Variant report

Variant	rs553344492
Chromosome Location	chr19:55865697-55865698
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	MAX	chr19:55864700-55866015	K562	blood:	n/a	chr19:55865340-55865350
2	CBX3	chr19:55865670-55865987	K562	blood:	n/a	n/a
3	POLR2A	chr19:55864724-55865787	H1-neurons	neurons:	n/a	n/a
4	TBP	chr19:55865180-55865884	K562	blood:	n/a	n/a
5	TAF1	chr19:55865640-55865855	K562	blood:	n/a	n/a
6	POLR2A	chr19:55865686-55865755	H1-hESC	embryonic stem cell:	n/a	n/a
7	ELF1	chr19:55865570-55865912	K562	blood:	n/a	n/a
8	SP1	chr19:55864929-55865951	A549	lung:	n/a	chr19:55865382-55865394 chr19:55865428-55865439 chr19:55865383-55865392 chr19:55865362-55865372 chr19:55865428-55865440 chr19:55865339-55865351 chr19:55865157-55865171 chr19:55865458-55865469 chr19:55865382-55865394 chr19:55865362-55865372 chr19:55865429-55865443
9	SIN3A	chr19:55864703-55865882	H1-hESC	embryonic stem cell:	n/a	n/a
10	E2F6	chr19:55865597-55866022	K562	blood:	n/a	chr19:55865945-55865959
11	HEY1	chr19:55865695-55865949	K562	blood:	n/a	n/a
12	ZBTB7A	chr19:55865225-55866512	K562	blood:	n/a	chr19:55865945-55865954
13	POLR2A	chr19:55865567-55865949	K562	blood:	n/a	n/a
14	SP1	chr19:55865012-55865980	A549	lung:	n/a	chr19:55865382-55865394 chr19:55865428-55865439 chr19:55865383-55865392 chr19:55865362-55865372 chr19:55865428-55865440 chr19:55865339-55865351 chr19:55865157-55865171 chr19:55865458-55865469 chr19:55865382-55865394 chr19:55865362-55865372 chr19:55865429-55865443
15	POLR2A	chr19:55865681-55865959	MCF-7	breast:	n/a	n/a
16	POLR2A	chr19:55865178-55865967	K562	blood:	n/a	n/a
17	SP1	chr19:55865045-55865806	H1-hESC	embryonic stem cell:	n/a	chr19:55865382-55865394 chr19:55865428-55865439 chr19:55865383-55865392 chr19:55865362-55865372 chr19:55865428-55865440 chr19:55865339-55865351 chr19:55865157-55865171 chr19:55865458-55865469 chr19:55865382-55865394 chr19:55865362-55865372 chr19:55865429-55865443
18	POLR2A	chr19:55865145-55865952	K562	blood:	n/a	n/a
19	HEY1	chr19:55865672-55865893	K562	blood:	n/a	n/a
20	MAX	chr19:55864874-55865949	A549	lung:	n/a	chr19:55865340-55865350
21	E2F6	chr19:55864933-55865933	A549	lung:	n/a	chr19:55865340-55865349
22	HMGN3	chr19:55865133-55866194	K562	blood:	n/a	n/a
23	ELF1	chr19:55865640-55866039	K562	blood:	n/a	n/a
24	MAX	chr19:55864965-55865824	A549	lung:	n/a	chr19:55865340-55865350
25	ELF1	chr19:55865653-55866085	GM12878	blood:	n/a	n/a
26	ZBTB7A	chr19:55865547-55866468	ECC-1	luminal epithelium:	n/a	chr19:55865945-55865954
27	MAZ	chr19:55865196-55866025	K562	blood:	n/a	chr19:55865340-55865350
28	HDAC2	chr19:55865644-55865819	H1-hESC	embryonic stem cell:	n/a	n/a
29	ZC3H11A	chr19:55865667-55865814	K562	blood:	n/a	n/a
30	SIN3AK20	chr19:55865525-55866042	PANC-1	pancreas:	n/a	n/a
31	IRF1	chr19:55864964-55865882	K562	blood:	n/a	chr19:55865359-55865373 chr19:55865426-55865440 chr19:55865380-55865394
32	ZBTB7A	chr19:55865387-55865992	K562	blood:	n/a	chr19:55865945-55865954
33	ZBTB7A	chr19:55865096-55866547	ECC-1	luminal epithelium:	n/a	chr19:55865212-55865221 chr19:55865945-55865954
34	YY1	chr19:55865691-55865913	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:55864929..55868342-chr19:55869494..55871064,3	MCF-7	breast:
2	chr19:55865530..55867437-chr19:55869222..55871050,2	K562	blood:
3	chr19:55725474..55728358-chr19:55864550..55866958,2	K562	blood:
4	chr19:55768392..55770990-chr19:55864103..55865699,2	MCF-7	breast:
5	chr19:55863699..55867009-chr19:55895864..55899065,4	MCF-7	breast:
6	chr19:55864955..55867658-chr19:55880222..55883231,3	MCF-7	breast:
7	chr19:55865626..55867203-chr19:55869204..55871320,2	K562	blood:
8	chr19:55864065..55867080-chr19:55895058..55897568,4	K562	blood:
9	chr19:55865213..55868465-chr19:55868824..55871801,4	MCF-7	breast:
10	chr19:55864307..55867114-chr19:56165229..56167152,3	K562	blood:
11	chr19:55726786..55728358-chr19:55864550..55866363,2	K562	blood:
12	chr19:55862642..55868480-chr19:55895176..55899926,10	K562	blood:
13	chr19:55865425..55868489-chr19:55917598..55920755,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM71E2-1	chr19:55865476-55865907	NONHSAT068028
2	lnc-FAM71E2-1	chr19:55865508-55866055	NONHSAT068029

