Variant report

Variant	rs368143749
Chromosome Location	chr19:42901544-42901545
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	POLR2A	chr19:42900481-42901839	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr19:42900752-42901590	NB4	blood:	n/a	n/a
3	POLR2A	chr19:42900382-42901960	HUVEC	blood vessel:	n/a	n/a
4	POU2F2	chr19:42900796-42901834	GM12878	blood:	n/a	n/a
5	POLR2A	chr19:42900813-42901601	GM19193	blood:	n/a	n/a
6	JUND	chr19:42900573-42901671	Hela-S3	cervix:	n/a	chr19:42901127-42901136
7	POLR2A	chr19:42900750-42901929	H1-neurons	neurons:	n/a	n/a
8	MYC	chr19:42901355-42901847	HUVEC	blood vessel:	n/a	chr19:42901461-42901471
9	NFATC1	chr19:42901180-42901683	GM12878	blood:	n/a	n/a
10	POLR2A	chr19:42900432-42901801	HCT-116	colon:	n/a	n/a
11	POLR2A	chr19:42900695-42901627	MCF-7	breast:	n/a	n/a
12	POLR2A	chr19:42900740-42901612	GM12891	blood:	n/a	n/a
13	MAX	chr19:42900507-42901811	K562	blood:	n/a	chr19:42900536-42900545 chr19:42901461-42901471
14	POLR2A	chr19:42900466-42901803	U87	brain:	n/a	n/a
15	RUNX3	chr19:42900989-42901752	GM12878	blood:	n/a	n/a
16	SIN3A	chr19:42900911-42901651	GM12878	blood:	n/a	n/a
17	POLR2A	chr19:42900743-42901544	PANC-1	pancreas:	n/a	n/a
18	REST	chr19:42900270-42902183	A549	lung:	n/a	n/a
19	TEAD4	chr19:42900389-42901577	K562	blood:	n/a	n/a
20	YY1	chr19:42900851-42901572	K562	blood:	n/a	chr19:42901457-42901466 chr19:42901207-42901221
21	ELF1	chr19:42900845-42901609	MCF-7	breast:	n/a	chr19:42901326-42901338 chr19:42901458-42901470
22	MAX	chr19:42900462-42902162	A549	lung:	n/a	chr19:42900536-42900545 chr19:42901461-42901471
23	STAT5A	chr19:42901231-42901714	GM12878	blood:	n/a	n/a
24	POLR2A	chr19:42901201-42901569	GM12891	blood:	n/a	n/a
25	MAX	chr19:42900490-42901944	ECC-1	luminal epithelium:	n/a	chr19:42900536-42900545 chr19:42901461-42901471
26	RUNX3	chr19:42900899-42901876	GM12878	blood:	n/a	n/a
27	POLR2A	chr19:42900582-42901661	SK-N-SH	brain:	n/a	n/a
28	NFYB	chr19:42900939-42901630	Hela-S3	cervix:	n/a	chr19:42901143-42901158 chr19:42901146-42901160
29	BACH1	chr19:42900835-42901762	H1-hESC	embryonic stem cell:	n/a	n/a
30	TAF1	chr19:42900761-42901789	PFSK-1	brain:	n/a	n/a
31	SIN3AK20	chr19:42900360-42901754	MCF-7	breast:	n/a	n/a
32	MAX	chr19:42900730-42901970	ECC-1	luminal epithelium:	n/a	chr19:42901461-42901471
33	REST	chr19:42900445-42902029	A549	lung:	n/a	n/a
34	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
35	POLR2A	chr19:42900501-42901650	K562	blood:	n/a	n/a
36	POLR2A	chr19:42900870-42901595	ProgFib	skin:	n/a	n/a
37	YY1	chr19:42901085-42901609	GM12891	blood:	n/a	chr19:42901457-42901466 chr19:42901207-42901221
38	ATF2	chr19:42900683-42901572	GM12878	blood:	n/a	n/a
39	TAF1	chr19:42900751-42901579	H1-neurons	neurons:	n/a	n/a
40	SP1	chr19:42900399-42901655	H1-hESC	embryonic stem cell:	n/a	chr19:42901460-42901474 chr19:42901203-42901215 chr19:42901147-42901168 chr19:42901203-42901215 chr19:42901463-42901475 chr19:42901463-42901475
41	POLR2A	chr19:42900793-42901593	HUVEC	blood vessel:	n/a	n/a
42	ELF1	chr19:42900858-42901915	MCF-7	breast:	n/a	chr19:42901326-42901338 chr19:42901458-42901470
43	MAX	chr19:42900513-42902175	K562	blood:	n/a	chr19:42900536-42900545 chr19:42901461-42901471
44	POLR2A	chr19:42900352-42901899	PFSK-1	brain:	n/a	n/a
45	POLR2A	chr19:42900466-42901788	U87	brain:	n/a	n/a
46	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
47	NFYA	chr19:42900964-42901631	GM12878	blood:	n/a	chr19:42901146-42901160
48	MAX	chr19:42899884-42902339	A549	lung:	n/a	chr19:42900536-42900545 chr19:42901461-42901471 chr19:42899996-42900005
49	MYC	chr19:42900546-42901895	MCF10A-Er-Src	breast:	n/a	chr19:42901461-42901471
50	TAF1	chr19:42900614-42901572	H1-hESC	embryonic stem cell:	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	chr19:42900679..42903538-chr19:42909669..42912049,2	K562	blood:
5	chr19:42894017..42895736-chr19:42900827..42903287,2	MCF-7	breast:
6	chr19:42805304..42808319-chr19:42899510..42903078,3	K562	blood:
7	chr19:42901013..42903466-chr19:42908156..42911805,3	MCF-7	breast:

