Variant report

Variant	rs550929819
Chromosome Location	chr2:98858595-98858596
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr2:98858089-98859033	H1-neurons	neurons:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:98858571-98858621	RPTEC	kidney:	n/a
2	chr2:98858595-98858645	AG10803	skin:	n/a
3	chr2:98858571-98858621	NT2-D1	testis:	n/a
4	chr2:98858571-98858621	HMEC	breast:	n/a
5	chr2:98858571-98858621	HCT-116	colon:	n/a
6	chr2:98858595-98858645	SK-N-SH_RA	brain:	n/a
7	chr2:98858595-98858645	HPAEpiC	pulmonary alveolar:	n/a
8	chr2:98858571-98858621	SK-N-SH	brain:	n/a
9	chr2:98858571-98858621	T-47D	breast:	n/a
10	chr2:98858571-98858621	MCF10A-Er-Src	breast:	n/a
11	chr2:98858595-98858645	HEEpiC	esophagus:	n/a
12	chr2:98858595-98858645	GM12891	blood:	n/a
13	chr2:98858595-98858645	Jurkat	blood:	n/a
14	chr2:98858595-98858645	GM19239	blood:	n/a
15	chr2:98858571-98858621	HRCEpiC	kidney:	n/a
16	chr2:98858595-98858645	CMK	blood:	n/a
17	chr2:98858571-98858621	AoSMC	blood vessel:	n/a
18	chr2:98858571-98858621	SAEC	small airway:	n/a
19	chr2:98858571-98858621	AG09309	skin:	n/a
20	chr2:98858571-98858621	NH-A	brain:	n/a
21	chr2:98858571-98858621	GM19239	blood:	n/a
22	chr2:98858571-98858621	NHBE	bronchial:	n/a
23	chr2:98858571-98858621	IMR90	lung:	fetal
24	chr2:98858571-98858621	K562	blood:	n/a
25	chr2:98858595-98858645	HIPEpiC	eye:	n/a
26	chr2:98858571-98858621	PFSK-1	brain:	n/a
27	chr2:98858595-98858645	RPTEC	kidney:	n/a
28	chr2:98858595-98858645	NHBE	bronchial:	n/a
29	chr2:98858571-98858621	HRPEpiC	eye:	n/a
30	chr2:98858595-98858645	HCPEpiC	choroid plexus:	n/a
31	chr2:98858595-98858645	AoSMC	blood vessel:	n/a
32	chr2:98858595-98858645	U87	brain:	n/a
33	chr2:98858595-98858645	MCF10A-Er-Src	breast:	n/a
34	chr2:98858595-98858645	NT2-D1	testis:	n/a
35	chr2:98858595-98858645	A549	lung:	n/a
36	chr2:98858595-98858645	NHDF-neo	bronchial:	n/a
37	chr2:98858595-98858645	HCT-116	colon:	n/a
38	chr2:98858595-98858645	SAEC	small airway:	n/a
39	chr2:98858595-98858645	PFSK-1	brain:	n/a
40	chr2:98858595-98858645	SK-N-SH	brain:	n/a
41	chr2:98858595-98858645	HAEpiC	amniotic membrane:	n/a
42	chr2:98858595-98858645	GM12878	blood:	n/a
43	chr2:98858571-98858621	NHDF-neo	bronchial:	n/a
44	chr2:98858595-98858645	LNCaP	prostate:	n/a
45	chr2:98858571-98858621	HIPEpiC	eye:	n/a
46	chr2:98858595-98858645	H1-hESC	embryonic stem cell:	embryo
47	chr2:98858595-98858645	SK-N-MC	brain:	n/a
48	chr2:98858571-98858621	PrEC	prostate:	n/a
49	chr2:98858595-98858645	GM06990	blood:	n/a
50	chr2:98858595-98858645	HRCEpiC	kidney:	n/a

No data

Variant related genes	Relation type
VWA3B	TF binding region
VWA3B	CpG island

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv518056	chr2:98586842-99156296	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1004082	chr2:98792256-98967681	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv535833	chr2:98792256-98967681	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv582513	chr2:98829237-98869914	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv582514	chr2:98835962-98869914	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1014147	chr2:98855007-98878044	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv818075	chr2:98855497-98872039	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv582515	chr2:98855497-98885925	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv517669	chr2:98855497-98889961	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv437289	chr2:98855497-98891519	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv3459702	chr2:98856083-98886708	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	esv3459703	chr2:98856205-98886602	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	esv19987	chr2:98856422-98886491	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	nsv1010376	chr2:98858308-98878044	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv1008771	chr2:98858308-98881340	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	esv2760564	chr2:98858308-98881352	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv1012433	chr2:98858308-98888391	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	nsv1012121	chr2:98858308-98889961	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98856800-98859200	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr2:98857400-98859400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:98857400-98859400	Enhancers	Brain Germinal Matrix	brain
4	chr2:98857400-98859600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:98857600-98858600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:98857600-98859200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:98857800-98858800	Enhancers	Fetal Brain Male	brain
8	chr2:98858000-98858800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:98858200-98858800	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr2:98858400-98858800	Active TSS	Brain Anterior Caudate	brain
11	chr2:98858400-98858800	Active TSS	Brain Cingulate Gyrus	brain
12	chr2:98858400-98858800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:98858400-98859000	Active TSS	Brain Angular Gyrus	brain
14	chr2:98858400-98859000	Active TSS	Brain Hippocampus Middle	brain
15	chr2:98858400-98859000	Active TSS	Brain Substantia Nigra	brain

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