Variant report

Variant	rs13326300
Chromosome Location	chr3:49905300-49905301
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	REST	chr3:49905203-49905740	K562	blood:	n/a	chr3:49905532-49905541 chr3:49905384-49905393 chr3:49905476-49905484 chr3:49905379-49905399 chr3:49905370-49905383 chr3:49905379-49905399
2	REST	chr3:49904906-49906017	PFSK-1	brain:	n/a	chr3:49905532-49905541 chr3:49905384-49905393 chr3:49905476-49905484 chr3:49905379-49905399 chr3:49905370-49905383 chr3:49905379-49905399
3	REST	chr3:49904853-49906114	PANC-1	pancreas:	n/a	chr3:49905532-49905541 chr3:49905384-49905393 chr3:49905476-49905484 chr3:49905379-49905399 chr3:49905370-49905383 chr3:49905379-49905399
4	REST	chr3:49904981-49906002	HCT-116	colon:	n/a	chr3:49905532-49905541 chr3:49905384-49905393 chr3:49905476-49905484 chr3:49905379-49905399 chr3:49905370-49905383 chr3:49905379-49905399
5	ZNF143	chr3:49905199-49905624	H1-hESC	embryonic stem cell:	n/a	n/a
6	REST	chr3:49904244-49907405	HL-60	blood:	n/a	chr3:49905532-49905541 chr3:49905384-49905393 chr3:49905476-49905484 chr3:49906746-49906759 chr3:49906475-49906493 chr3:49905379-49905399 chr3:49905370-49905383 chr3:49906477-49906490 chr3:49905379-49905399
7	REST	chr3:49904984-49905795	A549	lung:	n/a	chr3:49905532-49905541 chr3:49905384-49905393 chr3:49905476-49905484 chr3:49905379-49905399 chr3:49905370-49905383 chr3:49905379-49905399
8	YY1	chr3:49905281-49905408	K562	blood:	n/a	n/a
9	MAX	chr3:49905254-49905508	NB4	blood:	n/a	n/a
10	RCOR1	chr3:49905270-49905565	K562	blood:	n/a	n/a
11	REST	chr3:49904942-49905922	MCF-7	breast:	n/a	chr3:49905532-49905541 chr3:49905384-49905393 chr3:49905476-49905484 chr3:49905379-49905399 chr3:49905370-49905383 chr3:49905379-49905399
12	CBX3	chr3:49905221-49905514	K562	blood:	n/a	n/a
13	REST	chr3:49905180-49905615	GM12878	blood:	n/a	chr3:49905532-49905541 chr3:49905384-49905393 chr3:49905476-49905484 chr3:49905379-49905399 chr3:49905370-49905383 chr3:49905379-49905399
14	REST	chr3:49905089-49905849	H1-hESC	embryonic stem cell:	n/a	chr3:49905532-49905541 chr3:49905384-49905393 chr3:49905476-49905484 chr3:49905379-49905399 chr3:49905370-49905383 chr3:49905379-49905399
15	RCOR1	chr3:49905117-49905673	IMR90	lung:	n/a	n/a
16	JUN	chr3:49905198-49905491	H1-hESC	embryonic stem cell:	n/a	n/a
17	REST	chr3:49905046-49905794	HepG2	liver:	n/a	chr3:49905532-49905541 chr3:49905384-49905393 chr3:49905476-49905484 chr3:49905379-49905399 chr3:49905370-49905383 chr3:49905379-49905399
18	TEAD4	chr3:49905202-49905475	H1-hESC	embryonic stem cell:	n/a	n/a
19	REST	chr3:49904978-49905846	H1-hESC	embryonic stem cell:	n/a	chr3:49905532-49905541 chr3:49905384-49905393 chr3:49905476-49905484 chr3:49905379-49905399 chr3:49905370-49905383 chr3:49905379-49905399
20	REST	chr3:49904753-49906312	ECC-1	luminal epithelium:	n/a	chr3:49905532-49905541 chr3:49905384-49905393 chr3:49905476-49905484 chr3:49905379-49905399 chr3:49905370-49905383 chr3:49905379-49905399
21	REST	chr3:49905176-49905725	GM12878	blood:	n/a	chr3:49905532-49905541 chr3:49905384-49905393 chr3:49905476-49905484 chr3:49905379-49905399 chr3:49905370-49905383 chr3:49905379-49905399
22	MAX	chr3:49905262-49905498	K562	blood:	n/a	n/a
23	REST	chr3:49905210-49905474	GM12878	blood:	n/a	chr3:49905384-49905393 chr3:49905379-49905399 chr3:49905370-49905383 chr3:49905379-49905399
24	TEAD4	chr3:49905144-49905681	A549	lung:	n/a	n/a
25	REST	chr3:49904916-49906123	HL-60	blood:	n/a	chr3:49905532-49905541 chr3:49905384-49905393 chr3:49905476-49905484 chr3:49905379-49905399 chr3:49905370-49905383 chr3:49905379-49905399
26	SIN3AK20	chr3:49905168-49905623	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAX	chr3:49905196-49905581	ECC-1	luminal epithelium:	n/a	n/a
28	REST	chr3:49904944-49906253	SK-N-SH	brain:	n/a	chr3:49905532-49905541 chr3:49905384-49905393 chr3:49905476-49905484 chr3:49905379-49905399 chr3:49905370-49905383 chr3:49905379-49905399
29	REST	chr3:49904729-49906782	ECC-1	luminal epithelium:	n/a	chr3:49905532-49905541 chr3:49905384-49905393 chr3:49905476-49905484 chr3:49906746-49906759 chr3:49906475-49906493 chr3:49905379-49905399 chr3:49905370-49905383 chr3:49906477-49906490 chr3:49905379-49905399
30	REST	chr3:49904772-49905791	H1-neurons	neurons:	n/a	chr3:49905532-49905541 chr3:49905384-49905393 chr3:49905476-49905484 chr3:49905379-49905399 chr3:49905370-49905383 chr3:49905379-49905399
31	REST	chr3:49905184-49905580	PFSK-1	brain:	n/a	chr3:49905532-49905541 chr3:49905384-49905393 chr3:49905476-49905484 chr3:49905379-49905399 chr3:49905370-49905383 chr3:49905379-49905399
32	REST	chr3:49905268-49905594	PANC-1	pancreas:	n/a	chr3:49905532-49905541 chr3:49905384-49905393 chr3:49905476-49905484 chr3:49905379-49905399 chr3:49905370-49905383 chr3:49905379-49905399
33	REST	chr3:49905162-49905562	U87	brain:	n/a	chr3:49905532-49905541 chr3:49905384-49905393 chr3:49905476-49905484 chr3:49905379-49905399 chr3:49905370-49905383 chr3:49905379-49905399
