Variant report

Variant	rs12031951
Chromosome Location	chr1:220959301-220959302
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:220958619-220961999	Hela-S3	cervix:	n/a	n/a
2	KAP1	chr1:220958335-220960481	HEK293	kidney:	n/a	n/a
3	KAP1	chr1:220959287-220960313	U2OS	brain:	n/a	n/a
4	MYBL2	chr1:220959167-220959709	HepG2	liver:	n/a	n/a
5	CTBP2	chr1:220959280-220961075	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr1:220959233-220961100	HepG2	liver:	n/a	n/a
7	POLR2A	chr1:220959217-220961067	HepG2	liver:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:220956529..220963831-chr1:220968712..220974793,12	MCF-7	breast:
2	chr1:220920087..220922800-chr1:220958239..220960991,2	MCF-7	breast:
3	chr1:220958915..220961807-chr1:220964103..220968214,4	MCF-7	breast:
4	chr1:220958940..220961119-chr1:220964763..220966587,2	MCF-7	breast:

No data

Variant related genes	Relation type
MARC1	TF binding region
ENSG00000117791	Chromatin interaction
ENSG00000186205	Chromatin interaction

Extended variants
information (count: 144 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:144)

rs_ID	r²[population]
rs10863563	0.95[ASN][1000 genomes]
rs11118602	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11118603	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1113125	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11557506	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12021979	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12023067	0.95[ASN][1000 genomes]
rs12023202	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12023249	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12023303	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12023484	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12024252	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12026176	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12026612	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12026813	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12026877	0.95[ASN][1000 genomes]
rs12027068	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12027298	1.00[EUR][1000 genomes]
rs12027302	1.00[EUR][1000 genomes]
rs12027337	1.00[EUR][1000 genomes]
rs12027930	0.95[ASN][1000 genomes]
rs12028584	0.95[ASN][1000 genomes]
rs12028887	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12029761	0.92[ASN][1000 genomes]
rs12029763	0.95[ASN][1000 genomes]
rs12030190	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12030249	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12030434	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12030456	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12031217	0.95[ASN][1000 genomes]
rs12031225	0.95[ASN][1000 genomes]
rs12031479	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12032061	0.95[ASN][1000 genomes]
rs12032336	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12033121	1.00[ASN][1000 genomes]
rs12033644	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12033645	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12033732	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12033808	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12034685	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12034691	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12038224	0.95[ASN][1000 genomes]
rs12039043	0.95[ASN][1000 genomes]
rs12039064	0.95[ASN][1000 genomes]
rs12039091	0.95[ASN][1000 genomes]
rs12039273	0.85[ASN][1000 genomes]
rs12039436	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12041919	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12041923	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12041952	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12041956	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12043169	0.81[ASN][1000 genomes]
rs12043238	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12043252	1.00[ASN][1000 genomes]
rs12044903	1.00[EUR][1000 genomes]
rs12045050	1.00[EUR][1000 genomes]
rs12046425	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12046511	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12046515	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12047809	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12047899	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12048193	1.00[EUR][1000 genomes]
rs12048740	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12048861	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12049111	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1389745	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1389746	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1389747	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1389748	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17008639	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17008644	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17008646	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17008649	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17008667	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17008670	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17008680	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs182872	1.00[EUR][1000 genomes]
rs1874115	0.95[ASN][1000 genomes]
rs1874116	0.95[ASN][1000 genomes]
rs1874117	0.95[ASN][1000 genomes]
rs1874118	0.95[ASN][1000 genomes]
rs1982894	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1982895	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2067632	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2067633	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2270534	0.82[ASN][1000 genomes]
rs2270535	0.82[ASN][1000 genomes]
rs2275574	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28525291	1.00[ASN][1000 genomes]
rs337137	1.00[EUR][1000 genomes]
rs337140	1.00[EUR][1000 genomes]
rs337141	1.00[EUR][1000 genomes]
rs337144	1.00[EUR][1000 genomes]
rs371348	1.00[EUR][1000 genomes]
rs3767324	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3795535	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3806326	1.00[ASN][1000 genomes]
rs3806328	1.00[ASN][1000 genomes]
rs3820350	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3820353	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3820357	1.00[ASN][1000 genomes]
rs3902885	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4124596	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs419746	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4480363	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs449699	1.00[EUR][1000 genomes]
rs453079	1.00[EUR][1000 genomes]
rs57187572	0.95[ASN][1000 genomes]
rs58744613	0.95[ASN][1000 genomes]
rs58774365	0.95[ASN][1000 genomes]
rs60326124	0.95[ASN][1000 genomes]
rs6671579	0.82[ASN][1000 genomes]
rs6687366	0.82[ASN][1000 genomes]
rs67065803	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67358577	0.97[ASN][1000 genomes]
rs67889619	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72470443	1.00[ASN][1000 genomes]
rs72470444	1.00[ASN][1000 genomes]
rs72470571	1.00[ASN][1000 genomes]
rs72470575	1.00[ASN][1000 genomes]
rs72470581	1.00[ASN][1000 genomes]
rs72470584	1.00[ASN][1000 genomes]
rs72470587	0.95[ASN][1000 genomes]
rs72470600	0.82[ASN][1000 genomes]
rs72472377	1.00[EUR][1000 genomes]
rs72472379	1.00[EUR][1000 genomes]
rs72472380	1.00[EUR][1000 genomes]
rs72472383	1.00[EUR][1000 genomes]
rs72472384	1.00[EUR][1000 genomes]
rs72472389	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72472390	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72472391	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72472392	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72472394	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72472398	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72473905	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72473913	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs746767	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs953970	0.95[ASN][1000 genomes]
rs9970128	0.95[ASN][1000 genomes]
rs9970130	0.95[ASN][1000 genomes]
rs9970393	0.95[ASN][1000 genomes]
rs9970394	0.95[ASN][1000 genomes]
rs9970623	0.95[ASN][1000 genomes]

