Variant report

Variant	rs199757828
Chromosome Location	chr19:55865329-55865330
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	MAX	chr19:55864700-55866015	K562	blood:	n/a	chr19:55865340-55865350
2	POLR2A	chr19:55864724-55865787	H1-neurons	neurons:	n/a	n/a
3	TBP	chr19:55865180-55865884	K562	blood:	n/a	n/a
4	CTCF	chr19:55865220-55865370	AG04449	skin:	n/a	n/a
5	ELF1	chr19:55865062-55865411	K562	blood:	n/a	n/a
6	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
7	SIN3A	chr19:55864703-55865882	H1-hESC	embryonic stem cell:	n/a	n/a
8	SP4	chr19:55864969-55865663	H1-hESC	embryonic stem cell:	n/a	chr19:55865380-55865396 chr19:55865428-55865439 chr19:55865428-55865444 chr19:55865359-55865375 chr19:55865458-55865469
9	POLR2A	chr19:55865123-55865350	HCT-116	colon:	n/a	n/a
10	ZKSCAN1	chr19:55865230-55865426	Hela-S3	cervix:	n/a	n/a
11	ZBTB7A	chr19:55865225-55866512	K562	blood:	n/a	chr19:55865945-55865954
12	SP4	chr19:55865162-55865679	H1-hESC	embryonic stem cell:	n/a	chr19:55865380-55865396 chr19:55865428-55865439 chr19:55865428-55865444 chr19:55865359-55865375 chr19:55865458-55865469
13	MAZ	chr19:55865218-55865651	Hela-S3	cervix:	n/a	chr19:55865340-55865350
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	USF2	chr19:55865273-55865385	GM12878	blood:	n/a	n/a
16	E2F6	chr19:55865056-55865494	K562	blood:	n/a	chr19:55865340-55865349
17	STAT3	chr19:55865313-55865516	MCF10A-Er-Src	breast:	n/a	chr19:55865434-55865446
18	POLR2A	chr19:55865178-55865967	K562	blood:	n/a	n/a
19	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
20	MAX	chr19:55865177-55865402	K562	blood:	n/a	chr19:55865340-55865350
21	POLR2A	chr19:55865145-55865952	K562	blood:	n/a	n/a
22	RCOR1	chr19:55865214-55865437	HepG2	liver:	n/a	n/a
23	CCNT2	chr19:55865117-55865572	K562	blood:	n/a	n/a
24	ELF1	chr19:55865100-55865417	K562	blood:	n/a	n/a
25	MAX	chr19:55864874-55865949	A549	lung:	n/a	chr19:55865340-55865350
26	STAT3	chr19:55865216-55865474	MCF10A-Er-Src	breast:	n/a	chr19:55865434-55865446
27	E2F6	chr19:55865108-55865535	K562	blood:	n/a	chr19:55865340-55865349
28	E2F6	chr19:55864933-55865933	A549	lung:	n/a	chr19:55865340-55865349
29	HMGN3	chr19:55865133-55866194	K562	blood:	n/a	n/a
30	BACH1	chr19:55865173-55865372	K562	blood:	n/a	n/a
31	MAX	chr19:55865188-55865427	K562	blood:	n/a	chr19:55865340-55865350
32	MAX	chr19:55865090-55865494	ECC-1	luminal epithelium:	n/a	chr19:55865340-55865350
33	POLR2A	chr19:55865177-55865350	Hela-S3	cervix:	n/a	n/a
34	BHLHE40	chr19:55865154-55865394	K562	blood:	n/a	n/a
35	MAX	chr19:55864965-55865824	A549	lung:	n/a	chr19:55865340-55865350
36	POLR2A	chr19:55865192-55865427	Gliobla	brain:	n/a	n/a
37	POLR2A	chr19:55865096-55865431	HCT-116	colon:	n/a	n/a
38	STAT3	chr19:55865130-55865623	MCF10A-Er-Src	breast:	n/a	chr19:55865434-55865446
39	MAZ	chr19:55865196-55866025	K562	blood:	n/a	chr19:55865340-55865350
40	STAT3	chr19:55865162-55865586	MCF10A-Er-Src	breast:	n/a	chr19:55865434-55865446
41	MYC	chr19:55865247-55865610	K562	blood:	n/a	chr19:55865340-55865350
42	USF1	chr19:55865236-55865444	SK-N-SH_RA	brain:	n/a	n/a
43	CBX3	chr19:55865076-55865472	K562	blood:	n/a	n/a
44	BACH1	chr19:55865175-55865377	H1-hESC	embryonic stem cell:	n/a	n/a
45	REST	chr19:55865124-55865360	SK-N-SH	brain:	n/a	n/a
46	IRF1	chr19:55864964-55865882	K562	blood:	n/a	chr19:55865359-55865373 chr19:55865426-55865440 chr19:55865380-55865394
47	POLR2A	chr19:55865086-55865487	K562	blood:	n/a	n/a
48	USF1	chr19:55865142-55865463	SK-N-SH_RA	brain:	n/a	n/a
49	REST	chr19:55864565-55865603	H1-neurons	neurons:	n/a	chr19:55864674-55864682
50	ZBTB7A	chr19:55865096-55866547	ECC-1	luminal epithelium:	n/a	chr19:55865212-55865221 chr19:55865945-55865954

