Variant report

Variant	rs73553822
Chromosome Location	chr19:40030901-40030902
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:494)
CpG islands
(count:61)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:494 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr19:40030618-40031131	GM12878	blood:	n/a	n/a
2	CTCF	chr19:40030838-40031108	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr19:40030577-40030952	HepG2	liver:	n/a	n/a
4	POLR2A	chr19:40030511-40031115	PFSK-1	brain:	n/a	n/a
5	MAZ	chr19:40030589-40031182	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr19:40030562-40031107	SK-N-MC	brain:	n/a	n/a
7	CTCF	chr19:40030900-40031050	NHDF-neo	bronchial:	n/a	n/a
8	POLR2A	chr19:40030547-40030967	HCT-116	colon:	n/a	n/a
9	TEAD4	chr19:40030591-40031085	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr19:40030880-40031030	HL-60	blood:	n/a	n/a
11	MAZ	chr19:40030577-40031349	GM12878	blood:	n/a	n/a
12	SIN3AK20	chr19:40030463-40030910	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr19:40030860-40031010	GM12872	blood:	n/a	n/a
14	CTCF	chr19:40030709-40031161	GM12878	blood:	n/a	n/a
15	EBF1	chr19:40030765-40031033	GM12878	blood:	n/a	n/a
16	CTCF	chr19:40030840-40030990	GM12872	blood:	n/a	n/a
17	RELA	chr19:40030594-40031065	GM18951	blood:	n/a	n/a
18	CHD2	chr19:40030561-40031083	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr19:40030535-40030970	GM12892	blood:	n/a	n/a
20	CTCF	chr19:40030811-40031067	MCF-7	breast:	n/a	n/a
21	CTCF	chr19:40030860-40031010	AG10803	skin:	n/a	n/a
22	POLR2A	chr19:40030571-40030982	GM10847	blood:	n/a	n/a
23	CTCF	chr19:40030773-40031071	GM12892	blood:	n/a	n/a
24	CTCF	chr19:40030820-40030970	GM12801	blood:	n/a	n/a
25	TEAD4	chr19:40030500-40031048	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr19:40030496-40030967	GM12878	blood:	n/a	n/a
27	ZC3H11A	chr19:40030662-40031033	K562	blood:	n/a	n/a
28	MAZ	chr19:40030537-40031121	K562	blood:	n/a	n/a
29	HDAC2	chr19:40030614-40031042	MCF-7	breast:	n/a	n/a
30	POLR2A	chr19:40030404-40031033	HUVEC	blood vessel:	n/a	n/a
31	EGR1	chr19:40030598-40031002	K562	blood:	n/a	chr19:40030803-40030816 chr19:40030805-40030815 chr19:40030890-40030899 chr19:40030803-40030817 chr19:40030800-40030809 chr19:40030799-40030821 chr19:40030804-40030815 chr19:40030801-40030810 chr19:40030805-40030814 chr19:40030803-40030816 chr19:40030803-40030816
32	NRF1	chr19:40030601-40031093	GM12878	blood:	n/a	chr19:40030798-40030809 chr19:40030796-40030810 chr19:40030886-40030900 chr19:40030907-40030916 chr19:40030889-40030900 chr19:40030889-40030903 chr19:40030889-40030898 chr19:40030799-40030810
33	RFX5	chr19:40030676-40031200	GM12878	blood:	n/a	n/a
34	CTCF	chr19:40030840-40030990	HA-sp	spinal cord:	n/a	n/a
35	CTCF	chr19:40030900-40031050	NB4	blood:	n/a	n/a
36	RAD21	chr19:40030714-40031097	HepG2	liver:	n/a	n/a
37	TAF1	chr19:40030463-40031021	K562	blood:	n/a	n/a
38	CTCF	chr19:40030880-40031030	HCPEpiC	choroid plexus:	n/a	n/a
39	SIN3AK20	chr19:40030594-40031000	HepG2	liver:	n/a	n/a
40	CTCF	chr19:40030820-40030970	GM12868	blood:	n/a	n/a
41	SIN3AK20	chr19:40029825-40031293	MCF-7	breast:	n/a	n/a
42	HMGN3	chr19:40030184-40031045	K562	blood:	n/a	n/a
43	YY1	chr19:40030425-40031059	A549	lung:	n/a	chr19:40030571-40030591
44	CTCF	chr19:40030761-40031076	Kidney_OC	kidney:	n/a	n/a
45	CTCF	chr19:40030702-40031201	A549	lung:	n/a	n/a
46	POLR2A	chr19:40030500-40031038	PFSK-1	brain:	n/a	n/a
47	ELF1	chr19:40030582-40030971	MCF-7	breast:	n/a	n/a
48	RAD21	chr19:40030656-40031123	A549	lung:	n/a	n/a
49	NR2F2	chr19:40030437-40031028	MCF-7	breast:	n/a	n/a
50	CUX1	chr19:40030774-40031235	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:40030871-40030921	AG10803	skin:	n/a
2	chr19:40030871-40030921	HCT-116	colon:	n/a
3	chr19:40030871-40030921	HRPEpiC	eye:	n/a
4	chr19:40030871-40030921	HCM	heart:	n/a
5	chr19:40030871-40030921	NT2-D1	testis:	n/a
6	chr19:40030871-40030921	SK-N-SH_RA	brain:	n/a
7	chr19:40030871-40030921	HEEpiC	esophagus:	n/a
8	chr19:40030871-40030921	Caco-2	colon:	n/a
9	chr19:40030871-40030921	Hepatocyte	liver:	n/a
