Variant report

Variant	rs1286624
Chromosome Location	chr1:62175941-62175942
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:62173080..62176930-chr1:62205875..62209587,4	MCF-7	breast:
2	chr1:62173473..62177807-chr1:62188633..62191997,6	K562	blood:
3	chr1:62172803..62176394-chr1:62188013..62191041,5	K562	blood:

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

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11207807	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11207808	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1151756	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1151757	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1151759	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1151762	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1151770	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151771	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151773	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151775	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1151776	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12117475	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12120264	0.80[AFR][1000 genomes]
rs12124430	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12130241	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12130439	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12134102	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12134205	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12134428	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12137410	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141280	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12141298	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12144284	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1286625	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1286626	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1286628	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1286629	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1286630	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1286634	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1611797	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1620169	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1692131	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17378384	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1779267	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2051135	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2051136	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2799626	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4443919	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6662941	0.93[ASN][1000 genomes]
rs6666057	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6691402	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6697770	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6698656	0.93[ASN][1000 genomes]
rs72672375	0.80[EUR][1000 genomes]
rs72672390	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72674608	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7536565	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7538825	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7539026	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7550631	0.89[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:120 , 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	chr1:62161200-62180600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:62161800-62179200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:62162600-62177400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:62163400-62181800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:62165000-62189800	Weak transcription	Aorta	Aorta
11	chr1:62165400-62189400	Weak transcription	Fetal Brain Male	brain
12	chr1:62165400-62189600	Weak transcription	Right Ventricle	heart
13	chr1:62165400-62189800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:62166400-62176600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:62166400-62176600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr1:62166400-62189400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr1:62166600-62187400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:62166600-62189400	Weak transcription	A549	lung
19	chr1:62166800-62178000	Weak transcription	Brain Angular Gyrus	brain
20	chr1:62166800-62189400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr1:62167600-62177200	Weak transcription	Brain Substantia Nigra	brain
22	chr1:62168400-62177600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr1:62169000-62176000	Strong transcription	Fetal Muscle Trunk	muscle
24	chr1:62169600-62177400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr1:62169600-62179400	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr1:62169600-62179600	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr1:62169600-62181200	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr1:62169800-62176000	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr1:62170000-62179200	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr1:62170400-62176000	Strong transcription	Primary T cells from cord blood	blood
31	chr1:62170600-62176000	Strong transcription	Dnd41	blood
32	chr1:62170600-62176200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:62171600-62188400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr1:62172000-62189400	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr1:62172000-62189800	Weak transcription	Gastric	stomach
36	chr1:62173000-62184000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr1:62173200-62189600	Weak transcription	Colonic Mucosa	Colon
38	chr1:62174000-62189600	Weak transcription	Brain Hippocampus Middle	brain
39	chr1:62174200-62189000	Weak transcription	Colon Smooth Muscle	Colon
40	chr1:62174400-62176000	Strong transcription	GM12878-XiMat	blood
41	chr1:62174400-62188800	Weak transcription	Brain Germinal Matrix	brain
42	chr1:62174400-62189800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:62174400-62189800	Weak transcription	Esophagus	oesophagus
44	chr1:62174600-62176000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:62174600-62176000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:62174600-62177000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr1:62174600-62184800	Weak transcription	HUVEC	blood vessel
48	chr1:62174600-62189200	Weak transcription	HepG2	liver
49	chr1:62174600-62190200	Weak transcription	Small Intestine	intestine
50	chr1:62174800-62176600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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