Variant report

Variant	rs550810862
Chromosome Location	chr19:21665677-21665678
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	chr19:21665560-21665910	K562	blood:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665874-21665887 chr19:21665754-21665770 chr19:21665755-21665768
2	RAD21	chr19:21665533-21666181	H1-hESC	embryonic stem cell:	n/a	chr19:21666133-21666143 chr19:21665751-21665770
3	CTCF	chr19:21665660-21665810	HBMEC	blood vessel:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665754-21665770 chr19:21665755-21665768
4	CTCF	chr19:21665634-21665901	Kidney_OC	kidney:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665874-21665887 chr19:21665754-21665770 chr19:21665755-21665768
5	CTCF	chr19:21665660-21665810	HCT-116	colon:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665754-21665770 chr19:21665755-21665768
6	RAD21	chr19:21665491-21665971	ECC-1	luminal epithelium:	n/a	chr19:21665751-21665770
7	RAD21	chr19:21665560-21665988	HCT-116	colon:	n/a	chr19:21665751-21665770
8	CTCF	chr19:21665628-21665907	LNCaP	prostate:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665874-21665887 chr19:21665754-21665770 chr19:21665755-21665768
9	EGR1	chr19:21665577-21665908	K562	blood:	n/a	chr19:21665734-21665749 chr19:21665735-21665748 chr19:21665735-21665748 chr19:21665735-21665749 chr19:21665737-21665747 chr19:21665738-21665747 chr19:21665735-21665748 chr19:21665736-21665747 chr19:21665737-21665746 chr19:21665736-21665747 chr19:21665737-21665747 chr19:21665731-21665753
10	CTCF	chr19:21665670-21665847	HUVEC	blood vessel:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665754-21665770 chr19:21665755-21665768
11	CTCF	chr19:21665580-21665730	HAc	cerebellar:	n/a	n/a
12	CTCF	chr19:21665660-21665810	NHEK	skin:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665754-21665770 chr19:21665755-21665768
13	ZNF143	chr19:21665629-21666181	K562	blood:	n/a	n/a
14	EGR1	chr19:21665538-21665974	H1-hESC	embryonic stem cell:	n/a	chr19:21665734-21665749 chr19:21665735-21665748 chr19:21665735-21665748 chr19:21665735-21665749 chr19:21665737-21665747 chr19:21665738-21665747 chr19:21665735-21665748 chr19:21665736-21665747 chr19:21665737-21665746 chr19:21665736-21665747 chr19:21665737-21665747 chr19:21665731-21665753
15	ELK1	chr19:21665666-21666180	K562	blood:	n/a	n/a
16	CTCF	chr19:21665640-21665790	AG09319	gingival:	n/a	chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665754-21665770 chr19:21665755-21665768
17	CTCF	chr19:21665661-21665889	GM20000	blood:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665874-21665887 chr19:21665754-21665770 chr19:21665755-21665768
18	CTCF	chr19:21665554-21665955	HCT-116	colon:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665874-21665887 chr19:21665754-21665770 chr19:21665755-21665768
19	CTCF	chr19:21665660-21665810	A549	lung:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665754-21665770 chr19:21665755-21665768
20	SMC3	chr19:21665623-21666178	Hela-S3	cervix:	n/a	chr19:21665755-21665769
21	RAD21	chr19:21665631-21665864	K562	blood:	n/a	chr19:21665751-21665770
22	SMC3	chr19:21665561-21666135	SK-N-SH	brain:	n/a	chr19:21665755-21665769
23	RAD21	chr19:21665543-21666179	HepG2	liver:	n/a	chr19:21666133-21666143 chr19:21665751-21665770
24	CTCF	chr19:21665660-21665810	BE2_C	brain:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665754-21665770 chr19:21665755-21665768
25	CTCF	chr19:21665638-21665916	Spleen_OC	spleen:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665874-21665887 chr19:21665754-21665770 chr19:21665755-21665768
26	EGR1	chr19:21665618-21665890	K562	blood:	n/a	chr19:21665734-21665749 chr19:21665735-21665748 chr19:21665735-21665748 chr19:21665735-21665749 chr19:21665737-21665747 chr19:21665738-21665747 chr19:21665735-21665748 chr19:21665736-21665747 chr19:21665737-21665746 chr19:21665736-21665747 chr19:21665737-21665747 chr19:21665731-21665753
27	CTCF	chr19:21665663-21665919	ProgFib	skin:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665874-21665887 chr19:21665754-21665770 chr19:21665755-21665768
28	CTCF	chr19:21665660-21665870	GM12869	blood:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665754-21665770 chr19:21665755-21665768
29	CTCF	chr19:21665563-21665916	T-47D	breast:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665874-21665887 chr19:21665754-21665770 chr19:21665755-21665768
30	CTCF	chr19:21665629-21665892	Medullo	brain:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665874-21665887 chr19:21665754-21665770 chr19:21665755-21665768
31	CBX3	chr19:21665672-21665913	K562	blood:	n/a	n/a
32	CTCF	chr19:21665592-21666181	GM12878	blood:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665874-21665887 chr19:21665754-21665770 chr19:21665755-21665768
33	POU2F2	chr19:21665555-21665873	GM12891	blood:	n/a	chr19:21665692-21665705 chr19:21665687-21665708
34	CTCF	chr19:21665660-21665810	WI-38	lung:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665754-21665770 chr19:21665755-21665768
35	CTCF	chr19:21665660-21665810	HUVEC	blood vessel:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665754-21665770 chr19:21665755-21665768
36	RAD21	chr19:21665618-21666053	Hela-S3	cervix:	n/a	chr19:21665751-21665770
37	CTCF	chr19:21665660-21665810	GM12878	blood:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665754-21665770 chr19:21665755-21665768
38	CTCF	chr19:21665618-21666175	IMR90	lung:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665874-21665887 chr19:21665754-21665770 chr19:21665755-21665768
39	RAD21	chr19:21665555-21665857	SK-N-SH_RA	brain:	n/a	chr19:21665751-21665770
40	CTCF	chr19:21665640-21665790	HPF	lung:	n/a	chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665754-21665770 chr19:21665755-21665768
41	CTCF	chr19:21665552-21665870	HepG2	liver:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665754-21665770 chr19:21665755-21665768
42	CTCF	chr19:21665646-21665907	K562	blood:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665874-21665887 chr19:21665754-21665770 chr19:21665755-21665768
43	CTCF	chr19:21665635-21665850	HepG2	liver:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665754-21665770 chr19:21665755-21665768
44	CTCF	chr19:21665652-21665881	LNCaP	prostate:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665754-21665770 chr19:21665755-21665768
45	RAD21	chr19:21665504-21665944	HCT-116	colon:	n/a	chr19:21665751-21665770
46	CTCF	chr19:21665566-21666181	K562	blood:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665874-21665887 chr19:21665754-21665770 chr19:21665755-21665768
47	RAD21	chr19:21665601-21665899	K562	blood:	n/a	chr19:21665751-21665770
48	RAD21	chr19:21665498-21666068	H1-hESC	embryonic stem cell:	n/a	chr19:21665751-21665770
49	CTCF	chr19:21665632-21665882	Lung_OC	lung:	n/a	chr19:21665789-21665802 chr19:21665753-21665771 chr19:21665755-21665768 chr19:21665754-21665770 chr19:21665755-21665768
50	SMC3	chr19:21665584-21666180	K562	blood:	n/a	chr19:21665755-21665769

