Variant report

Variant	rs557174190
Chromosome Location	chr19:42901853-42901854
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	POLR2A	chr19:42900382-42901960	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr19:42900750-42901929	H1-neurons	neurons:	n/a	n/a
3	REST	chr19:42900270-42902183	A549	lung:	n/a	n/a
4	MAX	chr19:42900462-42902162	A549	lung:	n/a	chr19:42900536-42900545 chr19:42901461-42901471
5	MAX	chr19:42900490-42901944	ECC-1	luminal epithelium:	n/a	chr19:42900536-42900545 chr19:42901461-42901471
6	RUNX3	chr19:42900899-42901876	GM12878	blood:	n/a	n/a
7	CTCF	chr19:42901840-42901990	HBMEC	blood vessel:	n/a	n/a
8	MAX	chr19:42900730-42901970	ECC-1	luminal epithelium:	n/a	chr19:42901461-42901471
9	REST	chr19:42900445-42902029	A549	lung:	n/a	n/a
10	SP1	chr19:42900291-42902022	A549	lung:	n/a	chr19:42901460-42901474 chr19:42901203-42901215 chr19:42901147-42901168 chr19:42901203-42901215 chr19:42901463-42901475 chr19:42901463-42901475
11	ELF1	chr19:42900858-42901915	MCF-7	breast:	n/a	chr19:42901326-42901338 chr19:42901458-42901470
12	MAX	chr19:42900513-42902175	K562	blood:	n/a	chr19:42900536-42900545 chr19:42901461-42901471
13	POLR2A	chr19:42900352-42901899	PFSK-1	brain:	n/a	n/a
14	ATF3	chr19:42900440-42901935	A549	lung:	n/a	chr19:42901125-42901138 chr19:42901125-42901138 chr19:42901125-42901135 chr19:42901128-42901135 chr19:42901127-42901135 chr19:42901124-42901139 chr19:42900536-42900545 chr19:42901125-42901135 chr19:42901127-42901138
15	MAX	chr19:42899884-42902339	A549	lung:	n/a	chr19:42900536-42900545 chr19:42901461-42901471 chr19:42899996-42900005
16	MYC	chr19:42900546-42901895	MCF10A-Er-Src	breast:	n/a	chr19:42901461-42901471
17	MAX	chr19:42900609-42901951	SK-N-SH	brain:	n/a	chr19:42901461-42901471
18	JUND	chr19:42900451-42901998	A549	lung:	n/a	chr19:42901127-42901136
19	MAX	chr19:42900732-42901908	A549	lung:	n/a	chr19:42901461-42901471
20	REST	chr19:42900415-42902064	H1-neurons	neurons:	n/a	n/a
21	ZBTB33	chr19:42900807-42901899	A549	lung:	n/a	n/a
22	RFX5	chr19:42899800-42901883	SK-N-SH	brain:	n/a	n/a
23	TCF12	chr19:42900196-42902225	A549	lung:	n/a	chr19:42900975-42900984
24	MXI1	chr19:42900268-42902118	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr19:42900605-42901862	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr19:42900348-42901973	U87	brain:	n/a	n/a
27	SP1	chr19:42900307-42902155	A549	lung:	n/a	chr19:42901460-42901474 chr19:42901203-42901215 chr19:42901147-42901168 chr19:42901203-42901215 chr19:42901463-42901475 chr19:42901463-42901475
28	MAX	chr19:42901588-42901872	K562	blood:	n/a	n/a
29	MAX	chr19:42900822-42901971	SK-N-SH	brain:	n/a	chr19:42901461-42901471
30	MAX	chr19:42900651-42901883	Hela-S3	cervix:	n/a	chr19:42901461-42901471
31	SP1	chr19:42900357-42902300	HCT-116	colon:	n/a	chr19:42901460-42901474 chr19:42901203-42901215 chr19:42901147-42901168 chr19:42901203-42901215 chr19:42901463-42901475 chr19:42901463-42901475
32	POLR2A	chr19:42900342-42902015	U87	brain:	n/a	n/a
33	POLR2A	chr19:42900389-42902110	Hela-S3	cervix:	n/a	n/a
34	MAX	chr19:42900410-42901979	MCF-7	breast:	n/a	chr19:42900536-42900545 chr19:42901461-42901471
35	POLR2A	chr19:42900495-42902041	PFSK-1	brain:	n/a	n/a
36	MTA3	chr19:42900477-42902100	GM12878	blood:	n/a	n/a
37	MAX	chr19:42900527-42901888	Hela-S3	cervix:	n/a	chr19:42900536-42900545 chr19:42901461-42901471
38	SP1	chr19:42900362-42901917	HCT-116	colon:	n/a	chr19:42901460-42901474 chr19:42901203-42901215 chr19:42901147-42901168 chr19:42901203-42901215 chr19:42901463-42901475 chr19:42901463-42901475
39	JUND	chr19:42900348-42902013	SK-N-SH	brain:	n/a	chr19:42901127-42901136
40	MTA3	chr19:42900879-42901983	GM12878	blood:	n/a	n/a
41	POLR2A	chr19:42900588-42901912	GM12878	blood:	n/a	n/a
42	E2F6	chr19:42900800-42901997	A549	lung:	n/a	chr19:42901128-42901137 chr19:42901126-42901135
43	E2F6	chr19:42900510-42902261	A549	lung:	n/a	chr19:42901128-42901137 chr19:42901126-42901135
44	ELF1	chr19:42900763-42902131	GM12878	blood:	n/a	chr19:42901326-42901338 chr19:42901458-42901470
45	MXI1	chr19:42900537-42902004	IMR90	lung:	n/a	n/a
46	POLR2A	chr19:42900717-42901907	HUVEC	blood vessel:	n/a	n/a
47	MYC	chr19:42900998-42901895	MCF10A-Er-Src	breast:	n/a	chr19:42901461-42901471
48	POLR2A	chr19:42900566-42902055	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr19:42900693-42901889	HUVEC	blood vessel:	n/a	n/a
50	POLR2A	chr19:42900410-42901900	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:42746379..42748753-chr19:42901046..42902799,2	K562	blood:
2	chr19:42900633..42903687-chr19:42904617..42908034,6	MCF-7	breast:
3	chr19:42900819..42903655-chr19:42904775..42907143,2	MCF-7	breast:
4	chr19:42901625..42903508-chr19:42904581..42908984,3	K562	blood:
5	chr19:42900679..42903538-chr19:42909669..42912049,2	K562	blood:
6	chr19:42894017..42895736-chr19:42900827..42903287,2	MCF-7	breast:
7	chr19:42805304..42808319-chr19:42899510..42903078,3	K562	blood:
8	chr19:42901013..42903466-chr19:42908156..42911805,3	MCF-7	breast:

