Variant report

Variant	rs375152717
Chromosome Location	chr19:55954643-55954644
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB7A	chr19:55954531-55954731	K562	blood:	n/a	n/a
2	SUZ12	chr19:55952383-55955792	NT2-D1	testis:	n/a	n/a
3	POLR2A	chr19:55954451-55955086	H1-neurons	neurons:	n/a	n/a
4	E2F6	chr19:55953299-55954845	H1-hESC	embryonic stem cell:	n/a	chr19:55954296-55954308 chr19:55954363-55954372 chr19:55953534-55953545
5	E2F6	chr19:55954315-55954702	K562	blood:	n/a	chr19:55954363-55954372
6	POLR2A	chr19:55954424-55954706	H1-neurons	neurons:	n/a	n/a
7	EGR1	chr19:55954352-55954807	K562	blood:	n/a	chr19:55954358-55954368 chr19:55954365-55954378 chr19:55954362-55954372
8	ZNF263	chr19:55954514-55955526	HEK293-T-REx	kidney:	n/a	n/a
9	EGR1	chr19:55954554-55954759	K562	blood:	n/a	n/a
10	MAX	chr19:55954367-55954903	H1-hESC	embryonic stem cell:	n/a	chr19:55954453-55954462

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:55954621-55954671	ProgFib	skin:	n/a
2	chr19:55954621-55954671	SK-N-SH	brain:	n/a
3	chr19:55954621-55954671	LNCaP	prostate:	n/a
4	chr19:55954621-55954671	HCF	heart:	n/a
5	chr19:55954621-55954671	K562	blood:	n/a
6	chr19:55954621-55954671	PANC-1	pancreas:	n/a
7	chr19:55954621-55954671	HEEpiC	esophagus:	n/a
8	chr19:55954621-55954671	SKMC	muscle:	n/a
9	chr19:55954621-55954671	GM19239	blood:	n/a
10	chr19:55954621-55954671	A549	lung:	n/a
11	chr19:55954621-55954671	NH-A	brain:	n/a
12	chr19:55954621-55954671	HCT-116	colon:	n/a
13	chr19:55954621-55954671	MCF10A-Er-Src	breast:	n/a
14	chr19:55954621-55954671	MCF-7	breast:	n/a
15	chr19:55954621-55954671	HPAEpiC	pulmonary alveolar:	n/a
16	chr19:55954621-55954671	HUVEC	blood vessel:	n/a
17	chr19:55954621-55954671	GM06990	blood:	n/a
18	chr19:55954621-55954671	NT2-D1	testis:	n/a
19	chr19:55954621-55954671	HNPCEpiC	eye:	n/a
20	chr19:55954621-55954671	AG09319	gingival:	n/a
21	chr19:55954621-55954671	NB4	blood:	n/a
22	chr19:55954621-55954671	Hela-S3	cervix:	n/a
23	chr19:55954621-55954671	GM12892	blood:	n/a
24	chr19:55954621-55954671	HepG2	liver:	n/a
25	chr19:55954621-55954671	HIPEpiC	eye:	n/a
26	chr19:55954621-55954671	AG04449	skin:	fetal
27	chr19:55954621-55954671	HRPEpiC	eye:	n/a
28	chr19:55954621-55954671	HAEpiC	amniotic membrane:	n/a
29	chr19:55954621-55954671	IMR90	lung:	fetal
30	chr19:55954621-55954671	GM12891	blood:	n/a
31	chr19:55954621-55954671	U87	brain:	n/a
32	chr19:55954621-55954671	HEK293	kidney:	embryo
33	chr19:55954621-55954671	AG10803	skin:	n/a
34	chr19:55954621-55954671	HRCEpiC	kidney:	n/a
35	chr19:55954621-55954671	H1-hESC	embryonic stem cell:	embryo
36	chr19:55954621-55954671	BJ	skin:	n/a
37	chr19:55954621-55954671	T-47D	breast:	n/a
38	chr19:55954621-55954671	HL-60	blood:	n/a
39	chr19:55954621-55954671	ECC-1	luminal epithelium:	n/a
40	chr19:55954621-55954671	ovcar-3	ovarian:	n/a
41	chr19:55954621-55954671	AG04450	lung:	fetal
42	chr19:55954621-55954671	AG09309	skin:	n/a
43	chr19:55954621-55954671	Hepatocyte	liver:	n/a
44	chr19:55954621-55954671	HMEC	breast:	n/a
45	chr19:55954621-55954671	RPTEC	kidney:	n/a
46	chr19:55954621-55954671	AoSMC	blood vessel:	n/a
47	chr19:55954621-55954671	SK-N-MC	brain:	n/a
48	chr19:55954621-55954671	NHDF-neo	bronchial:	n/a
49	chr19:55954621-55954671	CMK	blood:	n/a
50	chr19:55954621-55954671	HCM	heart:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55954516..55956237-chr19:55997093..55998722,2	K562	blood:
2	chr19:55917609..55921205-chr19:55953986..55957164,3	MCF-7	breast:
3	chr19:55953960..55955842-chr19:55970927..55973653,2	MCF-7	breast:
4	chr19:55896562..55898629-chr19:55953119..55955892,2	MCF-7	breast:
5	chr19:55917160..55921382-chr19:55952217..55958073,12	K562	blood:
6	chr19:55910844..55913006-chr19:55952542..55954951,2	K562	blood:

No data

Variant related genes	Relation type
SHISA7	TF binding region
SHISA7	CpG island
ENSG00000108106	Chromatin interaction
ENSG00000267093	Chromatin interaction
ENSG00000090971	Chromatin interaction
ENSG00000108107	Chromatin interaction
ENSG00000063241	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv912473	chr19:55874642-56145428	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer 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	233 gene(s)	inside rSNPs	diseases
5	nsv912477	chr19:55936376-55972950	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv912478	chr19:55936376-56045522	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
7	nsv912479	chr19:55942456-55969746	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	esv3376613	chr19:55952665-55955513	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
9	esv3422614	chr19:55952890-55955638	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55951600-55955200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
2	chr19:55951600-55955200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr19:55951800-55954800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
4	chr19:55951800-55955000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr19:55952000-55954800	Bivalent Enhancer	Fetal Stomach	stomach
6	chr19:55952000-55955200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
7	chr19:55952200-55955400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr19:55952600-55954800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:55952800-55955000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:55952800-55955600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
11	chr19:55953400-55954800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr19:55953400-55955000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
13	chr19:55953400-55955000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr19:55953400-55955200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
15	chr19:55953400-55956400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
16	chr19:55953600-55954800	Enhancers	Primary hematopoietic stem cells	blood
17	chr19:55953600-55954800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr19:55953600-55955000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
19	chr19:55953600-55955000	Active TSS	Brain Anterior Caudate	brain
20	chr19:55953600-55955000	Active TSS	Brain Cingulate Gyrus	brain
21	chr19:55953600-55955000	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr19:55953600-55955200	Bivalent Enhancer	Spleen	Spleen
23	chr19:55954200-55954800	Bivalent/Poised TSS	Thymus	Thymus
24	chr19:55954200-55955400	Bivalent Enhancer	Fetal Brain Male	brain
25	chr19:55954200-55962800	Weak transcription	Right Atrium	heart
26	chr19:55954400-55954800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr19:55954400-55954800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
28	chr19:55954400-55954800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
29	chr19:55954400-55955200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
30	chr19:55954400-55955200	Bivalent Enhancer	Primary T cells from cord blood	blood
31	chr19:55954400-55955200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
32	chr19:55954400-55955200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr19:55954400-55955200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr19:55954400-55955200	Active TSS	Brain Substantia Nigra	brain
35	chr19:55954400-55955400	Bivalent Enhancer	Fetal Thymus	thymus
36	chr19:55954400-55957600	Weak transcription	Pancreas	Pancrea
37	chr19:55954600-55954800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
38	chr19:55954600-55954800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr19:55954600-55954800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
40	chr19:55954600-55954800	Flanking Bivalent TSS/Enh	Dnd41	blood
41	chr19:55954600-55954800	Active TSS	K562	blood
42	chr19:55954600-55954800	Bivalent Enhancer	NH-A	brain
43	chr19:55954600-55955000	Enhancers	Brain Angular Gyrus	brain
44	chr19:55954600-55955000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
45	chr19:55954600-55955000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
46	chr19:55954600-55955200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr19:55954600-55955200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
48	chr19:55954600-55955600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr19:55954600-55955600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr19:55954600-55955600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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