Variant report

Variant	rs534620093
Chromosome Location	chr19:19174265-19174266
allele	C/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	SP2	chr19:19174113-19174859	H1-hESC	embryonic stem cell:	n/a	chr19:19174675-19174698 chr19:19174532-19174555 chr19:19174397-19174420
2	HEY1	chr19:19174073-19174395	HepG2	liver:	n/a	chr19:19174323-19174338
3	GABPA	chr19:19174143-19175000	MCF-7	breast:	n/a	n/a
4	PML	chr19:19173241-19174472	K562	blood:	n/a	n/a
5	POLR2A	chr19:19174059-19175188	GM18951	blood:	n/a	n/a
6	POLR2A	chr19:19174076-19174919	HCT-116	colon:	n/a	n/a
7	POLR2A	chr19:19173887-19174997	GM12878	blood:	n/a	n/a
8	POLR2A	chr19:19173957-19174834	H1-hESC	embryonic stem cell:	n/a	n/a
9	CUX1	chr19:19173902-19174464	K562	blood:	n/a	n/a
10	CHD2	chr19:19174019-19175094	H1-hESC	embryonic stem cell:	n/a	chr19:19174953-19174963
11	GTF2F1	chr19:19174213-19174446	K562	blood:	n/a	n/a
12	SP1	chr19:19174150-19174954	K562	blood:	n/a	chr19:19174510-19174519 chr19:19174519-19174540 chr19:19174510-19174520 chr19:19174748-19174769 chr19:19174509-19174521 chr19:19174757-19174767 chr19:19174358-19174369 chr19:19174803-19174812 chr19:19174511-19174520 chr19:19174510-19174519 chr19:19174801-19174813 chr19:19174509-19174521 chr19:19174510-19174520
13	ELF1	chr19:19174116-19175182	GM12878	blood:	n/a	n/a
14	RCOR1	chr19:19172800-19175463	IMR90	lung:	n/a	n/a
15	CHD2	chr19:19174014-19175056	Hela-S3	cervix:	n/a	chr19:19174953-19174963
16	MXI1	chr19:19173889-19175237	GM12878	blood:	n/a	n/a
17	RFX5	chr19:19174118-19174825	GM12878	blood:	n/a	chr19:19174750-19174759
18	MYC	chr19:19173277-19175247	K562	blood:	n/a	n/a
19	CBX3	chr19:19173110-19174697	K562	blood:	n/a	n/a
20	MAX	chr19:19173910-19175008	ECC-1	luminal epithelium:	n/a	n/a
21	MAX	chr19:19174162-19174904	Hela-S3	cervix:	n/a	n/a
22	JUND	chr19:19174222-19174745	HepG2	liver:	n/a	chr19:19174664-19174673
23	SP1	chr19:19174001-19175185	HepG2	liver:	n/a	chr19:19174510-19174519 chr19:19174519-19174540 chr19:19174510-19174520 chr19:19174969-19174978 chr19:19174748-19174769 chr19:19174509-19174521 chr19:19174757-19174767 chr19:19174358-19174369 chr19:19174803-19174812 chr19:19175167-19175177 chr19:19174511-19174520 chr19:19174510-19174519 chr19:19174801-19174813 chr19:19174509-19174521 chr19:19174510-19174520
24	IRF1	chr19:19174169-19175206	K562	blood:	n/a	chr19:19174801-19174815 chr19:19174756-19174770 chr19:19174749-19174758 chr19:19174507-19174521
25	POLR2A	chr19:19174257-19175099	MCF10A-Er-Src	breast:	n/a	n/a
26	ARID3A	chr19:19173214-19174819	K562	blood:	n/a	n/a
27	POLR2A	chr19:19174167-19174825	Hela-S3	cervix:	n/a	n/a
28	NR2F2	chr19:19173943-19174440	K562	blood:	n/a	n/a
29	BCL3	chr19:19174009-19174838	A549	lung:	n/a	n/a
30	NFYA	chr19:19173698-19174878	GM12878	blood:	n/a	chr19:19174660-19174675 chr19:19174708-19174718 chr19:19174660-19174675 chr19:19174747-19174762 chr19:19174747-19174762 chr19:19174706-19174719 chr19:19174747-19174761
31	POLR2A	chr19:19173954-19175251	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr19:19173765-19175002	Hela-S3	cervix:	n/a	n/a
33	CHD2	chr19:19174130-19175115	GM12878	blood:	n/a	chr19:19174953-19174963
34	ZBTB7A	chr19:19174146-19174347	HepG2	liver:	n/a	n/a
35	FOXM1	chr19:19174060-19175129	GM12878	blood:	n/a	n/a
36	EGR1	chr19:19174132-19174637	ECC-1	luminal epithelium:	n/a	chr19:19174378-19174385 chr19:19174375-19174389
37	EBF1	chr19:19174066-19174799	GM12878	blood:	n/a	chr19:19174280-19174290 chr19:19174364-19174375 chr19:19174364-19174373
38	POLR2A	chr19:19174032-19176008	GM12878	blood:	n/a	n/a
39	BRCA1	chr19:19174217-19174767	Hela-S3	cervix:	n/a	n/a
40	ATF2	chr19:19174248-19174743	H1-hESC	embryonic stem cell:	n/a	n/a
41	HDAC2	chr19:19174121-19175216	HepG2	liver:	n/a	n/a
42	POLR2A	chr19:19173827-19174887	SK-N-SH	brain:	n/a	n/a
43	MYBL2	chr19:19173674-19174920	HepG2	liver:	n/a	n/a
44	PML	chr19:19174196-19174382	GM12878	blood:	n/a	n/a
45	JUN	chr19:19172291-19175360	K562	blood:	n/a	chr19:19173411-19173418 chr19:19173406-19173417 chr19:19173409-19173418 chr19:19173408-19173420 chr19:19174664-19174673
46	RCOR1	chr19:19172826-19175177	K562	blood:	n/a	n/a
47	FOS	chr19:19174199-19174920	GM12878	blood:	n/a	chr19:19174664-19174673
48	PML	chr19:19173718-19174581	K562	blood:	n/a	n/a
49	NFIC	chr19:19174037-19174553	HepG2	liver:	n/a	n/a
50	POLR2A	chr19:19173942-19175441	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:19172859..19177096-chr19:19213191..19220004,7	K562	blood:
2	chr19:19169646..19176603-chr19:19241603..19250623,23	K562	blood:
3	chr19:19141992..19145925-chr19:19172787..19177854,10	K562	blood:
4	chr19:19129913..19132824-chr19:19171752..19174736,2	K562	blood:
5	chr19:18943405..18943938-chr19:19173944..19174627,2	MCF-7	breast:
6	chr19:19162360..19163114-chr19:19173888..19174551,2	MCF-7	breast:
7	chr19:19170341..19177029-chr19:19229928..19235464,11	K562	blood:
8	chr19:19170465..19178046-chr19:19213939..19220242,15	K562	blood:
9	chr19:19171826..19174275-chr19:19223519..19227124,3	K562	blood:
10	chr19:19109933..19111022-chr19:19173938..19174740,6	MCF-7	breast:
11	chr19:19042101..19044216-chr19:19173856..19175729,2	K562	blood:
12	chr19:19172595..19175925-chr19:19247411..19251399,4	MCF-7	breast:
13	chr19:19110096..19111022-chr19:19173704..19174740,6	MCF-7	breast:
14	chr19:19169419..19177029-chr19:19229685..19233171,13	K562	blood:
15	chr19:19161417..19167211-chr19:19171135..19175299,5	MCF-7	breast:
16	chr19:19141992..19145825-chr19:19171077..19177701,15	K562	blood:
17	chr12:6716092..6716619-chr19:19173988..19174537,2	HCT-116	colon:
18	chr19:19169646..19176667-chr19:19241603..19249514,19	K562	blood:

