Variant report

Variant	rs60326124
Chromosome Location	chr1:220965717-220965718
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220965572..220968372-chr1:220969216..220971838,2	MCF-7	breast:
2	chr1:220958940..220961119-chr1:220964763..220966587,2	MCF-7	breast:
3	chr1:220963256..220967868-chr1:220967973..220972005,4	MCF-7	breast:
4	chr1:220963259..220966041-chr1:220969331..220970964,2	K562	blood:
5	chr1:220958915..220961807-chr1:220964103..220968214,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000186205	Chromatin interaction

Extended variants
information (count: 121 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs10863563	0.89[ASN][1000 genomes]
rs11118602	0.89[ASN][1000 genomes]
rs11118603	0.89[ASN][1000 genomes]
rs11118604	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1113125	0.89[ASN][1000 genomes]
rs11557506	0.89[ASN][1000 genomes]
rs12021979	0.83[ASN][1000 genomes]
rs12023067	1.00[ASN][1000 genomes]
rs12023202	0.89[ASN][1000 genomes]
rs12023249	0.89[ASN][1000 genomes]
rs12023303	0.89[ASN][1000 genomes]
rs12023484	0.83[ASN][1000 genomes]
rs12024252	0.89[ASN][1000 genomes]
rs12026135	0.82[ASN][1000 genomes]
rs12026176	0.89[ASN][1000 genomes]
rs12026612	0.89[ASN][1000 genomes]
rs12026813	0.83[ASN][1000 genomes]
rs12026877	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12027068	0.89[ASN][1000 genomes]
rs12027930	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12028584	0.89[ASN][1000 genomes]
rs12028887	0.83[ASN][1000 genomes]
rs12029761	0.87[ASN][1000 genomes]
rs12029763	0.89[ASN][1000 genomes]
rs12029901	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12030190	0.81[ASN][1000 genomes]
rs12030249	0.89[ASN][1000 genomes]
rs12030434	0.89[ASN][1000 genomes]
rs12030456	0.89[ASN][1000 genomes]
rs12031217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12031225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12031479	0.89[ASN][1000 genomes]
rs12031951	0.95[ASN][1000 genomes]
rs12032061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12032336	0.89[ASN][1000 genomes]
rs12033121	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12033644	0.89[ASN][1000 genomes]
rs12033645	0.89[ASN][1000 genomes]
rs12033732	0.89[ASN][1000 genomes]
rs12033808	0.87[ASN][1000 genomes]
rs12034685	0.89[ASN][1000 genomes]
rs12034691	0.89[ASN][1000 genomes]
rs12035639	0.82[ASN][1000 genomes]
rs12038224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12039043	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12039064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12039091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12039273	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12039436	0.89[ASN][1000 genomes]
rs12043252	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12045953	0.82[ASN][1000 genomes]
rs12047809	0.89[ASN][1000 genomes]
rs12047899	0.83[ASN][1000 genomes]
rs12048740	0.89[ASN][1000 genomes]
rs12048861	0.89[ASN][1000 genomes]
rs12049111	0.83[ASN][1000 genomes]
rs1389745	0.89[ASN][1000 genomes]
rs1389746	0.89[ASN][1000 genomes]
rs1389747	0.89[ASN][1000 genomes]
rs17008639	0.89[ASN][1000 genomes]
rs17008644	0.87[ASN][1000 genomes]
rs17008646	0.87[ASN][1000 genomes]
rs17008649	0.89[ASN][1000 genomes]
rs17008667	0.89[ASN][1000 genomes]
rs17008670	0.89[ASN][1000 genomes]
rs17008680	0.89[ASN][1000 genomes]
rs1874115	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1874116	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1874117	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1874118	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1874122	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1874123	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1982894	0.89[ASN][1000 genomes]
rs1982895	0.89[ASN][1000 genomes]
rs2067632	0.89[ASN][1000 genomes]
rs2067633	0.89[ASN][1000 genomes]
rs2270534	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2270535	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28525291	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3767324	0.89[ASN][1000 genomes]
rs3795535	0.81[ASN][1000 genomes]
rs3806326	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3806328	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3820357	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3902885	0.92[ASN][1000 genomes]
rs4124596	0.92[ASN][1000 genomes]
rs4480363	0.89[ASN][1000 genomes]
rs57187572	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58744613	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58774365	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59611661	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6671579	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6687366	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67065803	0.92[ASN][1000 genomes]
rs67358577	0.92[ASN][1000 genomes]
rs67889619	0.87[ASN][1000 genomes]
