Variant report

Variant	rs532778206
Chromosome Location	chr19:38721070-38721071
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr19:38720140-38721150	IMR90	lung:	n/a	n/a
2	REST	chr19:38718508-38721161	H1-neurons	neurons:	n/a	chr19:38718827-38718837 chr19:38719471-38719484 chr19:38718636-38718649 chr19:38720543-38720556

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:38721070-38721120	Jurkat	blood:	n/a
2	chr19:38721070-38721120	K562	blood:	n/a
3	chr19:38721070-38721120	HRCEpiC	kidney:	n/a
4	chr19:38721070-38721120	GM12891	blood:	n/a
5	chr19:38721070-38721120	HUVEC	blood vessel:	n/a
6	chr19:38721070-38721120	NHDF-neo	bronchial:	n/a
7	chr19:38721070-38721120	SK-N-SH_RA	brain:	n/a
8	chr19:38721070-38721120	HCM	heart:	n/a
9	chr19:38721070-38721120	HPAEpiC	pulmonary alveolar:	n/a
10	chr19:38721070-38721120	BE2_C	brain:	n/a
11	chr19:38721070-38721120	A549	lung:	n/a
12	chr19:38721070-38721120	ovcar-3	ovarian:	n/a
13	chr19:38721070-38721120	HL-60	blood:	n/a
14	chr19:38721070-38721120	GM19239	blood:	n/a
15	chr19:38721070-38721120	SK-N-SH	brain:	n/a
16	chr19:38721070-38721120	HEK293	kidney:	embryo
17	chr19:38721070-38721120	HMEC	breast:	n/a
18	chr19:38721070-38721120	AG04449	skin:	fetal
19	chr19:38721070-38721120	AoSMC	blood vessel:	n/a
20	chr19:38721070-38721120	SAEC	small airway:	n/a
21	chr19:38721070-38721120	T-47D	breast:	n/a
22	chr19:38721070-38721120	HAEpiC	amniotic membrane:	n/a
23	chr19:38721070-38721120	NHBE	bronchial:	n/a
24	chr19:38721070-38721120	AG04450	lung:	fetal
25	chr19:38721070-38721120	LNCaP	prostate:	n/a
26	chr19:38721070-38721120	Caco-2	colon:	n/a
27	chr19:38721070-38721120	SKMC	muscle:	n/a
28	chr19:38721070-38721120	NT2-D1	testis:	n/a
29	chr19:38721070-38721120	ECC-1	luminal epithelium:	n/a
30	chr19:38721070-38721120	RPTEC	kidney:	n/a
31	chr19:38721070-38721120	PANC-1	pancreas:	n/a
32	chr19:38721070-38721120	NH-A	brain:	n/a
33	chr19:38721070-38721120	GM12892	blood:	n/a
34	chr19:38721070-38721120	H1-hESC	embryonic stem cell:	embryo
35	chr19:38721070-38721120	GM06990	blood:	n/a
36	chr19:38721070-38721120	Hepatocyte	liver:	n/a
37	chr19:38721070-38721120	SK-N-MC	brain:	n/a
38	chr19:38721070-38721120	HEEpiC	esophagus:	n/a
39	chr19:38721070-38721120	HCF	heart:	n/a
40	chr19:38721070-38721120	IMR90	lung:	fetal
41	chr19:38721070-38721120	AG09319	gingival:	n/a
42	chr19:38721070-38721120	AG09309	skin:	n/a
43	chr19:38721070-38721120	HepG2	liver:	n/a
44	chr19:38721070-38721120	PFSK-1	brain:	n/a
45	chr19:38721070-38721120	CMK	blood:	n/a
46	chr19:38721070-38721120	BJ	skin:	n/a
47	chr19:38721070-38721120	HNPCEpiC	eye:	n/a
48	chr19:38721070-38721120	MCF10A-Er-Src	breast:	n/a
49	chr19:38721070-38721120	HIPEpiC	eye:	n/a
50	chr19:38721070-38721120	ProgFib	skin:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:38711348..38714655-chr19:38718716..38721513,3	MCF-7	breast:
2	chr19:38720504..38722100-chr19:38877148..38880133,2	K562	blood:
3	chr19:38718266..38721870-chr19:38794040..38798765,4	MCF-7	breast:
4	chr19:38705043..38707659-chr19:38719005..38721797,2	K562	blood:
5	chr19:38719348..38721458-chr19:38874867..38876458,2	K562	blood:
6	chr19:38713393..38715847-chr19:38720638..38723523,2	K562	blood:
7	chr19:38720592..38722293-chr19:38724613..38726835,2	MCF-7	breast:
8	chr19:38720868..38723162-chr19:38725359..38727589,2	K562	blood:

No data

Variant related genes	Relation type
DPF1	TF binding region
DPF1	CpG island
ENSG00000188766	Chromatin interaction
ENSG00000267090	Chromatin interaction
ENSG00000011332	Chromatin interaction
ENSG00000167644	Chromatin interaction
ENSG00000167645	Chromatin interaction
ENSG00000179168	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv833821	chr19:38629937-38756792	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv911657	chr19:38655449-38753786	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv3405182	chr19:38719137-38721685	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38718800-38721200	Active TSS	Brain Germinal Matrix	brain
2	chr19:38718800-38721200	Active TSS	Fetal Brain Female	brain
3	chr19:38720000-38724600	Weak transcription	Fetal Heart	heart
4	chr19:38720600-38740400	Weak transcription	Right Atrium	heart
5	chr19:38720800-38724600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr19:38721000-38721600	Enhancers	Fetal Brain Male	brain
7	chr19:38721000-38724600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr19:38721000-38734400	Weak transcription	Brain Cingulate Gyrus	brain

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