Variant related genes	Relation type
LIPE-AS1	TF binding region
ENSG00000213904	Chromatin interaction
ENSG00000188368	Chromatin interaction
ENSG00000204957	Chromatin interaction
ENSG00000079435	Chromatin interaction
ENSG00000105427	Chromatin interaction
ENSG00000079462	Chromatin interaction
ENSG00000105723	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS 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	62 gene(s)	inside rSNPs	diseases
5	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
6	nsv911785	chr19:42741124-42917545	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
7	nsv911788	chr19:42887492-42930652	Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv911789	chr19:42901430-42906725	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv911790	chr19:42901430-42908074	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv911791	chr19:42901430-42909478	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv911792	chr19:42901430-42929254	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv911793	chr19:42901430-42929502	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv911794	chr19:42901430-42930652	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv911795	chr19:42901430-42932699	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42900200-42902200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:42900400-42902000	Active TSS	H9 Cell Line	embryonic stem cell
3	chr19:42900400-42902200	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr19:42900400-42902400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr19:42900400-42902400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr19:42900400-42902400	Flanking Active TSS	NHEK	skin
7	chr19:42900600-42902000	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr19:42900600-42902000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
9	chr19:42900600-42902000	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr19:42900600-42902000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr19:42900600-42902000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
12	chr19:42900600-42902000	Active TSS	Fetal Kidney	kidney
13	chr19:42900600-42902000	Flanking Active TSS	Thymus	Thymus
14	chr19:42900600-42902200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr19:42900600-42902200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr19:42900600-42902200	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr19:42900600-42902200	Flanking Active TSS	Fetal Muscle Trunk	muscle
18	chr19:42900600-42902200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr19:42900600-42902200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr19:42900600-42902200	Flanking Active TSS	HSMM	muscle
21	chr19:42900600-42902200	Flanking Active TSS	HUVEC	blood vessel
22	chr19:42900600-42902400	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr19:42900600-42902400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr19:42900600-42902400	Flanking Active TSS	HMEC	breast
25	chr19:42900800-42902000	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr19:42901000-42902000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr19:42901000-42902200	Active TSS	HSMMtube	muscle
28	chr19:42901400-42902000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr19:42901400-42902000	Flanking Active TSS	Primary B cells from peripheral blood	blood
30	chr19:42901400-42902000	Flanking Active TSS	Fetal Intestine Small	intestine
31	chr19:42901400-42902000	Flanking Active TSS	Stomach Mucosa	stomach
32	chr19:42901400-42902200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr19:42901400-42902200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr19:42901400-42902200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr19:42901400-42902200	Flanking Active TSS	Colon Smooth Muscle	Colon
36	chr19:42901400-42902200	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chr19:42901400-42902200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr19:42901400-42902200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr19:42901400-42902200	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr19:42901400-42902200	Flanking Active TSS	K562	blood
41	chr19:42901400-42902200	Flanking Active TSS	Osteobl	bone
42	chr19:42901400-42902400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr19:42901400-42902400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr19:42901400-42902400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
45	chr19:42901400-42902400	Flanking Active TSS	Dnd41	blood
46	chr19:42901400-42902400	Flanking Active TSS	Hela-S3	cervix
47	chr19:42901600-42902000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr19:42901600-42902000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr19:42901600-42902000	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr19:42901600-42902000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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