34	REST	chr3:49905034-49906035	U87	brain:	n/a	chr3:49905532-49905541 chr3:49905384-49905393 chr3:49905476-49905484 chr3:49905379-49905399 chr3:49905370-49905383 chr3:49905379-49905399
35	REST	chr3:49905040-49905918	Hela-S3	cervix:	n/a	chr3:49905532-49905541 chr3:49905384-49905393 chr3:49905476-49905484 chr3:49905379-49905399 chr3:49905370-49905383 chr3:49905379-49905399
36	ZNF143	chr3:49905225-49905533	GM12878	blood:	n/a	n/a
37	REST	chr3:49904953-49905951	PANC-1	pancreas:	n/a	chr3:49905532-49905541 chr3:49905384-49905393 chr3:49905476-49905484 chr3:49905379-49905399 chr3:49905370-49905383 chr3:49905379-49905399
38	REST	chr3:49905058-49905791	HCT-116	colon:	n/a	chr3:49905532-49905541 chr3:49905384-49905393 chr3:49905476-49905484 chr3:49905379-49905399 chr3:49905370-49905383 chr3:49905379-49905399
39	SIN3A	chr3:49905141-49905724	H1-hESC	embryonic stem cell:	n/a	chr3:49905383-49905393 chr3:49905384-49905398
40	REST	chr3:49905164-49905707	PFSK-1	brain:	n/a	chr3:49905532-49905541 chr3:49905384-49905393 chr3:49905476-49905484 chr3:49905379-49905399 chr3:49905370-49905383 chr3:49905379-49905399
41	REST	chr3:49904954-49905949	Hela-S3	cervix:	n/a	chr3:49905532-49905541 chr3:49905384-49905393 chr3:49905476-49905484 chr3:49905379-49905399 chr3:49905370-49905383 chr3:49905379-49905399
42	SIN3AK20	chr3:49905256-49905530	H1-hESC	embryonic stem cell:	n/a	n/a
43	REST	chr3:49905191-49905647	HepG2	liver:	n/a	chr3:49905532-49905541 chr3:49905384-49905393 chr3:49905476-49905484 chr3:49905379-49905399 chr3:49905370-49905383 chr3:49905379-49905399
44	REST	chr3:49904899-49906008	PANC-1	pancreas:	n/a	chr3:49905532-49905541 chr3:49905384-49905393 chr3:49905476-49905484 chr3:49905379-49905399 chr3:49905370-49905383 chr3:49905379-49905399
45	REST	chr3:49904980-49905835	MCF-7	breast:	n/a	chr3:49905532-49905541 chr3:49905384-49905393 chr3:49905476-49905484 chr3:49905379-49905399 chr3:49905370-49905383 chr3:49905379-49905399
46	REST	chr3:49904804-49906278	A549	lung:	n/a	chr3:49905532-49905541 chr3:49905384-49905393 chr3:49905476-49905484 chr3:49905379-49905399 chr3:49905370-49905383 chr3:49905379-49905399
47	REST	chr3:49905155-49905835	HepG2	liver:	n/a	chr3:49905532-49905541 chr3:49905384-49905393 chr3:49905476-49905484 chr3:49905379-49905399 chr3:49905370-49905383 chr3:49905379-49905399
48	REST	chr3:49905033-49906007	PFSK-1	brain:	n/a	chr3:49905532-49905541 chr3:49905384-49905393 chr3:49905476-49905484 chr3:49905379-49905399 chr3:49905370-49905383 chr3:49905379-49905399
49	REST	chr3:49905137-49905901	K562	blood:	n/a	chr3:49905532-49905541 chr3:49905384-49905393 chr3:49905476-49905484 chr3:49905379-49905399 chr3:49905370-49905383 chr3:49905379-49905399
50	REST	chr3:49905284-49905517	SK-N-SH	brain:	n/a	chr3:49905384-49905393 chr3:49905476-49905484 chr3:49905379-49905399 chr3:49905370-49905383 chr3:49905379-49905399

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:49904537..49906285-chr3:49936889..49938764,2	K562	blood:

Variant related genes	Relation type
RN7SL217P	TF binding region

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs11130223	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11130225	0.88[EUR][1000 genomes]
rs11130230	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs11130237	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs11130239	0.92[EUR][1000 genomes]
rs11130240	0.87[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs11916261	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs11916999	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs11920034	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs11923132	0.92[EUR][1000 genomes]
rs11924670	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs11924711	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs11925156	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12486470	0.88[EUR][1000 genomes]
rs12486808	0.96[EUR][1000 genomes]
rs12486832	0.96[EUR][1000 genomes]
rs12489386	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12490944	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs12492291	0.84[EUR][1000 genomes]
rs12493565	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12494077	0.84[EUR][1000 genomes]
rs12494172	0.84[EUR][1000 genomes]
rs12494916	0.84[EUR][1000 genomes]
rs12495114	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs12495831	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12629129	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs12629553	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs12629677	0.96[EUR][1000 genomes]
rs12630917	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12630959	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12631248	1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs12631306	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs12631309	0.92[EUR][1000 genomes]
rs12631608	0.92[EUR][1000 genomes]
rs12632751	0.84[EUR][1000 genomes]
rs12636045	0.87[AMR][1000 genomes]
