Variant report

Variant	rs576989077
Chromosome Location	chr19:40790210-40790211
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:83)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:83 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:40789333-40791875	GM12878	blood:	n/a	n/a
2	POLR2A	chr19:40788968-40790490	HepG2	liver:	n/a	n/a
3	GATA3	chr19:40789997-40792033	A549	lung:	n/a	chr19:40791339-40791349
4	POLR2A	chr19:40789941-40791876	K562	blood:	n/a	n/a
5	POLR2A	chr19:40788195-40792187	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr19:40790163-40791870	GM15510	blood:	n/a	n/a
7	POLR2A	chr19:40789385-40791876	GM12878	blood:	n/a	n/a
8	STAT3	chr19:40790170-40790503	GM12878	blood:	n/a	chr19:40790261-40790269 chr19:40790453-40790464
9	ATF2	chr19:40790198-40790631	GM12878	blood:	n/a	n/a
10	RFX5	chr19:40790182-40790565	GM12878	blood:	n/a	n/a
11	PAX5	chr19:40790192-40790590	GM12878	blood:	n/a	chr19:40790205-40790214
12	FOXM1	chr19:40790188-40790675	GM12878	blood:	n/a	n/a
13	TBP	chr19:40790160-40790762	GM12878	blood:	n/a	n/a
14	MAZ	chr19:40790136-40791904	K562	blood:	n/a	chr19:40791049-40791059
15	POLR2A	chr19:40788136-40791242	GM12878	blood:	n/a	n/a
16	MAZ	chr19:40790077-40791960	GM12878	blood:	n/a	chr19:40791049-40791059
17	MXI1	chr19:40789687-40792059	IMR90	lung:	n/a	n/a
18	POLR2A	chr19:40789056-40790872	GM12892	blood:	n/a	n/a
19	SIN3A	chr19:40789987-40791817	H1-hESC	embryonic stem cell:	n/a	chr19:40791627-40791641
20	ZNF263	chr19:40789127-40790796	HEK293-T-REx	kidney:	n/a	chr19:40789676-40789685
21	MYC	chr19:40790056-40792101	A549	lung:	n/a	chr19:40791049-40791059
22	MXI1	chr19:40789629-40791833	GM12878	blood:	n/a	n/a
23	PML	chr19:40790016-40792073	GM12878	blood:	n/a	n/a
24	POLR2A	chr19:40790124-40790889	GM12891	blood:	n/a	n/a
25	POU2F2	chr19:40790204-40790864	GM12891	blood:	n/a	n/a
26	POLR2A	chr19:40790172-40790838	GM12892	blood:	n/a	n/a
27	CHD1	chr19:40789834-40791914	GM12878	blood:	n/a	n/a
28	TEAD4	chr19:40790176-40790872	K562	blood:	n/a	n/a
29	JUND	chr19:40790063-40791989	GM12878	blood:	n/a	n/a
30	POLR2A	chr19:40790068-40791930	GM19099	blood:	n/a	n/a
31	FOSL2	chr19:40789953-40790812	A549	lung:	n/a	n/a
32	EP300	chr19:40790190-40790591	GM12878	blood:	n/a	chr19:40790202-40790216
33	POLR2A	chr19:40790194-40791960	GM12878	blood:	n/a	n/a
34	POLR2A	chr19:40790194-40791878	IMR90	lung:	n/a	n/a
35	POLR2A	chr19:40790181-40791938	GM12878	blood:	n/a	n/a
36	POLR2A	chr19:40790142-40791870	K562	blood:	n/a	n/a
37	POLR2A	chr19:40790180-40791235	K562	blood:	n/a	n/a
38	POLR2A	chr19:40781762-40793937	PANC-1	pancreas:	n/a	n/a
39	ELF1	chr19:40790035-40790872	GM12878	blood:	n/a	n/a
40	POLR2A	chr19:40789144-40792048	GM12892	blood:	n/a	n/a
41	POLR2A	chr19:40787276-40792053	GM12878	blood:	n/a	n/a
42	WRNIP1	chr19:40789765-40790706	GM12878	blood:	n/a	n/a
43	POLR2A	chr19:40789979-40792081	H1-hESC	embryonic stem cell:	n/a	n/a
44	EP300	chr19:40790115-40790663	GM12878	blood:	n/a	chr19:40790202-40790216
45	POLR2A	chr19:40789235-40791994	GM12892	blood:	n/a	n/a
46	NFATC1	chr19:40790098-40790826	GM12878	blood:	n/a	n/a
47	STAT5A	chr19:40789777-40790893	GM12878	blood:	n/a	chr19:40790261-40790269 chr19:40790836-40790848 chr19:40790453-40790464
48	NFATC1	chr19:40790189-40790746	GM12878	blood:	n/a	n/a
49	MTA3	chr19:40789622-40791270	GM12878	blood:	n/a	n/a
50	NFIC	chr19:40790036-40790730	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:40790165-40790215	HEEpiC	esophagus:	n/a
2	chr19:40790165-40790215	HRE	kidney:	n/a
3	chr19:40790165-40790215	HCT-116	colon:	n/a