10	chr19:40030871-40030921	SK-N-MC	brain:	n/a
11	chr19:40030871-40030921	SK-N-SH	brain:	n/a
12	chr19:40030871-40030921	HUVEC	blood vessel:	n/a
13	chr19:40030871-40030921	GM06990	blood:	n/a
14	chr19:40030871-40030921	HIPEpiC	eye:	n/a
15	chr19:40030871-40030921	BJ	skin:	n/a
16	chr19:40030871-40030921	H1-hESC	embryonic stem cell:	embryo
17	chr19:40030871-40030921	T-47D	breast:	n/a
18	chr19:40030871-40030921	A549	lung:	n/a
19	chr19:40030871-40030921	BE2_C	brain:	n/a
20	chr19:40030871-40030921	ECC-1	luminal epithelium:	n/a
21	chr19:40030871-40030921	HPAEpiC	pulmonary alveolar:	n/a
22	chr19:40030871-40030921	MCF10A-Er-Src	breast:	n/a
23	chr19:40030871-40030921	NHBE	bronchial:	n/a
24	chr19:40030871-40030921	HAEpiC	amniotic membrane:	n/a
25	chr19:40030871-40030921	IMR90	lung:	fetal
26	chr19:40030871-40030921	U87	brain:	n/a
27	chr19:40030871-40030921	GM12892	blood:	n/a
28	chr19:40030871-40030921	PFSK-1	brain:	n/a
29	chr19:40030871-40030921	MCF-7	breast:	n/a
30	chr19:40030871-40030921	ProgFib	skin:	n/a
31	chr19:40030871-40030921	RPTEC	kidney:	n/a
32	chr19:40030871-40030921	PANC-1	pancreas:	n/a
33	chr19:40030871-40030921	SKMC	muscle:	n/a
34	chr19:40030871-40030921	LNCaP	prostate:	n/a
35	chr19:40030871-40030921	PrEC	prostate:	n/a
36	chr19:40030871-40030921	GM12891	blood:	n/a
37	chr19:40030871-40030921	HRCEpiC	kidney:	n/a
38	chr19:40030871-40030921	K562	blood:	n/a
39	chr19:40030871-40030921	NHDF-neo	bronchial:	n/a
40	chr19:40030871-40030921	Hela-S3	cervix:	n/a
41	chr19:40030871-40030921	HCPEpiC	choroid plexus:	n/a
42	chr19:40030871-40030921	GM12878	blood:	n/a
43	chr19:40030871-40030921	AG09309	skin:	n/a
44	chr19:40030871-40030921	HCF	heart:	n/a
45	chr19:40030871-40030921	AG09319	gingival:	n/a
46	chr19:40030871-40030921	AG04449	skin:	fetal
47	chr19:40030871-40030921	HepG2	liver:	n/a
48	chr19:40030871-40030921	Jurkat	blood:	n/a
49	chr19:40030871-40030921	SAEC	small airway:	n/a
50	chr19:40030871-40030921	HL-60	blood:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:40029767..40032366-chr19:40330875..40333585,2	K562	blood:
2	chr19:39933642..39937454-chr19:40029470..40032868,6	MCF-7	breast:
3	chr19:39934417..39936200-chr19:40029570..40032204,2	MCF-7	breast:
4	chr19:39901022..39904778-chr19:40029097..40032980,4	MCF-7	breast:
5	chr19:39880332..39881919-chr19:40028970..40031203,2	K562	blood:
6	chr19:39959218..39961854-chr19:40028748..40031663,2	K562	blood:
7	chr19:40023614..40026391-chr19:40028689..40031990,5	MCF-7	breast:
8	chr19:40030384..40030989-chr2:61697310..61698275,2	Hela-S3	cervix:
9	chr19:40019907..40024445-chr19:40029285..40031709,4	MCF-7	breast:
10	chr10:32217398..32217991-chr19:40030471..40031244,2	HCT-116	colon:
11	chr19:39931001..39933171-chr19:40029480..40031756,2	MCF-7	breast:
12	chr19:39925003..39927867-chr19:40028857..40032200,4	K562	blood:
13	chr19:39923771..39928393-chr19:40029138..40032183,4	MCF-7	breast:

No data

Variant related genes	Relation type
EID2	TF binding region
EID2	CpG island
ENSG00000269584	Chromatin interaction
ENSG00000006712	Chromatin interaction
ENSG00000269792	Chromatin interaction
ENSG00000105193	Chromatin interaction
ENSG00000090924	Chromatin interaction
ENSG00000115464	Chromatin interaction
ENSG00000105202	Chromatin interaction
ENSG00000176401	Chromatin interaction
ENSG00000165322	Chromatin interaction
ENSG00000196235	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs58949744	1.00[AMR][1000 genomes]
rs60839689	1.00[AMR][1000 genomes]
rs60840261	1.00[AMR][1000 genomes]
rs61124676	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61730567	1.00[AMR][1000 genomes]
rs7250913	1.00[AMR][1000 genomes]
rs73546026	1.00[AMR][1000 genomes]
rs73546080	1.00[AMR][1000 genomes]
rs73547904	1.00[AMR][1000 genomes]
rs73547972	1.00[AMR][1000 genomes]
rs73553808	1.00[AMR][1000 genomes]
rs73553810	1.00[AMR][1000 genomes]
rs73553812	1.00[AMR][1000 genomes]
rs73553830	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73553832	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73553833	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73553835	1.00[AMR][1000 genomes]
