Variant report

Variant	rs9682449
Chromosome Location	chr3:52888351-52888352
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr3:52887793-52888592	H1-hESC	embryonic stem cell:	n/a	n/a
2	REST	chr3:52888075-52888521	GM12878	blood:	n/a	n/a
3	REST	chr3:52888020-52888588	SK-N-SH	brain:	n/a	n/a
4	TEAD4	chr3:52887997-52888481	A549	lung:	n/a	n/a
5	REST	chr3:52887888-52888513	PANC-1	pancreas:	n/a	n/a
6	REST	chr3:52888054-52888551	PFSK-1	brain:	n/a	n/a
7	REST	chr3:52887709-52888840	ECC-1	luminal epithelium:	n/a	n/a
8	REST	chr3:52888085-52888446	Hela-S3	cervix:	n/a	n/a
9	REST	chr3:52887999-52888424	HepG2	liver:	n/a	n/a
10	REST	chr3:52888037-52888581	K562	blood:	n/a	n/a
11	REST	chr3:52888016-52888602	PANC-1	pancreas:	n/a	n/a
12	REST	chr3:52888103-52888586	U87	brain:	n/a	n/a
13	REST	chr3:52888003-52888591	HCT-116	colon:	n/a	n/a
14	REST	chr3:52888101-52888586	U87	brain:	n/a	n/a
15	REST	chr3:52887923-52888541	A549	lung:	n/a	n/a
16	REST	chr3:52888004-52888457	HCT-116	colon:	n/a	n/a
17	REST	chr3:52888073-52888421	PANC-1	pancreas:	n/a	n/a
18	REST	chr3:52888032-52888553	PFSK-1	brain:	n/a	n/a
19	REST	chr3:52887979-52888480	H1-hESC	embryonic stem cell:	n/a	n/a
20	REST	chr3:52888000-52888536	Hela-S3	cervix:	n/a	n/a
21	REST	chr3:52888032-52888381	SK-N-SH	brain:	n/a	n/a
22	REST	chr3:52887732-52888782	ECC-1	luminal epithelium:	n/a	n/a
23	REST	chr3:52887711-52888702	HL-60	blood:	n/a	n/a
24	REST	chr3:52887985-52888517	MCF-7	breast:	n/a	n/a
25	REST	chr3:52888004-52888454	MCF-7	breast:	n/a	n/a
26	REST	chr3:52887970-52888585	HL-60	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:52888069..52891024-chr3:53081330..53083131,2	K562	blood:

No data

Variant related genes	Relation type
TMEM110	TF binding region

Extended variants
information (count: 130 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:127)

