	Thymus	Thymus
34	chr19:43032400-43033400	Flanking Active TSS	Dnd41	blood
35	chr19:43032400-43033400	Flanking Active TSS	HMEC	breast
36	chr19:43032400-43033600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr19:43032400-43033600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
38	chr19:43032400-43033600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr19:43032400-43033600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr19:43032400-43033600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr19:43032400-43033600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr19:43032400-43033600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr19:43032400-43033600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr19:43032400-43033600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr19:43032400-43033600	Flanking Active TSS	Colonic Mucosa	Colon
46	chr19:43032400-43033600	Enhancers	Fetal Lung	lung
47	chr19:43032400-43033600	Enhancers	Placenta	Placenta
48	chr19:43032400-43033600	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr19:43032400-43033600	Flanking Active TSS	Stomach Mucosa	stomach
50	chr19:43032400-43033600	Enhancers	HUVEC	blood vessel

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