Variant report

Variant	rs546169195
Chromosome Location	chr19:19516074-19516075
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	RUNX3	chr19:19515881-19516660	GM12878	blood:	n/a	n/a
2	USF2	chr19:19515874-19516462	GM12878	blood:	n/a	n/a
3	SIN3AK20	chr19:19515685-19518134	MCF-7	breast:	n/a	n/a
4	POLR2A	chr19:19515960-19516750	Hela-S3	cervix:	n/a	n/a
5	HA-E2F1	chr19:19515978-19517416	Hela-S3	cervix:	n/a	chr19:19516853-19516862 chr19:19516596-19516606 chr19:19516392-19516401 chr19:19516857-19516867 chr19:19517170-19517182 chr19:19516597-19516607
6	NFIC	chr19:19515851-19516259	GM12878	blood:	n/a	n/a
7	MAX	chr19:19515608-19517578	A549	lung:	n/a	chr19:19517185-19517192 chr19:19517317-19517326 chr19:19517183-19517194 chr19:19517184-19517193 chr19:19517184-19517194 chr19:19517168-19517178 chr19:19516393-19516403 chr19:19517041-19517050 chr19:19517043-19517052 chr19:19517042-19517049 chr19:19517186-19517195
8	ELF1	chr19:19515973-19516646	K562	blood:	n/a	n/a
9	CEBPB	chr19:19515708-19516117	H1-hESC	embryonic stem cell:	n/a	n/a
10	RAD21	chr19:19515986-19516486	ECC-1	luminal epithelium:	n/a	chr19:19516260-19516274 chr19:19516264-19516276 chr19:19516259-19516278
11	MAFK	chr19:19516027-19516470	Hela-S3	cervix:	n/a	n/a
12	MAX	chr19:19516019-19516610	K562	blood:	n/a	chr19:19516393-19516403
13	POLR2A	chr19:19515979-19516978	MCF-7	breast:	n/a	n/a
14	MAZ	chr19:19515842-19516724	GM12878	blood:	n/a	chr19:19516393-19516403
15	MYC	chr19:19516062-19516380	MCF-7	breast:	n/a	n/a
16	TEAD4	chr19:19515691-19516511	K562	blood:	n/a	n/a
17	MXI1	chr19:19515852-19516655	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr19:19515983-19516363	Hela-S3	cervix:	n/a	n/a
19	GABPA	chr19:19516031-19516575	MCF-7	breast:	n/a	chr19:19516434-19516443 chr19:19516392-19516401
20	POLR2A	chr19:19515844-19516451	U87	brain:	n/a	n/a
21	ELF1	chr19:19515927-19516552	HepG2	liver:	n/a	n/a
22	SIN3AK20	chr19:19516008-19516525	SK-N-SH	brain:	n/a	n/a
23	TCF12	chr19:19515867-19516532	ECC-1	luminal epithelium:	n/a	chr19:19516166-19516173
24	POLR2A	chr19:19515949-19516729	K562	blood:	n/a	n/a
25	SIN3A	chr19:19515904-19516591	GM12878	blood:	n/a	n/a
26	POLR2A	chr19:19515990-19516675	GM12878	blood:	n/a	n/a
27	EGR1	chr19:19515958-19516688	HCT-116	colon:	n/a	chr19:19516039-19516049 chr19:19516391-19516401 chr19:19516390-19516404 chr19:19516392-19516407 chr19:19516393-19516406 chr19:19516393-19516406 chr19:19516393-19516406 chr19:19516103-19516112
28	TCF12	chr19:19515880-19516645	A549	lung:	n/a	chr19:19516166-19516173
29	POLR2A	chr19:19515971-19516837	HL-60	blood:	n/a	n/a
30	POLR2A	chr19:19516014-19516808	Gliobla	brain:	n/a	n/a
31	RAD21	chr19:19516074-19516409	Hela-S3	cervix:	n/a	chr19:19516260-19516274 chr19:19516264-19516276 chr19:19516259-19516278
32	E2F1	chr19:19515994-19516735	Hela-S3	cervix:	n/a	chr19:19516596-19516606 chr19:19516392-19516401 chr19:19516597-19516607
33	POLR2A	chr19:19515810-19518478	H1-hESC	embryonic stem cell:	n/a	n/a
34	MXI1	chr19:19515634-19518501	SK-N-SH	brain:	n/a	chr19:19517040-19517049
35	E2F4	chr19:19516011-19516657	MCF10A-Er-Src	breast:	n/a	chr19:19516596-19516606 chr19:19516392-19516401 chr19:19516597-19516607
36	JUND	chr19:19515978-19516732	A549	lung:	n/a	chr19:19516195-19516206 chr19:19516195-19516207 chr19:19516197-19516205
37	CREB1	chr19:19515964-19516824	HepG2	liver:	n/a	n/a
38	CHD1	chr19:19515945-19516367	GM12878	blood:	n/a	n/a
39	POLR2A	chr19:19516000-19516727	HCT-116	colon:	n/a	n/a
40	RFX5	chr19:19515840-19516422	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr19:19516031-19516897	MCF-7	breast:	n/a	n/a
42	MXI1	chr19:19515533-19518803	IMR90	lung:	n/a	chr19:19517040-19517049
43	NRF1	chr19:19516054-19516771	GM12878	blood:	n/a	chr19:19516434-19516443 chr19:19516392-19516401 chr19:19516593-19516604 chr19:19516574-19516585
44	ELK1	chr19:19515715-19516553	GM12878	blood:	n/a	n/a
45	CREB1	chr19:19516025-19516791	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr19:19515872-19516445	U87	brain:	n/a	n/a
47	RFX5	chr19:19516013-19516424	K562	blood:	n/a	n/a
48	USF1	chr19:19516060-19516316	A549	lung:	n/a	n/a
49	MAX	chr19:19515703-19516686	ECC-1	luminal epithelium:	n/a	chr19:19516393-19516403
50	PAX5	chr19:19516001-19516451	GM12878	blood:	n/a	chr19:19516348-19516367