4	chr19:40790165-40790215	HRCEpiC	kidney:	n/a
5	chr19:40790165-40790215	NHDF-neo	bronchial:	n/a
6	chr19:40790165-40790215	GM12878	blood:	n/a
7	chr19:40790165-40790215	NB4	blood:	n/a
8	chr19:40790165-40790215	HIPEpiC	eye:	n/a
9	chr19:40790165-40790215	ProgFib	skin:	n/a
10	chr19:40790165-40790215	HUVEC	blood vessel:	n/a
11	chr19:40790165-40790215	HL-60	blood:	n/a
12	chr19:40790165-40790215	U87	brain:	n/a
13	chr19:40790165-40790215	HCPEpiC	choroid plexus:	n/a
14	chr19:40790165-40790215	T-47D	breast:	n/a
15	chr19:40790165-40790215	HepG2	liver:	n/a
16	chr19:40790165-40790215	GM06990	blood:	n/a
17	chr19:40790165-40790215	MCF10A-Er-Src	breast:	n/a
18	chr19:40790165-40790215	ovcar-3	ovarian:	n/a
19	chr19:40790165-40790215	AG10803	skin:	n/a
20	chr19:40790165-40790215	K562	blood:	n/a
21	chr19:40790165-40790215	Hepatocyte	liver:	n/a
22	chr19:40790165-40790215	NHBE	bronchial:	n/a
23	chr19:40790165-40790215	MCF-7	breast:	n/a
24	chr19:40790165-40790215	NH-A	brain:	n/a
25	chr19:40790165-40790215	AG09319	gingival:	n/a
26	chr19:40790165-40790215	GM19239	blood:	n/a
27	chr19:40790165-40790215	SK-N-MC	brain:	n/a
28	chr19:40790165-40790215	HMEC	breast:	n/a
29	chr19:40790165-40790215	PANC-1	pancreas:	n/a
30	chr19:40790165-40790215	A549	lung:	n/a
31	chr19:40790165-40790215	GM12892	blood:	n/a
32	chr19:40790165-40790215	AG04450	lung:	fetal
33	chr19:40790165-40790215	IMR90	lung:	fetal
34	chr19:40790165-40790215	Caco-2	colon:	n/a
35	chr19:40790165-40790215	SKMC	muscle:	n/a
36	chr19:40790165-40790215	AG04449	skin:	fetal
37	chr19:40790165-40790215	ECC-1	luminal epithelium:	n/a
38	chr19:40790165-40790215	PrEC	prostate:	n/a
39	chr19:40790165-40790215	AG09309	skin:	n/a
40	chr19:40790165-40790215	HNPCEpiC	eye:	n/a
41	chr19:40790165-40790215	GM12891	blood:	n/a
42	chr19:40790165-40790215	HRPEpiC	eye:	n/a
43	chr19:40790165-40790215	SK-N-SH	brain:	n/a
44	chr19:40790165-40790215	HPAEpiC	pulmonary alveolar:	n/a
45	chr19:40790165-40790215	PFSK-1	brain:	n/a
46	chr19:40790165-40790215	HCM	heart:	n/a
47	chr19:40790165-40790215	Jurkat	blood:	n/a
48	chr19:40790165-40790215	SAEC	small airway:	n/a
49	chr19:40790165-40790215	HAEpiC	amniotic membrane:	n/a
50	chr19:40790165-40790215	BE2_C	brain:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:40695407..40698481-chr19:40788292..40792778,5	K562	blood:
2	chr19:40789879..40793059-chr19:40870323..40872928,3	K562	blood:
3	chr19:40789948..40791553-chr19:41119261..41121070,2	K562	blood:
4	chr19:40788680..40791212-chr19:40852795..40854366,2	K562	blood:

No data

Variant related genes	Relation type
MIR641	TF binding region
AKT2	TF binding region
AKT2	CpG island
MIR641	CpG island
ENSG00000105223	Chromatin interaction
ENSG00000160392	Chromatin interaction
ENSG00000130758	Chromatin interaction
ENSG00000090006	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv2758499	chr19:40612420-40839520	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers 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 miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv2758761	chr19:40612420-40839520	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv911699	chr19:40691632-40816530	Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	esv1005660	chr19:40784738-40790835	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
7	esv3373348	chr19:40789637-40792485	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
