Variant report

Variant	rs2710325
Chromosome Location	chr3:52859514-52859515
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:52834279..52837211-chr3:52858122..52860407,2	K562	blood:

Variant related genes	Relation type
ENSG00000162267	Chromatin interaction

Extended variants
information (count: 138 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:130)

rs_ID	r²[population]
rs10049313	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1052728	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12637566	0.90[ASN][1000 genomes]
rs13066997	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17052326	1.00[EUR][1000 genomes]
rs17052421	1.00[EUR][1000 genomes]
rs1986738	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1986739	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2001733	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2001734	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2245536	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2246888	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2246889	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2256728	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2256734	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2276814	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2276819	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2276820	0.90[ASN][1000 genomes]
rs2276821	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2336155	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2336157	1.00[EUR][1000 genomes]
rs2336158	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2336159	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2336161	1.00[EUR][1000 genomes]
rs2336546	0.90[AFR][1000 genomes]
rs2336556	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2336557	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2336559	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2535615	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2535616	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2535617	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2535618	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2535619	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2535620	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2535621	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2535622	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2535623	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2535624	1.00[EUR][1000 genomes]
rs2535626	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2535628	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2535631	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2535632	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2535636	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2535637	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2535638	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2535639	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2535641	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2535642	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2535643	0.90[ASN][1000 genomes]
rs2535645	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2535646	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2564946	1.00[EUR][1000 genomes]
rs2577828	1.00[EUR][1000 genomes]
rs2577829	1.00[EUR][1000 genomes]
rs2577830	1.00[EUR][1000 genomes]
rs2581814	1.00[EUR][1000 genomes]
rs2590840	1.00[EUR][1000 genomes]
rs2590841	1.00[EUR][1000 genomes]
rs2710315	1.00[EUR][1000 genomes]
rs2710316	1.00[EUR][1000 genomes]
rs2710318	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2710319	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2710320	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2710321	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2710324	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2710327	1.00[EUR][1000 genomes]
rs2710328	0.88[AFR][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]
rs2710341	0.90[ASN][1000 genomes]
rs2710343	1.00[EUR][1000 genomes]
rs2710344	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2878633	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2878634	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2878635	1.00[EUR][1000 genomes]
rs2878636	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3774361	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4234635	1.00[EUR][1000 genomes]
rs4234636	1.00[EUR][1000 genomes]
rs4234637	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4687555	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4687557	1.00[EUR][1000 genomes]
rs4687659	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4687661	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4687665	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4687666	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4687667	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4687668	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4687669	1.00[EUR][1000 genomes]
rs4687670	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4687671	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4687674	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4687675	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][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	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6445540	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6445542	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6445548	1.00[EUR][1000 genomes]
rs6774869	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6776862	1.00[EUR][1000 genomes]
rs6776990	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6787916	1.00[EUR][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	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7629350	1.00[EUR][1000 genomes]
rs7629528	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7637212	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7638431	0.92[AFR][1000 genomes]
rs7645169	0.93[AFR][1000 genomes]
rs7647534	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7649515	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7650966	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7652175	1.00[EUR][1000 genomes]
rs7652476	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9681089	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9682449	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9682819	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9815408	1.00[EUR][1000 genomes]
rs9846827	1.00[EUR][1000 genomes]
rs9877711	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv984563	chr3:52516115-52867075	Weak transcription Strong transcription Enhancers Active TSS Flanking 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 target site	63 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	esv1810629	chr3:52817031-52869635	Weak transcription Active TSS Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv876797	chr3:52817675-52873984	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv590308	chr3:52854335-52860806	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv876798	chr3:52856609-52863133	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52846400-52860800	Weak transcription	Esophagus	oesophagus
2	chr3:52847200-52861200	Genic enhancers	Liver	Liver
3	chr3:52847600-52865000	Weak transcription	Psoas Muscle	Psoas
4	chr3:52848400-52865800	Weak transcription	Ovary	ovary
5	chr3:52850200-52868400	Weak transcription	Colonic Mucosa	Colon
6	chr3:52850600-52864200	Strong transcription	Stomach Smooth Muscle	stomach
7	chr3:52850800-52865400	Strong transcription	Fetal Stomach	stomach
8	chr3:52851600-52863400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr3:52852200-52869200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr3:52852800-52869200	Weak transcription	Primary B cells from cord blood	blood
11	chr3:52853000-52868000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr3:52853400-52861200	Strong transcription	Fetal Muscle Leg	muscle
13	chr3:52854000-52861200	Strong transcription	Pancreas	Pancrea
14	chr3:52854200-52874200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr3:52854400-52861600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:52854800-52869200	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr3:52854800-52888400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:52855000-52861600	Strong transcription	Skeletal Muscle Female	skeletal muscle
19	chr3:52855200-52860800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:52855200-52865400	Weak transcription	Brain Substantia Nigra	brain
21	chr3:52855600-52862000	Strong transcription	Skeletal Muscle Male	skeletal muscle
22	chr3:52855600-52865400	Weak transcription	Colon Smooth Muscle	Colon
23	chr3:52856000-52865400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr3:52856000-52875000	Weak transcription	Fetal Intestine Large	intestine
25	chr3:52856200-52865600	Weak transcription	Left Ventricle	heart
26	chr3:52856400-52868200	Weak transcription	Fetal Lung	lung
27	chr3:52856600-52860400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr3:52856600-52861000	Strong transcription	Fetal Muscle Trunk	muscle
29	chr3:52856600-52861200	Strong transcription	Primary T cells from cord blood	blood
30	chr3:52856600-52864400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:52856800-52863400	Strong transcription	Fetal Thymus	thymus
32	chr3:52857000-52861000	Weak transcription	HepG2	liver
33	chr3:52857000-52868600	Weak transcription	Primary B cells from peripheral blood	blood
34	chr3:52857800-52865400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr3:52858000-52867800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr3:52858000-52868400	Weak transcription	Brain Germinal Matrix	brain
37	chr3:52858200-52865400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr3:52858400-52861400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr3:52858400-52865400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr3:52858400-52865400	Weak transcription	Brain Angular Gyrus	brain
41	chr3:52858400-52866800	Weak transcription	Fetal Brain Female	brain
42	chr3:52858400-52867200	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr3:52858400-52867600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr3:52858600-52861000	Weak transcription	Spleen	Spleen
45	chr3:52858600-52861800	Weak transcription	Gastric	stomach
46	chr3:52858600-52864600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr3:52858600-52864800	Weak transcription	Right Ventricle	heart
48	chr3:52858600-52865600	Weak transcription	Brain Hippocampus Middle	brain
49	chr3:52858600-52866800	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr3:52858600-52867000	Weak transcription	Primary monocytes fromperipheralblood	blood

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