Variant report

Variant	rs12045953
Chromosome Location	chr1:220973498-220973499
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220958953..220960736-chr1:220972237..220974032,2	K562	blood:
2	chr1:220956529..220963831-chr1:220968712..220974793,12	MCF-7	breast:
3	chr1:220969395..220971415-chr1:220971803..220974500,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MARC2-2	chr1:220972826-220975156	ucscGeneNc_uc001hns_1

Variant related genes	Relation type
ENSG00000186205	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs11118603	0.89[CHB][hapmap];1.00[CHD][hapmap]
rs11118604	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12021979	0.90[CHB][hapmap];1.00[CHD][hapmap]
rs12023067	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs12023149	1.00[EUR][1000 genomes]
rs12023202	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs12023249	0.88[CHB][hapmap]
rs12023303	0.88[CHB][hapmap]
rs12023484	1.00[JPT][hapmap]
rs12025460	1.00[EUR][1000 genomes]
rs12026135	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs12026813	0.90[CHB][hapmap];1.00[CHD][hapmap]
rs12026877	0.82[ASN][1000 genomes]
rs12027068	0.89[CHB][hapmap]
rs12027298	0.90[CHB][hapmap]
rs12027930	0.82[ASN][1000 genomes]
rs12029901	0.90[ASN][1000 genomes]
rs12030190	0.89[CHB][hapmap]
rs12030249	0.89[CHB][hapmap];1.00[CHD][hapmap]
rs12030434	0.89[CHB][hapmap];1.00[CHD][hapmap]
rs12031217	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[ASN][1000 genomes]
rs12031225	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12031479	0.88[CHB][hapmap]
rs12032061	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12032336	0.88[CHB][hapmap]
rs12033644	0.88[CHB][hapmap]
rs12033732	0.88[CHB][hapmap]
rs12033808	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[ASN][1000 genomes]
rs12034895	1.00[EUR][1000 genomes]
rs12034995	0.89[CHB][hapmap]
rs12035639	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12038224	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[ASN][1000 genomes]
rs12038621	1.00[EUR][1000 genomes]
rs12039043	0.90[CHB][hapmap];1.00[CHD][hapmap];0.82[ASN][1000 genomes]
rs12039064	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[ASN][1000 genomes]
rs12039091	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[ASN][1000 genomes]
rs12039273	0.82[ASN][1000 genomes]
rs12042585	1.00[EUR][1000 genomes]
rs12043238	0.88[CHB][hapmap]
rs12043602	1.00[EUR][1000 genomes]
rs12044903	0.90[CHB][hapmap];0.86[CHD][hapmap]
rs12047899	0.89[CHB][hapmap]
rs17008680	0.89[CHB][hapmap];1.00[CHD][hapmap]
rs1874115	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[ASN][1000 genomes]
rs1874116	1.00[CHB][hapmap];0.93[CHD][hapmap];0.82[ASN][1000 genomes]
rs1874117	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[ASN][1000 genomes]
rs1874118	0.82[ASN][1000 genomes]
rs1874122	0.90[ASN][1000 genomes]
rs1874123	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs1982895	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2067632	0.88[CHB][hapmap]
rs2067633	0.89[CHB][hapmap]
rs2270534	0.95[ASN][1000 genomes]
rs2270535	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.95[ASN][1000 genomes]
rs337140	0.86[CHB][hapmap]
rs35297838	0.86[CHD][hapmap]
rs371348	0.90[CHB][hapmap];0.93[CHD][hapmap]
rs3767324	0.89[CHB][hapmap];0.93[CHD][hapmap]
rs3795535	0.90[CHB][hapmap];1.00[CHD][hapmap]
rs3820350	0.90[CHB][hapmap]
rs3820353	0.90[CHB][hapmap]
rs453079	0.90[CHB][hapmap];0.93[CHD][hapmap]
rs57187572	0.82[ASN][1000 genomes]
rs57487362	1.00[AMR][1000 genomes]
rs58538649	1.00[EUR][1000 genomes]
rs58744613	0.82[ASN][1000 genomes]
rs58774365	0.82[ASN][1000 genomes]
rs59604030	1.00[AMR][1000 genomes]
rs60087444	1.00[EUR][1000 genomes]
rs60253016	1.00[AMR][1000 genomes]
rs60326124	0.82[ASN][1000 genomes]
rs6671579	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.95[ASN][1000 genomes]
rs6687366	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.95[ASN][1000 genomes]
rs67889619	0.95[ASN][1000 genomes]
rs72470587	0.82[ASN][1000 genomes]
rs72470600	0.95[ASN][1000 genomes]
rs72472309	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72472366	1.00[EUR][1000 genomes]
rs74141826	1.00[AMR][1000 genomes]
rs746767	0.89[CHB][hapmap];0.93[CHD][hapmap]
rs953970	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[ASN][1000 genomes]
rs9970394	0.89[CHB][hapmap];1.00[CHD][hapmap]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220961000-220976800	Weak transcription	Ovary	ovary
2	chr1:220961000-220978200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:220961000-220982200	Weak transcription	Brain Substantia Nigra	brain
4	chr1:220961400-220983800	Weak transcription	Esophagus	oesophagus
5	chr1:220961600-220975000	Weak transcription	Brain Angular Gyrus	brain
6	chr1:220961600-220975200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:220961600-220983600	Weak transcription	Pancreas	Pancrea
8	chr1:220961800-220974200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:220961800-220979800	Weak transcription	Right Atrium	heart
10	chr1:220961800-220981400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:220961800-220981600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr1:220961800-220983800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:220962000-220975000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:220964000-220974000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:220964800-220978400	Weak transcription	Primary B cells from cord blood	blood
16	chr1:220965000-220980000	Weak transcription	Fetal Muscle Leg	muscle
17	chr1:220965200-220979600	Weak transcription	Gastric	stomach
18	chr1:220965200-220985400	Weak transcription	Aorta	Aorta
19	chr1:220965400-220982200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr1:220965600-220983600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:220965800-220983800	Weak transcription	Fetal Lung	lung
22	chr1:220966400-220996000	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr1:220966600-220982400	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr1:220966800-220985200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr1:220967600-220976400	Strong transcription	Adipose Nuclei	Adipose
26	chr1:220967600-220983800	Weak transcription	Psoas Muscle	Psoas
27	chr1:220968200-220977200	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr1:220969600-220975600	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:220969600-220978800	Strong transcription	HepG2	liver
30	chr1:220969800-220974200	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr1:220969800-220976400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:220969800-220976600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr1:220970000-220975600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr1:220970000-220975600	Strong transcription	Fetal Intestine Large	intestine
35	chr1:220970000-220976000	Strong transcription	Fetal Stomach	stomach
36	chr1:220970400-220981600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr1:220970400-220985800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr1:220970600-220974200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:220970600-220974400	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr1:220970600-220975200	Strong transcription	Liver	Liver
41	chr1:220970600-220976400	Strong transcription	Fetal Brain Female	brain
42	chr1:220970800-220981600	Weak transcription	Brain Hippocampus Middle	brain
43	chr1:220971000-220975600	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr1:220971000-220976400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:220971200-220973800	Strong transcription	Stomach Smooth Muscle	stomach
46	chr1:220971200-220976400	Strong transcription	Spleen	Spleen
47	chr1:220971200-220986400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:220971200-220991400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:220971600-220975200	Strong transcription	Brain Germinal Matrix	brain
50	chr1:220971600-220976200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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