No.	Distal block	Cell Line	Cell type
1	chr19:21665377..21666059-chr20:61799030..61799530,2	MCF-7	breast:
2	chr19:21664396..21666008-chr21:9825779..9827966,2	MCF-7	breast:
3	chr19:21665376..21665988-chr8:46940890..46941394,3	MCF-7	breast:
4	chr19:21665377..21666008-chr8:46940755..46941391,3	MCF-7	breast:

Variant related genes	Relation type
LINC00664	TF binding region
ENSG00000264063	Chromatin interaction
ENSG00000264462	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3518033	chr19:21278465-21747567	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3518034	chr19:21278465-21747567	ZNF genes & repeats Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv3325271	chr19:21445407-21792817	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	esv2751783	chr19:21465822-21726337	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	esv3363678	chr19:21483148-21756908	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv578952	chr19:21535707-21868584	Genic enhancers Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv833782	chr19:21663537-21845722	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv510759	chr19:21664791-21723191	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21658000-21665800	Weak transcription	Gastric	stomach
2	chr19:21658000-21665800	Weak transcription	Lung	lung
3	chr19:21658200-21665800	Weak transcription	Right Ventricle	heart
4	chr19:21658200-21667400	Weak transcription	Right Atrium	heart
5	chr19:21658200-21687800	Weak transcription	Brain Substantia Nigra	brain
6	chr19:21658400-21665800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:21658600-21665800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr19:21658800-21665800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr19:21659000-21665800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr19:21659200-21665800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr19:21659200-21666000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr19:21659200-21668400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr19:21664200-21665800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr19:21664600-21665800	Weak transcription	Thymus	Thymus
15	chr19:21665200-21665800	Weak transcription	Colonic Mucosa	Colon
16	chr19:21665400-21665800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr19:21665400-21666400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr19:21665600-21665800	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr19:21665600-21665800	Enhancers	Adipose Nuclei	Adipose
20	chr19:21665600-21665800	Enhancers	Placenta	Placenta
21	chr19:21665600-21666000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr19:21665600-21666000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr19:21665600-21666000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr19:21665600-21666000	Enhancers	Stomach Mucosa	stomach
25	chr19:21665600-21666200	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr19:21665600-21666400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr19:21665600-21666400	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr19:21665600-21666800	Active TSS	Osteobl	bone
29	chr19:21665600-21667000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland

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