Variant report

Variant	rs75588910
Chromosome Location	chr19:53104060-53104061
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	FOSL2	chr19:53103887-53104722	HepG2	liver:	n/a	chr19:53104343-53104350
2	ZNF263	chr19:53103937-53104383	HEK293-T-REx	kidney:	n/a	chr19:53104085-53104094
3	CTCF	chr19:53104000-53104150	AG04450	lung:	n/a	n/a
4	MAZ	chr19:53103779-53105120	GM12878	blood:	n/a	chr19:53104498-53104508 chr19:53104431-53104441
5	POLR2A	chr19:53103911-53104203	H1-hESC	embryonic stem cell:	n/a	n/a
6	HNF4A	chr19:53104023-53104652	HepG2	liver:	n/a	chr19:53104161-53104174 chr19:53104281-53104296 chr19:53104160-53104175 chr19:53104162-53104174 chr19:53104160-53104175 chr19:53104162-53104174 chr19:53104160-53104175
7	MXI1	chr19:53103720-53105408	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr19:53103762-53105129	K562	blood:	n/a	n/a
9	CTCF	chr19:53104014-53104123	LNCaP	prostate:	n/a	n/a
10	POLR2A	chr19:53103946-53104735	HepG2	liver:	n/a	n/a
11	POLR2A	chr19:53103911-53104782	HepG2	liver:	n/a	n/a
12	ZBTB7A	chr19:53104043-53104270	K562	blood:	n/a	n/a
13	POU2F2	chr19:53103917-53104833	GM12878	blood:	n/a	chr19:53104500-53104512 chr19:53104284-53104297
14	POLR2A	chr19:53103938-53104180	GM12878	blood:	n/a	n/a
15	RAD21	chr19:53104039-53105448	IMR90	lung:	n/a	chr19:53104432-53104444 chr19:53105075-53105088
16	ZNF143	chr19:53103990-53104605	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr19:53103825-53105098	GM12878	blood:	n/a	n/a
18	CTCF	chr19:53104038-53104719	GM12878	blood:	n/a	chr19:53104432-53104450 chr19:53104434-53104447
19	POLR2A	chr19:53103994-53105025	HepG2	liver:	n/a	n/a
20	RUNX3	chr19:53103916-53104185	GM12878	blood:	n/a	n/a
21	E2F6	chr19:53103963-53104178	K562	blood:	n/a	n/a
22	CTCF	chr19:53104000-53104150	HMEC	breast:	n/a	n/a
23	RAD21	chr19:53103898-53104606	SK-N-SH_RA	brain:	n/a	chr19:53104432-53104444
24	ELF1	chr19:53103888-53104114	K562	blood:	n/a	n/a
25	POLR2A	chr19:53103994-53104975	GM19193	blood:	n/a	n/a
26	POLR2A	chr19:53103912-53104086	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAX	chr19:53103961-53104210	K562	blood:	n/a	n/a
28	CTCF	chr19:53103960-53104110	HepG2	liver:	n/a	n/a
29	POLR2A	chr19:53103904-53105174	MCF-7	breast:	n/a	n/a
30	POLR2A	chr19:53103932-53104778	HepG2	liver:	n/a	n/a
31	POLR2A	chr19:53103962-53104829	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr19:53103950-53104196	HepG2	liver:	n/a	n/a
33	CTCF	chr19:53103911-53104654	IMR90	lung:	n/a	chr19:53104432-53104450 chr19:53104434-53104447
34	RAD21	chr19:53103849-53104423	HepG2	liver:	n/a	n/a
35	MAZ	chr19:53103821-53106145	IMR90	lung:	n/a	chr19:53104498-53104508 chr19:53104431-53104441
36	HNF4A	chr19:53104009-53104573	HepG2	liver:	n/a	chr19:53104161-53104174 chr19:53104281-53104296 chr19:53104160-53104175 chr19:53104162-53104174 chr19:53104160-53104175 chr19:53104162-53104174 chr19:53104160-53104175
37	CTCF	chr19:53103940-53104090	SK-N-SH_RA	brain:	n/a	n/a
38	POLR2A	chr19:53103932-53104383	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr19:53103876-53105236	K562	blood:	n/a	n/a
40	POLR2A	chr19:53104004-53104889	GM12892	blood:	n/a	n/a
41	TAF1	chr19:53103995-53104831	H1-hESC	embryonic stem cell:	n/a	n/a
42	MAZ	chr19:53104059-53104650	HepG2	liver:	n/a	chr19:53104498-53104508 chr19:53104431-53104441
43	HEY1	chr19:53103832-53104762	HepG2	liver:	n/a	n/a
44	ELF1	chr19:53103866-53104806	GM12878	blood:	n/a	chr19:53104425-53104437 chr19:53104481-53104490 chr19:53104432-53104444 chr19:53104480-53104493
45	CTCF	chr19:53104044-53104096	MCF-7	breast:	n/a	n/a
46	CTCF	chr19:53104000-53104150	GM12873	blood:	n/a	n/a
47	POLR2A	chr19:53104001-53104945	SK-N-MC	brain:	n/a	n/a
48	MAZ	chr19:53104000-53105407	K562	blood:	n/a	chr19:53104498-53104508 chr19:53104431-53104441
49	CTCF	chr19:53103956-53104100	Pancreas_OC	pancreas:	n/a	n/a
50	SP1	chr19:53104004-53104698	HepG2	liver:	n/a	chr19:53104498-53104512 chr19:53104431-53104440 chr19:53104499-53104508 chr19:53104498-53104508 chr19:53104518-53104530 chr19:53104497-53104509 chr19:53104498-53104507 chr19:53104420-53104429 chr19:53104519-53104528 chr19:53104497-53104509 chr19:53104430-53104442 chr19:53104498-53104508 chr19:53104520-53104529 chr19:53104431-53104445 chr19:53104432-53104441 chr19:53104431-53104441 chr19:53104430-53104442 chr19:53104519-53104528 chr19:53104518-53104530