No.	Distal block	Cell Line	Cell type
1	chr19:19515119..19517741-chr19:19568755..19571176,2	MCF-7	breast:
2	chr19:19028947..19031173-chr19:19514626..19517474,2	K562	blood:
3	chr19:19515140..19518800-chr19:19574675..19578008,3	K562	blood:
4	chr19:19492268..19501550-chr19:19512499..19523684,29	K562	blood:
5	chr19:19514082..19516953-chr19:19567668..19570496,2	K562	blood:
6	chr19:19514894..19516950-chr19:19536458..19538380,2	MCF-7	breast:
7	chr19:19491673..19504307-chr19:19513999..19523684,33	K562	blood:
8	chr19:19428553..19432587-chr19:19515649..19520173,6	K562	blood:
9	chr19:19514824..19526614-chr19:19535593..19543548,15	K562	blood:
10	chr19:19494732..19500297-chr19:19512585..19520288,14	MCF-7	breast:
11	chr19:19454032..19456725-chr19:19515938..19518682,3	K562	blood:
12	chr19:19514840..19518062-chr19:19543803..19546421,4	K562	blood:
13	chr19:19494550..19497983-chr19:19513188..19518336,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267234	TF binding region
GATAD2A	TF binding region
ENSG00000105669	Chromatin interaction
ENSG00000105705	Chromatin interaction
ENSG00000207821	Chromatin interaction
ENSG00000129933	Chromatin interaction
ENSG00000105671	Chromatin interaction
ENSG00000167491	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	esv3360569	chr19:19515477-19518325	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
3	esv3411112	chr19:19515802-19518225	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	9 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	chr19:19515400-19516200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr19:19515400-19516200	Flanking Active TSS	K562	blood
3	chr19:19515400-19516200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr19:19515400-19516400	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr19:19515400-19517600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr19:19515600-19516200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
7	chr19:19515600-19516200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
8	chr19:19515600-19516200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
9	chr19:19515600-19516200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr19:19515600-19516200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr19:19515600-19516200	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr19:19515600-19516200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
13	chr19:19515600-19516200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr19:19515600-19516200	Flanking Active TSS	Stomach Smooth Muscle	stomach
15	chr19:19515600-19516200	Flanking Active TSS	Hela-S3	cervix
16	chr19:19515600-19516400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr19:19515600-19517600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr19:19515600-19517600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr19:19515600-19517800	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr19:19515600-19517800	Active TSS	Colon Smooth Muscle	Colon
21	chr19:19515600-19517800	Active TSS	Fetal Kidney	kidney
22	chr19:19515600-19518000	Active TSS	Brain Anterior Caudate	brain
23	chr19:19515600-19518200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr19:19515800-19516200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
25	chr19:19515800-19516200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr19:19515800-19516200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr19:19515800-19516200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr19:19515800-19516200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr19:19515800-19516200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr19:19515800-19516200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr19:19515800-19516200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
32	chr19:19515800-19516200	Flanking Active TSS	Primary B cells from peripheral blood	blood
33	chr19:19515800-19516200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
34	chr19:19515800-19516200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr19:19515800-19516200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr19:19515800-19516200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr19:19515800-19516200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr19:19515800-19516200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr19:19515800-19516200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr19:19515800-19516200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr19:19515800-19516200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr19:19515800-19516200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr19:19515800-19516200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr19:19515800-19516200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr19:19515800-19516200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr19:19515800-19516200	Flanking Active TSS	Liver	Liver
47	chr19:19515800-19516200	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr19:19515800-19516200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr19:19515800-19516200	Flanking Active TSS	Colonic Mucosa	Colon
50	chr19:19515800-19516200	Flanking Active TSS	Esophagus	oesophagus

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