Variant related genes	Relation type
LIPE-AS1	TF binding region
ENSG00000105723	Chromatin interaction
ENSG00000079462	Chromatin interaction
ENSG00000079435	Chromatin interaction
ENSG00000188368	Chromatin interaction
ENSG00000204957	Chromatin interaction
ENSG00000105427	Chromatin interaction
ENSG00000213904	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	chr19:42900400-42901600	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr19:42900400-42901600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr19:42900400-42901800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr19:42900400-42901800	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr19:42900400-42902000	Active TSS	H9 Cell Line	embryonic stem cell
7	chr19:42900400-42902200	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr19:42900400-42902400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr19:42900400-42902400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr19:42900400-42902400	Flanking Active TSS	NHEK	skin
11	chr19:42900600-42901600	Active TSS	H1 Cell Line	embryonic stem cell
12	chr19:42900600-42901600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:42900600-42901600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:42900600-42901600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr19:42900600-42901600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr19:42900600-42901600	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr19:42900600-42901600	Active TSS	Muscle Satellite Cultured Cells	--
18	chr19:42900600-42901600	Active TSS	Brain Anterior Caudate	brain
19	chr19:42900600-42901600	Active TSS	Brain Hippocampus Middle	brain
20	chr19:42900600-42901600	Active TSS	Fetal Intestine Large	intestine
21	chr19:42900600-42901800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr19:42900600-42901800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr19:42900600-42901800	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr19:42900600-42901800	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr19:42900600-42901800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr19:42900600-42901800	Flanking Active TSS	Placenta	Placenta
27	chr19:42900600-42902000	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr19:42900600-42902000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
29	chr19:42900600-42902000	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr19:42900600-42902000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr19:42900600-42902000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
32	chr19:42900600-42902000	Active TSS	Fetal Kidney	kidney
33	chr19:42900600-42902000	Flanking Active TSS	Thymus	Thymus
34	chr19:42900600-42902200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr19:42900600-42902200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr19:42900600-42902200	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr19:42900600-42902200	Flanking Active TSS	Fetal Muscle Trunk	muscle
38	chr19:42900600-42902200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr19:42900600-42902200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr19:42900600-42902200	Flanking Active TSS	HSMM	muscle
41	chr19:42900600-42902200	Flanking Active TSS	HUVEC	blood vessel
42	chr19:42900600-42902400	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr19:42900600-42902400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr19:42900600-42902400	Flanking Active TSS	HMEC	breast
45	chr19:42900800-42901600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr19:42900800-42901600	Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr19:42900800-42901600	Active TSS	Brain Germinal Matrix	brain
48	chr19:42900800-42901600	Active TSS	Colonic Mucosa	Colon
49	chr19:42900800-42901600	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr19:42900800-42901600	Active TSS	Esophagus	oesophagus

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