rs73553853	1.00[AMR][1000 genomes]
rs8101134	1.00[AMR][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	nsv911690	chr19:39903088-40046863	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv911692	chr19:39979966-40046863	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1060251	chr19:39982988-40099773	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv911693	chr19:39986241-40033574	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv579509	chr19:40004640-40133438	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv911694	chr19:40015907-40031369	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40029200-40031000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:40029200-40031000	Active TSS	Fetal Muscle Leg	muscle
3	chr19:40029200-40031000	Active TSS	Psoas Muscle	Psoas
4	chr19:40029200-40031200	Active TSS	Brain Angular Gyrus	brain
5	chr19:40029200-40031200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr19:40029200-40031200	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr19:40029200-40031200	Active TSS	Thymus	Thymus
8	chr19:40029200-40031400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr19:40029400-40031000	Active TSS	H1 Cell Line	embryonic stem cell
10	chr19:40029400-40031000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:40029400-40031000	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr19:40029400-40031200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr19:40029600-40031000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr19:40029600-40031000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr19:40029600-40031000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr19:40029600-40031000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr19:40029600-40031000	Active TSS	Fetal Kidney	kidney
18	chr19:40029600-40031000	Active TSS	Placenta	Placenta
19	chr19:40029600-40031000	Active TSS	Fetal Thymus	thymus
20	chr19:40029600-40031000	Active TSS	Ovary	ovary
21	chr19:40029600-40031200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr19:40029600-40031200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr19:40029600-40031200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr19:40029600-40031200	Active TSS	NHDF-Ad	bronchial
25	chr19:40029800-40031000	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr19:40029800-40031000	Active TSS	H9 Cell Line	embryonic stem cell
27	chr19:40029800-40031000	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr19:40029800-40031000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr19:40029800-40031000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr19:40029800-40031000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr19:40029800-40031000	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr19:40029800-40031000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr19:40029800-40031000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr19:40029800-40031000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr19:40029800-40031000	Active TSS	Muscle Satellite Cultured Cells	--
36	chr19:40029800-40031000	Active TSS	Fetal Heart	heart
37	chr19:40029800-40031000	Active TSS	Fetal Muscle Trunk	muscle
38	chr19:40029800-40031000	Active TSS	Fetal Stomach	stomach
39	chr19:40029800-40031000	Active TSS	Left Ventricle	heart
40	chr19:40029800-40031000	Active TSS	HMEC	breast
41	chr19:40029800-40031000	Active TSS	HSMMtube	muscle
42	chr19:40029800-40031000	Active TSS	NHLF	lung
43	chr19:40029800-40031200	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr19:40029800-40031200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr19:40029800-40031200	Active TSS	Aorta	Aorta
46	chr19:40029800-40031200	Active TSS	GM12878-XiMat	blood
47	chr19:40029800-40031200	Active TSS	HSMM	muscle
48	chr19:40030000-40031000	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr19:40030000-40031000	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr19:40030000-40031000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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