rs_ID	r²[population]
rs10049313	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1052728	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12486028	1.00[EUR][1000 genomes]
rs13066997	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17052421	1.00[EUR][1000 genomes]
rs1986738	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1986739	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1991567	1.00[EUR][1000 genomes]
rs2001733	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2001734	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2245536	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2246888	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2246889	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2256728	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2256734	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2276814	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2276819	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2276821	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2336155	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2336157	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2336158	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2336159	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2336161	1.00[EUR][1000 genomes]
rs2336546	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs2336556	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2336557	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2336559	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2535615	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2535616	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2535617	0.97[AFR][1000 genomes]
rs2535618	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2535619	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2535620	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2535621	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2535622	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2535623	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2535624	1.00[EUR][1000 genomes]
rs2535626	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2535628	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2535631	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2535632	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2535636	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2535637	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2535638	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2535639	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2535641	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2535642	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2535643	0.91[AMR][1000 genomes]
rs2535644	0.91[AMR][1000 genomes]
rs2535645	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2535646	1.00[EUR][1000 genomes]
rs2564925	1.00[EUR][1000 genomes]
rs2564927	1.00[EUR][1000 genomes]
rs2564946	1.00[EUR][1000 genomes]
rs2581814	1.00[EUR][1000 genomes]
rs2590840	1.00[EUR][1000 genomes]
rs2710315	1.00[EUR][1000 genomes]
rs2710316	1.00[EUR][1000 genomes]
rs2710318	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2710319	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2710320	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2710321	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2710324	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2710325	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2710327	1.00[EUR][1000 genomes]
rs2710328	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2710329	1.00[EUR][1000 genomes]
rs2710336	1.00[EUR][1000 genomes]
rs2710340	1.00[EUR][1000 genomes]
rs2710343	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2710344	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2878633	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2878634	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2878635	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2878636	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3774361	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4234636	1.00[EUR][1000 genomes]
rs4234637	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4687555	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4687557	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4687659	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4687661	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4687665	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4687666	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4687667	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4687668	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4687669	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4687670	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4687671	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4687674	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4687675	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4687685	1.00[EUR][1000 genomes]
rs4687690	1.00[EUR][1000 genomes]
rs57430179	1.00[EUR][1000 genomes]
rs59094265	1.00[EUR][1000 genomes]
rs61274383	1.00[EUR][1000 genomes]
rs61641433	1.00[EUR][1000 genomes]
rs6445537	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6445540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6445542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6445548	1.00[EUR][1000 genomes]
rs6774869	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6776862	1.00[EUR][1000 genomes]
rs6776990	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6787916	1.00[EUR][1000 genomes]
rs6791937	1.00[AMR][1000 genomes]
rs6794706	1.00[EUR][1000 genomes]
rs6795138	1.00[EUR][1000 genomes]
rs6797070	1.00[EUR][1000 genomes]
rs72961745	1.00[EUR][1000 genomes]
rs72961755	1.00[EUR][1000 genomes]
rs7623667	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7629350	1.00[EUR][1000 genomes]
rs7629528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7637212	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7638431	0.95[AFR][1000 genomes]
rs7645169	0.97[AFR][1000 genomes]
rs7647534	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7649515	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7650966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7652175	1.00[EUR][1000 genomes]
rs7652476	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9681089	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9682819	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9815408	1.00[EUR][1000 genomes]
rs9846827	1.00[EUR][1000 genomes]
rs9877711	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834698	chr3:52749983-52928219	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
2	esv2762328	chr3:52774884-53002150	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3446915	chr3:52786850-53049217	Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52854800-52888400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:52870000-52901000	Weak transcription	Fetal Brain Male	brain
3	chr3:52873400-52891600	Strong transcription	Primary T cells from cord blood	blood
4	chr3:52873400-52892000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr3:52873600-52889000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr3:52873800-52889000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr3:52873800-52891400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr3:52879600-52889800	Weak transcription	K562	blood
9	chr3:52879800-52894800	Weak transcription	HSMM	muscle
10	chr3:52880200-52890200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr3:52880400-52890000	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr3:52880600-52891000	Weak transcription	Fetal Heart	heart
13	chr3:52880800-52889800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr3:52880800-52890000	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr3:52881000-52889200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr3:52881200-52889000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr3:52881200-52889000	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr3:52881200-52889200	Strong transcription	Liver	Liver
19	chr3:52881200-52889200	Strong transcription	Brain Inferior Temporal Lobe	brain
20	chr3:52881200-52890000	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr3:52881200-52890200	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr3:52881200-52890200	Strong transcription	Adipose Nuclei	Adipose
23	chr3:52881400-52888600	Strong transcription	Brain Anterior Caudate	brain
24	chr3:52881800-52890000	Strong transcription	Thymus	Thymus
25	chr3:52882200-52888800	Strong transcription	Fetal Stomach	stomach
26	chr3:52883200-52889800	Weak transcription	Osteobl	bone
27	chr3:52883400-52889200	Strong transcription	Fetal Muscle Leg	muscle
28	chr3:52883400-52894200	Weak transcription	HSMMtube	muscle
29	chr3:52883400-52894600	Weak transcription	Hela-S3	cervix
30	chr3:52883600-52888400	Strong transcription	Stomach Smooth Muscle	stomach
31	chr3:52883600-52889200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr3:52883800-52894400	Weak transcription	Psoas Muscle	Psoas
33	chr3:52884000-52898200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr3:52884000-52907400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr3:52884200-52893000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr3:52884400-52893000	Weak transcription	Small Intestine	intestine
37	chr3:52884600-52888800	Strong transcription	Aorta	Aorta
38	chr3:52885000-52888400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr3:52885400-52890000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr3:52885400-52899600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr3:52885600-52890000	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr3:52885800-52888400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr3:52885800-52888800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
44	chr3:52886000-52891000	Strong transcription	Fetal Thymus	thymus
45	chr3:52886200-52907800	Weak transcription	NHLF	lung
46	chr3:52886400-52888800	Weak transcription	Primary hematopoietic stem cells	blood
47	chr3:52886400-52889400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr3:52886400-52894200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr3:52886600-52888400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr3:52886600-52888400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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