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:55865288-55865338	AG10803	skin:	n/a
2	chr19:55865288-55865338	LNCaP	prostate:	n/a
3	chr19:55865288-55865338	Caco-2	colon:	n/a
4	chr19:55865288-55865338	SK-N-MC	brain:	n/a
5	chr19:55865288-55865338	SAEC	small airway:	n/a
6	chr19:55865288-55865338	HRCEpiC	kidney:	n/a
7	chr19:55865288-55865338	NHBE	bronchial:	n/a
8	chr19:55865288-55865338	NHDF-neo	bronchial:	n/a
9	chr19:55865288-55865338	AG04449	skin:	fetal
10	chr19:55865288-55865338	NH-A	brain:	n/a
11	chr19:55865288-55865338	ECC-1	luminal epithelium:	n/a
12	chr19:55865288-55865338	MCF10A-Er-Src	breast:	n/a
13	chr19:55865288-55865338	SK-N-SH_RA	brain:	n/a
14	chr19:55865288-55865338	T-47D	breast:	n/a
15	chr19:55865288-55865338	HCM	heart:	n/a
16	chr19:55865288-55865338	HRPEpiC	eye:	n/a
17	chr19:55865288-55865338	RPTEC	kidney:	n/a
18	chr19:55865288-55865338	GM12878	blood:	n/a
19	chr19:55865288-55865338	HCT-116	colon:	n/a
20	chr19:55865288-55865338	H1-hESC	embryonic stem cell:	embryo
21	chr19:55865288-55865338	HAEpiC	amniotic membrane:	n/a
22	chr19:55865288-55865338	IMR90	lung:	fetal
23	chr19:55865288-55865338	PANC-1	pancreas:	n/a
24	chr19:55865288-55865338	SK-N-SH	brain:	n/a
25	chr19:55865288-55865338	GM12891	blood:	n/a
26	chr19:55865288-55865338	Jurkat	blood:	n/a
27	chr19:55865288-55865338	AG04450	lung:	fetal
28	chr19:55865288-55865338	AG09309	skin:	n/a
29	chr19:55865288-55865338	GM06990	blood:	n/a
30	chr19:55865288-55865338	HUVEC	blood vessel:	n/a
31	chr19:55865288-55865338	GM19239	blood:	n/a
32	chr19:55865288-55865338	HMEC	breast:	n/a
33	chr19:55865288-55865338	HL-60	blood:	n/a
34	chr19:55865288-55865338	HIPEpiC	eye:	n/a
35	chr19:55865288-55865338	HRE	kidney:	n/a
36	chr19:55865288-55865338	NT2-D1	testis:	n/a
37	chr19:55865288-55865338	NB4	blood:	n/a
38	chr19:55865288-55865338	MCF-7	breast:	n/a
39	chr19:55865288-55865338	K562	blood:	n/a
40	chr19:55865288-55865338	CMK	blood:	n/a
41	chr19:55865288-55865338	ovcar-3	ovarian:	n/a
42	chr19:55865288-55865338	GM12892	blood:	n/a
43	chr19:55865288-55865338	BJ	skin:	n/a
44	chr19:55865288-55865338	PrEC	prostate:	n/a
45	chr19:55865288-55865338	PFSK-1	brain:	n/a
46	chr19:55865288-55865338	A549	lung:	n/a
47	chr19:55865288-55865338	HEEpiC	esophagus:	n/a
48	chr19:55865288-55865338	AoSMC	blood vessel:	n/a
49	chr19:55865288-55865338	Hepatocyte	liver:	n/a
50	chr19:55865288-55865338	HNPCEpiC	eye:	n/a

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

Variant related genes	Relation type
COX6B2	TF binding region
COX6B2	CpG island
ENSG00000233493	Chromatin interaction
ENSG00000267649	Chromatin interaction
ENSG00000108107	Chromatin interaction
ENSG00000105063	Chromatin interaction
ENSG00000095752	Chromatin interaction
ENSG00000063244	Chromatin interaction
ENSG00000267706	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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55863200-55865800	Bivalent Enhancer	Stomach Mucosa	stomach
2	chr19:55864000-55865400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:55864400-55866000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr19:55864400-55866000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr19:55864400-55866200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
6	chr19:55864600-55865400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
7	chr19:55864600-55865400	Flanking Bivalent TSS/Enh	Right Ventricle	heart
8	chr19:55864600-55865600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
9	chr19:55864600-55866000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr19:55864600-55866200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
11	chr19:55864600-55866200	Enhancers	Lung	lung
12	chr19:55864600-55866400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:55864800-55865400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:55864800-55865400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr19:55864800-55865400	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr19:55864800-55865400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
17	chr19:55864800-55865400	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
18	chr19:55864800-55865400	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
19	chr19:55864800-55865400	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
20	chr19:55864800-55865400	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
21	chr19:55864800-55865400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
22	chr19:55864800-55865400	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
23	chr19:55864800-55865400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
24	chr19:55864800-55865400	Flanking Bivalent TSS/Enh	HepG2	liver
25	chr19:55864800-55865400	Flanking Bivalent TSS/Enh	NHEK	skin
26	chr19:55864800-55865400	Flanking Bivalent TSS/Enh	Osteobl	bone
27	chr19:55864800-55865600	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
28	chr19:55864800-55865600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
29	chr19:55864800-55865800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr19:55864800-55865800	Bivalent/Poised TSS	Fetal Brain Female	brain
31	chr19:55864800-55866000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
32	chr19:55864800-55866000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr19:55864800-55866000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
34	chr19:55864800-55866000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
35	chr19:55864800-55866000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
36	chr19:55864800-55866000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr19:55864800-55866000	Flanking Bivalent TSS/Enh	Thymus	Thymus
38	chr19:55864800-55866000	Flanking Active TSS	HMEC	breast
39	chr19:55864800-55866000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
40	chr19:55864800-55866200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
41	chr19:55864800-55866200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr19:55864800-55866400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
43	chr19:55864800-55866800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
44	chr19:55865000-55865400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr19:55865000-55865400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr19:55865000-55865400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr19:55865000-55865400	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr19:55865000-55865400	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr19:55865000-55865400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr19:55865000-55865400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

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