No.	Distal block	Cell Line	Cell type
1	chr19:53098815..53100632-chr19:53103081..53105260,2	K562	blood:
2	chr19:53098492..53100632-chr19:53102754..53104581,2	K562	blood:
3	chr19:53030382..53031999-chr19:53102744..53106373,4	K562	blood:
4	chr19:53103475..53106137-chr19:53106571..53108256,2	K562	blood:
5	chr10:79800834..79801581-chr19:53103963..53104926,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000268970	TF binding region
ENSG00000198482	Chromatin interaction
ENSG00000123870	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057296	chr19:52950339-53396986	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1065584	chr19:53043126-53127459	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv833874	chr19:53058014-53257875	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv458743	chr19:53065661-53114267	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv580027	chr19:53065661-53114267	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv912304	chr19:53071155-53114267	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv963070	chr19:53091108-53105222	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv912305	chr19:53092465-53349850	Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv912306	chr19:53092465-53400760	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv912307	chr19:53092465-53433054	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv912308	chr19:53092465-53436337	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
12	nsv912309	chr19:53092465-53440653	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
13	nsv912310	chr19:53092465-53451291	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
14	nsv828616	chr19:53095216-53137823	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
15	nsv912311	chr19:53103875-53212361	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
16	nsv912312	chr19:53103875-53296371	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
17	nsv912313	chr19:53103875-53436337	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 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	chr19:53091000-53104200	Weak transcription	Spleen	Spleen
2	chr19:53100000-53104200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:53101000-53104200	Weak transcription	Small Intestine	intestine
4	chr19:53103400-53104200	Flanking Active TSS	Dnd41	blood
5	chr19:53103400-53105200	Active TSS	HSMMtube	muscle
6	chr19:53103400-53105600	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr19:53103600-53104200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr19:53103600-53104200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr19:53103600-53104200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr19:53103600-53104200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr19:53103600-53104200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr19:53103600-53104200	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr19:53103600-53104200	Flanking Active TSS	Brain Hippocampus Middle	brain
14	chr19:53103600-53104600	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr19:53103600-53104800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr19:53103600-53105000	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr19:53103600-53105000	Active TSS	Colonic Mucosa	Colon
18	chr19:53103600-53105200	Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr19:53103600-53105600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr19:53103600-53105800	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr19:53103800-53104200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:53103800-53104200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr19:53103800-53104200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
24	chr19:53103800-53104200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr19:53103800-53104200	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr19:53103800-53104200	Flanking Active TSS	Primary B cells from peripheral blood	blood
27	chr19:53103800-53104200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
28	chr19:53103800-53104200	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr19:53103800-53104200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr19:53103800-53104200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr19:53103800-53104200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr19:53103800-53104200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr19:53103800-53104200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr19:53103800-53104200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr19:53103800-53104200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr19:53103800-53104200	Flanking Active TSS	Liver	Liver
37	chr19:53103800-53104200	Flanking Active TSS	Brain Anterior Caudate	brain
38	chr19:53103800-53104200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
39	chr19:53103800-53104200	Flanking Active TSS	Fetal Brain Male	brain
40	chr19:53103800-53104200	Flanking Active TSS	Fetal Brain Female	brain
41	chr19:53103800-53104200	Flanking Active TSS	Fetal Muscle Trunk	muscle
42	chr19:53103800-53104200	Flanking Active TSS	Fetal Muscle Leg	muscle
43	chr19:53103800-53104200	Flanking Active TSS	Placenta	Placenta
44	chr19:53103800-53104200	Flanking Active TSS	Fetal Thymus	thymus
45	chr19:53103800-53104200	Flanking Active TSS	Psoas Muscle	Psoas
46	chr19:53103800-53104200	Flanking Active TSS	Rectal Smooth Muscle	rectum
47	chr19:53103800-53104200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr19:53103800-53104200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr19:53103800-53104200	Flanking Active TSS	Thymus	Thymus
50	chr19:53103800-53104200	Flanking Active TSS	HMEC	breast

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