Variant report

Variant	rs368829775
Chromosome Location	chr19:45250994-45250995
allele	A/G
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	MAX	chr19:45250852-45251494	HepG2	liver:	n/a	chr19:45250878-45250887
2	ELF1	chr19:45250695-45251037	K562	blood:	n/a	n/a
3	MAZ	chr19:45250301-45252241	GM12878	blood:	n/a	chr19:45250878-45250887
4	MYBL2	chr19:45250758-45251091	HepG2	liver:	n/a	n/a
5	RAD21	chr19:45250660-45251057	SK-N-SH_RA	brain:	n/a	chr19:45250740-45250754 chr19:45250753-45250763
6	GATA2	chr19:45250994-45251636	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr19:45250806-45251143	HepG2	liver:	n/a	n/a
8	POLR2A	chr19:45250713-45251110	HUVEC	blood vessel:	n/a	n/a
9	EP300	chr19:45250595-45251072	SK-N-SH_RA	brain:	n/a	n/a
10	POLR2A	chr19:45250600-45251742	SK-N-MC	brain:	n/a	n/a
11	ESR1	chr19:45250665-45251109	T-47D	breast:	n/a	n/a
12	EP300	chr19:45250623-45251007	GM12878	blood:	n/a	n/a
13	MAX	chr19:45250518-45251593	SK-N-SH	brain:	n/a	chr19:45250878-45250887
14	ZBTB33	chr19:45250651-45251662	A549	lung:	n/a	n/a
15	JUND	chr19:45250290-45251079	HepG2	liver:	n/a	chr19:45250880-45250887 chr19:45250877-45250888 chr19:45250716-45250724 chr19:45250875-45250886 chr19:45250879-45250887 chr19:45250845-45250854 chr19:45250879-45250887
16	RCOR1	chr19:45250786-45251707	GM12878	blood:	n/a	n/a
17	MAZ	chr19:45250381-45252178	Hela-S3	cervix:	n/a	chr19:45250878-45250887
18	SMC3	chr19:45250473-45251686	Hela-S3	cervix:	n/a	chr19:45250753-45250763 chr19:45250639-45250649
19	RFX5	chr19:45250822-45251023	Hela-S3	cervix:	n/a	n/a
20	FOXA1	chr19:45250555-45251006	T-47D	breast:	n/a	n/a
21	POLR2A	chr19:45250618-45251632	HCT-116	colon:	n/a	n/a
22	POLR2A	chr19:45250230-45252136	PFSK-1	brain:	n/a	n/a
23	ZNF143	chr19:45250524-45251678	H1-hESC	embryonic stem cell:	n/a	n/a
24	SPI1	chr19:45250819-45251035	K562	blood:	n/a	n/a
25	EP300	chr19:45250387-45252152	SK-N-SH	brain:	n/a	chr19:45251827-45251843 chr19:45251823-45251839
26	GATA3	chr19:45250389-45252188	A549	lung:	n/a	n/a
27	EP300	chr19:45250476-45251154	T-47D	breast:	n/a	n/a
28	NRF1	chr19:45250731-45251600	GM12878	blood:	n/a	chr19:45250751-45250760
29	SP1	chr19:45249857-45252171	A549	lung:	n/a	chr19:45250751-45250760 chr19:45250749-45250760 chr19:45250674-45250684 chr19:45250750-45250760 chr19:45250750-45250764 chr19:45250749-45250761 chr19:45250793-45250802 chr19:45250674-45250683 chr19:45250850-45250864 chr19:45250750-45250759 chr19:45250673-45250685 chr19:45250674-45250683 chr19:45250674-45250688 chr19:45250750-45250759 chr19:45250817-45250828 chr19:45250674-45250684 chr19:45250675-45250684 chr19:45250801-45250812 chr19:45250673-45250685 chr19:45250749-45250761 chr19:45250750-45250760 chr19:45250115-45250125
30	ZBTB7A	chr19:45250459-45251199	ECC-1	luminal epithelium:	n/a	n/a
31	TAF1	chr19:45250764-45251678	PFSK-1	brain:	n/a	n/a
32	RCOR1	chr19:45249356-45252341	IMR90	lung:	n/a	n/a
33	POLR2A	chr19:45250479-45252237	K562	blood:	n/a	n/a
34	NFIC	chr19:45250494-45252125	SK-N-SH	brain:	n/a	n/a
35	POLR2A	chr19:45250208-45251027	A549	lung:	n/a	n/a
36	POLR2A	chr19:45250683-45251169	K562	blood:	n/a	n/a
37	EP300	chr19:45250659-45252182	GM12878	blood:	n/a	chr19:45251827-45251843 chr19:45251823-45251839
38	STAT3	chr19:45250732-45251037	Hela-S3	cervix:	n/a	chr19:45250760-45250781
39	POLR2A	chr19:45250845-45251127	K562	blood:	n/a	n/a
40	UBTF	chr19:45250849-45251079	K562	blood:	n/a	n/a
41	RXRA	chr19:45250177-45251042	HepG2	liver:	n/a	n/a
42	STAT3	chr19:45250501-45251024	MCF10A-Er-Src	breast:	n/a	chr19:45250760-45250781
43	POLR2A	chr19:45250463-45251142	A549	lung:	n/a	n/a
44	GATA3	chr19:45250546-45251128	T-47D	breast:	n/a	n/a
45	SIN3AK20	chr19:45250610-45251145	PANC-1	pancreas:	n/a	n/a
46	JUND	chr19:45250219-45252555	A549	lung:	n/a	chr19:45250880-45250887 chr19:45252543-45252552 chr19:45250877-45250888 chr19:45252545-45252554 chr19:45250716-45250724 chr19:45250875-45250886 chr19:45252546-45252555 chr19:45252542-45252551 chr19:45250879-45250887 chr19:45250845-45250854 chr19:45250879-45250887 chr19:45252544-45252553
47	FOS	chr19:45250662-45251009	MCF10A-Er-Src	breast:	n/a	chr19:45250880-45250887 chr19:45250716-45250724 chr19:45250875-45250886 chr19:45250877-45250888 chr19:45250879-45250887 chr19:45250845-45250854 chr19:45250879-45250887
48	POLR2A	chr19:45250248-45251693	U87	brain:	n/a	n/a
49	SPI1	chr19:45250744-45251106	GM12878	blood:	n/a	n/a
50	REST	chr19:45250818-45251455	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:45164861..45166953-chr19:45250378..45253353,2	MCF-7	breast:
2	chr19:45173518..45176542-chr19:45249418..45252711,3	MCF-7	breast:
3	chr19:45250646..45253385-chr19:45348787..45352398,5	MCF-7	breast:
4	chr19:45180699..45183749-chr19:45249057..45252629,3	MCF-7	breast:
5	chr19:45249129..45253567-chr19:45309146..45313529,6	MCF-7	breast:
6	chr19:45250268..45252334-chr19:45593239..45597540,3	MCF-7	breast:
7	chr19:45250044..45254049-chr19:45347224..45351011,6	MCF-7	breast:
8	chr19:45250785..45254453-chr19:45309921..45313662,4	MCF-7	breast:
9	chr19:45222394..45233722-chr19:45248498..45258065,33	MCF-7	breast:

Variant related genes	Relation type
BCL3	TF binding region
ENSG00000104866	Chromatin interaction
ENSG00000187244	Chromatin interaction
ENSG00000186567	Chromatin interaction
ENSG00000130202	Chromatin interaction
ENSG00000252200	Chromatin interaction
ENSG00000267348	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv912116	chr19:45146103-45298069	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS 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	29 gene(s)	inside rSNPs	diseases
2	nsv833841	chr19:45208486-45308043	Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	esv3335183	chr19:45225161-45253316	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv3324918	chr19:45250737-45253285	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45243800-45252000	Weak transcription	Gastric	stomach
2	chr19:45247600-45251000	Enhancers	NHDF-Ad	bronchial
3	chr19:45247800-45251000	Enhancers	Stomach Mucosa	stomach
4	chr19:45247800-45251000	Enhancers	Spleen	Spleen
5	chr19:45248200-45251000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr19:45248200-45251600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
7	chr19:45249600-45251400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr19:45249800-45251600	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr19:45249800-45253200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr19:45250000-45251000	Enhancers	Fetal Heart	heart
11	chr19:45250000-45251600	Flanking Active TSS	Fetal Intestine Small	intestine
12	chr19:45250200-45251200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr19:45250200-45251600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr19:45250200-45251600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr19:45250200-45251600	Flanking Active TSS	GM12878-XiMat	blood
16	chr19:45250200-45252400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
17	chr19:45250200-45252800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr19:45250200-45252800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
19	chr19:45250200-45252800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr19:45250400-45251000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr19:45250400-45251000	Bivalent Enhancer	Fetal Brain Male	brain
22	chr19:45250400-45251000	Weak transcription	Lung	lung
23	chr19:45250400-45251200	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr19:45250400-45251200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr19:45250400-45251200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr19:45250400-45251200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
27	chr19:45250400-45251600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
28	chr19:45250400-45251600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
29	chr19:45250400-45251600	Flanking Active TSS	Primary B cells from peripheral blood	blood
30	chr19:45250400-45251600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
31	chr19:45250400-45251600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr19:45250400-45251600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr19:45250400-45251600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr19:45250400-45251600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr19:45250400-45251600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr19:45250400-45251600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr19:45250400-45251600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr19:45250400-45251600	Flanking Active TSS	Fetal Muscle Trunk	muscle
39	chr19:45250400-45251600	Flanking Active TSS	Fetal Muscle Leg	muscle
40	chr19:45250400-45251600	Bivalent Enhancer	Dnd41	blood
41	chr19:45250400-45252600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
42	chr19:45250400-45252600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr19:45250400-45252600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
44	chr19:45250400-45252800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr19:45250400-45252800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr19:45250400-45252800	Active TSS	Psoas Muscle	Psoas
47	chr19:45250400-45253200	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr19:45250400-45254000	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr19:45250600-45251000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr19:45250600-45251000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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