Variant related genes	Relation type
COX6B2	TF binding region
ENSG00000105063	Chromatin interaction
ENSG00000233493	Chromatin interaction
ENSG00000108107	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000063244	Chromatin interaction
ENSG00000095752	Chromatin interaction
ENSG00000267706	Chromatin interaction
ENSG00000267649	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	esv1816335	chr19:55683977-55901099	Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1065760	chr19:55721521-55929740	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
3	nsv912455	chr19:55725410-55879872	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv912456	chr19:55725410-55925500	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
5	nsv912457	chr19:55725410-56019597	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	228 gene(s)	inside rSNPs	diseases
6	nsv432086	chr19:55807586-56050844	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
7	nsv912460	chr19:55814881-55897327	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
8	nsv912461	chr19:55845386-55897327	Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
9	nsv470162	chr19:55845386-55902257	Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
10	nsv912462	chr19:55845386-55925500	Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
11	nsv912463	chr19:55845386-56004901	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
12	nsv912464	chr19:55850269-55921164	Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer 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 miRNA target site	203 gene(s)	inside rSNPs	diseases
13	esv1799638	chr19:55850652-55883879	Weak transcription Strong transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS 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 miRNA target site	28 gene(s)	inside rSNPs	diseases
14	nsv516199	chr19:55854313-55901099	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
15	nsv912465	chr19:55854313-55935184	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
16	esv3430654	chr19:55864590-55867488	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
17	esv3405241	chr19:55865165-55868013	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55863200-55865800	Bivalent Enhancer	Stomach Mucosa	stomach
2	chr19:55864400-55866000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr19:55864400-55866000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr19:55864400-55866200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
5	chr19:55864600-55866000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr19:55864600-55866200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
7	chr19:55864600-55866200	Enhancers	Lung	lung
8	chr19:55864600-55866400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:55864800-55865800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr19:55864800-55865800	Bivalent/Poised TSS	Fetal Brain Female	brain
11	chr19:55864800-55866000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr19:55864800-55866000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr19:55864800-55866000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
14	chr19:55864800-55866000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
15	chr19:55864800-55866000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
16	chr19:55864800-55866000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr19:55864800-55866000	Flanking Bivalent TSS/Enh	Thymus	Thymus
18	chr19:55864800-55866000	Flanking Active TSS	HMEC	breast
19	chr19:55864800-55866000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
20	chr19:55864800-55866200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
21	chr19:55864800-55866200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr19:55864800-55866400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
23	chr19:55864800-55866800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
24	chr19:55865000-55865800	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr19:55865000-55865800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr19:55865000-55865800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr19:55865000-55865800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr19:55865000-55865800	Bivalent/Poised TSS	Psoas Muscle	Psoas
29	chr19:55865000-55865800	Active TSS	Hela-S3	cervix
30	chr19:55865000-55866000	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr19:55865000-55866000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
32	chr19:55865000-55866000	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
33	chr19:55865000-55866200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
34	chr19:55865000-55866200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
35	chr19:55865000-55866400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
36	chr19:55865000-55866400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr19:55865000-55866400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr19:55865200-55865800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
39	chr19:55865200-55865800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr19:55865200-55865800	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr19:55865200-55865800	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr19:55865200-55865800	Active TSS	Rectal Mucosa Donor 31	rectum
43	chr19:55865200-55865800	Flanking Bivalent TSS/Enh	Spleen	Spleen
44	chr19:55865200-55866000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
45	chr19:55865200-55866000	Active TSS	Duodenum Mucosa	Duodenum
46	chr19:55865200-55866000	Bivalent Enhancer	Fetal Brain Male	brain
47	chr19:55865200-55866000	Enhancers	Fetal Heart	heart
48	chr19:55865200-55866000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
49	chr19:55865200-55866000	Active TSS	K562	blood
50	chr19:55865200-55866200	Active TSS	Breast Myoepithelial Primary Cells	Breast

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