rs12636669	0.92[EUR][1000 genomes]
rs12637222	0.92[EUR][1000 genomes]
rs12637457	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs12637681	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12638046	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1317215	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2023951	0.84[EUR][1000 genomes]
rs2023952	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs28478136	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35333166	0.87[AMR][1000 genomes]
rs41291716	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55643042	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57009357	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57575459	0.96[EUR][1000 genomes]
rs58025924	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58621288	0.92[EUR][1000 genomes]
rs58766761	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59802870	0.85[EUR][1000 genomes]
rs61263937	0.82[EUR][1000 genomes]
rs61491513	0.92[EUR][1000 genomes]
rs61729114	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62260717	0.88[EUR][1000 genomes]
rs62260756	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62262060	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62262095	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62262096	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62262099	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62262100	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62262104	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62262105	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62262116	0.92[EUR][1000 genomes]
rs62262117	0.92[EUR][1000 genomes]
rs62262138	0.92[EUR][1000 genomes]
rs62262144	0.92[EUR][1000 genomes]
rs62262145	0.92[EUR][1000 genomes]
rs62262148	0.96[EUR][1000 genomes]
rs62263578	0.96[EUR][1000 genomes]
rs62263580	0.88[EUR][1000 genomes]
rs62263584	0.88[EUR][1000 genomes]
rs62263586	0.84[EUR][1000 genomes]
rs62263588	0.84[EUR][1000 genomes]
rs62263590	0.84[EUR][1000 genomes]
rs62263591	0.84[EUR][1000 genomes]
rs62263597	0.82[AMR][1000 genomes]
rs62263600	0.87[AMR][1000 genomes]
rs6797500	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9813644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9859813	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	esv1796352	chr3:49687101-49949959	Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv834688	chr3:49811115-50019299	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv1809827	chr3:49812331-49934179	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer 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	30 gene(s)	inside rSNPs	diseases
4	nsv876766	chr3:49817450-49961780	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49894600-49906400	Weak transcription	Right Atrium	heart
2	chr3:49899800-49905400	Weak transcription	Fetal Intestine Small	intestine
3	chr3:49901600-49906000	Enhancers	H1 Cell Line	embryonic stem cell
4	chr3:49901600-49906400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:49902200-49905400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:49902400-49905400	Active TSS	Brain Anterior Caudate	brain
7	chr3:49902600-49905800	Flanking Active TSS	Fetal Brain Female	brain
8	chr3:49903200-49906200	Weak transcription	Gastric	stomach
9	chr3:49903600-49906000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr3:49903800-49905800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:49904200-49905400	Enhancers	H9 Cell Line	embryonic stem cell
12	chr3:49904200-49906400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:49904400-49905400	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr3:49904600-49905400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr3:49904600-49905800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr3:49904600-49905800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr3:49904800-49905400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr3:49904800-49905400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr3:49904800-49905400	Active TSS	Brain Angular Gyrus	brain
20	chr3:49904800-49906200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr3:49904800-49906400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr3:49904800-49906400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr3:49904800-49906800	Flanking Active TSS	Brain Germinal Matrix	brain
24	chr3:49905000-49906400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr3:49905000-49906800	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr3:49905200-49905800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr3:49905200-49906000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
28	chr3:49905200-49906400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr3:49905200-49906600	Flanking Active TSS	Fetal Brain Male	brain
30	chr3:49905200-49906800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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