Variant related genes	Relation type
SLC25A42	TF binding region
ENSG00000181035	Chromatin interaction
ENSG00000105676	Chromatin interaction
ENSG00000111642	Chromatin interaction
ENSG00000051128	Chromatin interaction
ENSG00000064607	Chromatin interaction
ENSG00000064545	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833778	chr19:19012669-19201487	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv1059305	chr19:19131310-19209999	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
3	nsv543927	chr19:19147376-19178024	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
4	nsv833779	chr19:19163492-19313091	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	esv17267	chr19:19174047-19177125	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	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	chr19:19172200-19174400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr19:19173000-19174600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:19173600-19174400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr19:19173800-19174400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr19:19173800-19174400	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr19:19173800-19174400	Flanking Active TSS	Primary T cells from cord blood	blood
7	chr19:19173800-19174400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
8	chr19:19173800-19174400	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr19:19173800-19174400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr19:19173800-19174400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr19:19173800-19174400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr19:19173800-19174400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:19173800-19174400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr19:19173800-19174400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr19:19173800-19174400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr19:19173800-19174400	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr19:19173800-19174400	Flanking Active TSS	Liver	Liver
18	chr19:19173800-19174400	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr19:19173800-19174400	Flanking Active TSS	Dnd41	blood
20	chr19:19173800-19174400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr19:19173800-19174400	Flanking Active TSS	NHEK	skin
22	chr19:19173800-19174400	Flanking Active TSS	Osteobl	bone
23	chr19:19173800-19175000	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr19:19173800-19175000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr19:19173800-19175000	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr19:19173800-19175000	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr19:19173800-19175000	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr19:19173800-19175200	Active TSS	H9 Cell Line	embryonic stem cell
29	chr19:19173800-19175200	Active TSS	Rectal Mucosa Donor 31	rectum
30	chr19:19173800-19175400	Active TSS	Rectal Smooth Muscle	rectum
31	chr19:19173800-19175600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr19:19174000-19174400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr19:19174000-19174400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr19:19174000-19174400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
35	chr19:19174000-19174400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr19:19174000-19174400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
37	chr19:19174000-19174400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr19:19174000-19174400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr19:19174000-19174400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr19:19174000-19174400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr19:19174000-19174400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr19:19174000-19174400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr19:19174000-19174400	Flanking Active TSS	Esophagus	oesophagus
44	chr19:19174000-19174400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr19:19174000-19174400	Flanking Active TSS	Fetal Muscle Trunk	muscle
46	chr19:19174000-19174400	Flanking Active TSS	Placenta	Placenta
47	chr19:19174000-19174400	Flanking Active TSS	Fetal Thymus	thymus
48	chr19:19174000-19174400	Flanking Active TSS	HMEC	breast
49	chr19:19174000-19174400	Flanking Active TSS	HSMM	muscle
50	chr19:19174000-19174400	Flanking Active TSS	HUVEC	blood vessel

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