Variant report

Variant	rs7249476
Chromosome Location	chr19:40790152-40790153
allele	A/C
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	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	chr19:40789385-40791876	GM12878	blood:	n/a	n/a
7	MAZ	chr19:40790136-40791904	K562	blood:	n/a	chr19:40791049-40791059
8	POLR2A	chr19:40788136-40791242	GM12878	blood:	n/a	n/a
9	MAZ	chr19:40790077-40791960	GM12878	blood:	n/a	chr19:40791049-40791059
10	MXI1	chr19:40789687-40792059	IMR90	lung:	n/a	n/a
11	POLR2A	chr19:40789056-40790872	GM12892	blood:	n/a	n/a
12	SIN3A	chr19:40789987-40791817	H1-hESC	embryonic stem cell:	n/a	chr19:40791627-40791641
13	ZNF263	chr19:40789127-40790796	HEK293-T-REx	kidney:	n/a	chr19:40789676-40789685
14	MYC	chr19:40790056-40792101	A549	lung:	n/a	chr19:40791049-40791059
15	MXI1	chr19:40789629-40791833	GM12878	blood:	n/a	n/a
16	PML	chr19:40790016-40792073	GM12878	blood:	n/a	n/a
17	POLR2A	chr19:40790124-40790889	GM12891	blood:	n/a	n/a
18	CHD1	chr19:40789834-40791914	GM12878	blood:	n/a	n/a
19	JUND	chr19:40790063-40791989	GM12878	blood:	n/a	n/a
20	POLR2A	chr19:40790068-40791930	GM19099	blood:	n/a	n/a
21	FOSL2	chr19:40789953-40790812	A549	lung:	n/a	n/a
22	POLR2A	chr19:40790142-40791870	K562	blood:	n/a	n/a
23	POLR2A	chr19:40781762-40793937	PANC-1	pancreas:	n/a	n/a
24	ELF1	chr19:40790035-40790872	GM12878	blood:	n/a	n/a
25	POLR2A	chr19:40789144-40792048	GM12892	blood:	n/a	n/a
26	POLR2A	chr19:40787276-40792053	GM12878	blood:	n/a	n/a
27	WRNIP1	chr19:40789765-40790706	GM12878	blood:	n/a	n/a
28	POLR2A	chr19:40789979-40792081	H1-hESC	embryonic stem cell:	n/a	n/a
29	EP300	chr19:40790115-40790663	GM12878	blood:	n/a	chr19:40790202-40790216
30	POLR2A	chr19:40789235-40791994	GM12892	blood:	n/a	n/a
31	NFATC1	chr19:40790098-40790826	GM12878	blood:	n/a	n/a
32	STAT5A	chr19:40789777-40790893	GM12878	blood:	n/a	chr19:40790261-40790269 chr19:40790836-40790848 chr19:40790453-40790464
33	MTA3	chr19:40789622-40791270	GM12878	blood:	n/a	n/a
34	NFIC	chr19:40790036-40790730	GM12878	blood:	n/a	n/a
35	CHD1	chr19:40789452-40792116	IMR90	lung:	n/a	n/a
36	MTA3	chr19:40790024-40790645	GM12878	blood:	n/a	n/a
37	RFX5	chr19:40790037-40790570	HepG2	liver:	n/a	n/a
38	CREB1	chr19:40790027-40791952	GM12878	blood:	n/a	n/a
39	POLR2A	chr19:40790135-40790903	GM12891	blood:	n/a	n/a
40	POLR2A	chr19:40789051-40791950	K562	blood:	n/a	n/a
41	SIN3AK20	chr19:40787407-40793117	PANC-1	pancreas:	n/a	n/a
42	TAF1	chr19:40790152-40790753	GM12878	blood:	n/a	n/a
43	TCF12	chr19:40789843-40792193	A549	lung:	n/a	n/a
44	SREBP1	chr19:40789027-40792196	GM12878	blood:	n/a	n/a
45	POLR2A	chr19:40789272-40791877	GM19193	blood:	n/a	n/a
46	POLR2A	chr19:40789242-40791248	GM12891	blood:	n/a	n/a
47	POLR2A	chr19:40790020-40791966	GM12891	blood:	n/a	n/a
48	POLR2A	chr19:40789987-40791933	GM18505	blood:	n/a	n/a
49	CHD2	chr19:40790135-40790690	GM12878	blood:	n/a	n/a
50	POLR2A	chr19:40790040-40791809	K562	blood:	n/a	n/a

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:

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

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

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40770200-40790200	Weak transcription	Aorta	Aorta
2	chr19:40783800-40790600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr19:40786400-40790200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr19:40787800-40790400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr19:40788400-40790200	Enhancers	Esophagus	oesophagus
6	chr19:40788600-40790200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr19:40788800-40790200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr19:40788800-40790400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr19:40788800-40790600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr19:40789000-40790200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr19:40789000-40790600	Flanking Active TSS	Liver	Liver
12	chr19:40789000-40790600	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr19:40789200-40790200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr19:40789200-40790200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr19:40789200-40790200	Flanking Active TSS	GM12878-XiMat	blood
16	chr19:40789200-40790400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr19:40789200-40790400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr19:40789200-40790400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr19:40789200-40790400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr19:40789200-40790400	Flanking Active TSS	Brain Cingulate Gyrus	brain
21	chr19:40789200-40790400	Flanking Active TSS	Brain Hippocampus Middle	brain
22	chr19:40789200-40790400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
23	chr19:40789200-40790400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr19:40789200-40790400	Flanking Active TSS	HSMM	muscle
25	chr19:40789200-40790400	Flanking Active TSS	NHDF-Ad	bronchial
26	chr19:40789200-40790600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr19:40789200-40790600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr19:40789200-40790600	Flanking Active TSS	Osteobl	bone
29	chr19:40789200-40790800	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr19:40789400-40790200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr19:40789400-40790200	Enhancers	Placenta	Placenta
32	chr19:40789400-40790200	Flanking Active TSS	Psoas Muscle	Psoas
33	chr19:40789400-40790200	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr19:40789400-40790400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr19:40789400-40790400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr19:40789400-40790400	Flanking Active TSS	Brain Angular Gyrus	brain
37	chr19:40789400-40790400	Flanking Active TSS	Brain Anterior Caudate	brain
38	chr19:40789400-40790400	Flanking Active TSS	Fetal Brain Female	brain
39	chr19:40789400-40790400	Flanking Active TSS	Fetal Thymus	thymus
40	chr19:40789400-40790400	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr19:40789400-40790400	Flanking Active TSS	Hela-S3	cervix
42	chr19:40789400-40790600	Flanking Active TSS	Brain Germinal Matrix	brain
43	chr19:40789400-40790600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr19:40789400-40790600	Flanking Active TSS	Rectal Smooth Muscle	rectum
45	chr19:40789400-40790800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr19:40789400-40791800	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr19:40789600-40790200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr19:40789600-40790200	Flanking Active TSS	Left Ventricle	heart
49	chr19:40789600-40790200	Enhancers	Placenta Amnion	Placenta Amnion
50	chr19:40789600-40790200	Flanking Active TSS	Right Ventricle	heart

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