Variant report

Variant	rs1286625
Chromosome Location	chr1:62188432-62188433
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:62172803..62176394-chr1:62188013..62191041,5	K562	blood:
2	chr1:62187297..62188937-chr1:62189141..62190803,4	K562	blood:
3	chr1:62185990..62188918-chr1:62189319..62190870,2	MCF-7	breast:
4	chr1:62187463..62192137-chr1:62206143..62210486,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271200	Chromatin interaction
ENSG00000162604	Chromatin interaction
ENSG00000132849	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11207807	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11207808	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1151756	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1151757	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1151759	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1151762	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1151769	0.81[AFR][1000 genomes]
rs1151770	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151771	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151773	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151775	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1151776	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12117475	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12124430	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12130241	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12130439	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12134102	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12134205	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12134428	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12137410	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141280	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12141298	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12144284	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1286624	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1286626	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1286628	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1286629	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1286630	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1286634	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1611797	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1620169	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1692131	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1692132	0.82[EUR][1000 genomes]
rs17378384	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1779267	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2051135	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2051136	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2799626	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4443919	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6662941	0.93[ASN][1000 genomes]
rs6666057	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6691402	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6697770	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6698656	0.93[ASN][1000 genomes]
rs72672375	0.82[EUR][1000 genomes]
rs72672390	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72674608	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7536565	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7538825	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7539026	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7550631	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv994970	chr1:61693951-62199657	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62138800-62189600	Weak transcription	Psoas Muscle	Psoas
2	chr1:62140000-62189000	Weak transcription	NHLF	lung
3	chr1:62142800-62188600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:62146200-62190200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:62158600-62189800	Weak transcription	Pancreas	Pancrea
6	chr1:62165000-62189800	Weak transcription	Aorta	Aorta
7	chr1:62165400-62189400	Weak transcription	Fetal Brain Male	brain
8	chr1:62165400-62189600	Weak transcription	Right Ventricle	heart
9	chr1:62165400-62189800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:62166400-62189400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr1:62166600-62189400	Weak transcription	A549	lung
12	chr1:62166800-62189400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:62172000-62189400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:62172000-62189800	Weak transcription	Gastric	stomach
15	chr1:62173200-62189600	Weak transcription	Colonic Mucosa	Colon
16	chr1:62174000-62189600	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:62174200-62189000	Weak transcription	Colon Smooth Muscle	Colon
18	chr1:62174400-62188800	Weak transcription	Brain Germinal Matrix	brain
19	chr1:62174400-62189800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:62174400-62189800	Weak transcription	Esophagus	oesophagus
21	chr1:62174600-62189200	Weak transcription	HepG2	liver
22	chr1:62174600-62190200	Weak transcription	Small Intestine	intestine
23	chr1:62174800-62189200	Weak transcription	Fetal Brain Female	brain
24	chr1:62174800-62189400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr1:62174800-62189600	Weak transcription	Primary B cells from cord blood	blood
26	chr1:62174800-62189600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:62174800-62189600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr1:62174800-62189600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr1:62174800-62189600	Weak transcription	Left Ventricle	heart
30	chr1:62174800-62189600	Weak transcription	Osteobl	bone
31	chr1:62174800-62189800	Weak transcription	Lung	lung
32	chr1:62174800-62189800	Weak transcription	HSMMtube	muscle
33	chr1:62174800-62190000	Weak transcription	Ovary	ovary
34	chr1:62174800-62190400	Weak transcription	Spleen	Spleen
35	chr1:62175000-62188800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:62175000-62189200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr1:62175000-62189400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr1:62175000-62189400	Weak transcription	Fetal Kidney	kidney
39	chr1:62175000-62189600	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr1:62175000-62189800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:62175000-62189800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr1:62175200-62188600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr1:62175200-62189200	Weak transcription	HMEC	breast
44	chr1:62175200-62189400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr1:62175200-62189400	Weak transcription	Adipose Nuclei	Adipose
46	chr1:62175200-62189400	Weak transcription	Hela-S3	cervix
47	chr1:62175200-62189600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr1:62175200-62189800	Weak transcription	Stomach Mucosa	stomach
49	chr1:62175200-62190000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr1:62175400-62188600	Weak transcription	NH-A	brain

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