rs72470443	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72470444	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72470571	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72470575	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72470581	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72470584	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72470587	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72470600	0.87[ASN][1000 genomes]
rs72472389	0.81[ASN][1000 genomes]
rs72472390	0.81[ASN][1000 genomes]
rs72472391	0.81[ASN][1000 genomes]
rs72472392	0.81[ASN][1000 genomes]
rs72472394	0.81[ASN][1000 genomes]
rs72472398	0.89[ASN][1000 genomes]
rs72473905	0.89[ASN][1000 genomes]
rs72473913	0.89[ASN][1000 genomes]
rs746767	0.95[ASN][1000 genomes]
rs953970	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9970128	0.89[ASN][1000 genomes]
rs9970130	0.89[ASN][1000 genomes]
rs9970393	0.89[ASN][1000 genomes]
rs9970394	0.89[ASN][1000 genomes]
rs9970623	0.89[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	esv1796146	chr1:220965474-220966649	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv1802688	chr1:220965474-220966649	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220961000-220970200	Weak transcription	Fetal Kidney	kidney
2	chr1:220961000-220971200	Weak transcription	Spleen	Spleen
3	chr1:220961000-220973400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:220961000-220976800	Weak transcription	Ovary	ovary
5	chr1:220961000-220978200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:220961000-220982200	Weak transcription	Brain Substantia Nigra	brain
7	chr1:220961200-220971200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr1:220961400-220970600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr1:220961400-220983800	Weak transcription	Esophagus	oesophagus
10	chr1:220961600-220965800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr1:220961600-220966600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:220961600-220969400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr1:220961600-220970000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:220961600-220970600	Weak transcription	Fetal Brain Female	brain
15	chr1:220961600-220971000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:220961600-220975000	Weak transcription	Brain Angular Gyrus	brain
17	chr1:220961600-220975200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:220961600-220983600	Weak transcription	Pancreas	Pancrea
19	chr1:220961800-220966000	Enhancers	Liver	Liver
20	chr1:220961800-220967000	Weak transcription	Brain Hippocampus Middle	brain
21	chr1:220961800-220969600	Weak transcription	Stomach Mucosa	stomach
22	chr1:220961800-220969800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:220961800-220970000	Weak transcription	Fetal Stomach	stomach
24	chr1:220961800-220971600	Weak transcription	Brain Germinal Matrix	brain
25	chr1:220961800-220972000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr1:220961800-220974200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr1:220961800-220979800	Weak transcription	Right Atrium	heart
28	chr1:220961800-220981400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:220961800-220981600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr1:220961800-220983800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:220962000-220975000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:220962600-220966400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:220962600-220969800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:220963600-220965800	Enhancers	Fetal Lung	lung
35	chr1:220964000-220965800	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr1:220964000-220974000	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr1:220964400-220965800	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr1:220964400-220966000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr1:220964600-220966800	Weak transcription	Fetal Intestine Large	intestine
40	chr1:220964800-220970600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:220964800-220972000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr1:220964800-220978400	Weak transcription	Primary B cells from cord blood	blood
43	chr1:220965000-220965800	Enhancers	Fetal Heart	heart
44	chr1:220965000-220968400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr1:220965000-220970000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr1:220965000-220972600	Weak transcription	Colonic Mucosa	Colon
47	chr1:220965000-220972600	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr1:220965000-220980000	Weak transcription	Fetal Muscle Leg	muscle
49	chr1:220965200-220965800	Enhancers	Adipose Nuclei	Adipose
50	chr1:220965200-220965800	Enhancers	Monocytes-CD14+_RO01746	blood

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