8	esv3366050	chr19:40790162-40792260	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40783800-40790600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr19:40787800-40790400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr19:40788800-40790400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr19:40788800-40790600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr19:40789000-40790600	Flanking Active TSS	Liver	Liver
6	chr19:40789000-40790600	Flanking Active TSS	Duodenum Mucosa	Duodenum
7	chr19:40789200-40790400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr19:40789200-40790400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
9	chr19:40789200-40790400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
10	chr19:40789200-40790400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr19:40789200-40790400	Flanking Active TSS	Brain Cingulate Gyrus	brain
12	chr19:40789200-40790400	Flanking Active TSS	Brain Hippocampus Middle	brain
13	chr19:40789200-40790400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
14	chr19:40789200-40790400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr19:40789200-40790400	Flanking Active TSS	HSMM	muscle
16	chr19:40789200-40790400	Flanking Active TSS	NHDF-Ad	bronchial
17	chr19:40789200-40790600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr19:40789200-40790600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr19:40789200-40790600	Flanking Active TSS	Osteobl	bone
20	chr19:40789200-40790800	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr19:40789400-40790400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr19:40789400-40790400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr19:40789400-40790400	Flanking Active TSS	Brain Angular Gyrus	brain
24	chr19:40789400-40790400	Flanking Active TSS	Brain Anterior Caudate	brain
25	chr19:40789400-40790400	Flanking Active TSS	Fetal Brain Female	brain
26	chr19:40789400-40790400	Flanking Active TSS	Fetal Thymus	thymus
27	chr19:40789400-40790400	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr19:40789400-40790400	Flanking Active TSS	Hela-S3	cervix
29	chr19:40789400-40790600	Flanking Active TSS	Brain Germinal Matrix	brain
30	chr19:40789400-40790600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr19:40789400-40790600	Flanking Active TSS	Rectal Smooth Muscle	rectum
32	chr19:40789400-40790800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr19:40789400-40791800	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr19:40789600-40790400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr19:40789600-40790400	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr19:40789600-40790400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr19:40789600-40790400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr19:40789600-40790400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr19:40789600-40790400	Flanking Active TSS	Colonic Mucosa	Colon
40	chr19:40789600-40790400	Flanking Active TSS	Colon Smooth Muscle	Colon
41	chr19:40789600-40790400	Flanking Active TSS	Fetal Intestine Large	intestine
42	chr19:40789600-40790400	Flanking Active TSS	Fetal Lung	lung
43	chr19:40789600-40790400	Flanking Active TSS	Dnd41	blood
44	chr19:40789600-40790400	Flanking Active TSS	HMEC	breast
45	chr19:40789600-40790400	Flanking Active TSS	NH-A	brain
46	chr19:40789600-40790400	Flanking Active TSS	NHEK	skin
47	chr19:40789600-40790600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr19:40789600-40790600	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr19:40789600-40790600	Flanking Active TSS	Fetal Muscle Trunk	muscle
50	chr19:40789600-40790600	Flanking Active TSS	Pancreas	Pancrea

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