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220922800-220959600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:220922800-220959600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:220925000-220959400	Weak transcription	Brain Angular Gyrus	brain
4	chr1:220930000-220959600	Weak transcription	Psoas Muscle	Psoas
5	chr1:220930400-220959600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:220936200-220959600	Weak transcription	A549	lung
7	chr1:220939000-220960400	Weak transcription	Small Intestine	intestine
8	chr1:220944200-220959400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:220944200-220959400	Weak transcription	Fetal Kidney	kidney
10	chr1:220944200-220959600	Weak transcription	NHLF	lung
11	chr1:220944200-220959800	Weak transcription	Gastric	stomach
12	chr1:220944400-220959400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:220944400-220959400	Weak transcription	Colonic Mucosa	Colon
14	chr1:220944400-220959400	Weak transcription	Right Ventricle	heart
15	chr1:220950400-220959400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr1:220950600-220959400	Weak transcription	Right Atrium	heart
17	chr1:220953200-220959600	Weak transcription	Lung	lung
18	chr1:220956800-220959400	Weak transcription	Placenta	Placenta
19	chr1:220956800-220959600	Enhancers	Hela-S3	cervix
20	chr1:220957000-220959400	Weak transcription	Pancreas	Pancrea
21	chr1:220957000-220959600	Weak transcription	Aorta	Aorta
22	chr1:220957200-220959400	Weak transcription	Spleen	Spleen
23	chr1:220957800-220959400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr1:220958000-220959400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr1:220958000-220959600	Enhancers	Liver	Liver
26	chr1:220958200-220959400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:220958200-220959400	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr1:220958200-220959400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr1:220958200-220959800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:220958200-220959800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:220958400-220959400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr1:220958400-220959400	Enhancers	HepG2	liver
33	chr1:220958400-220959600	Weak transcription	Left Ventricle	heart
34	chr1:220958600-220959400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
35	chr1:220958600-220959400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr1:220958600-220959600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:220958600-220959600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:220958600-220959600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:220958800-220959400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
40	chr1:220958800-220959400	Enhancers	H9 Cell Line	embryonic stem cell
41	chr1:220958800-220959400	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr1:220958800-220959400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr1:220958800-220959400	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr1:220958800-220959400	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr1:220958800-220959600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr1:220959000-220959400	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr1:220959000-220959600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
48	chr1:220959000-220959600	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr1:220959000-220959600	Enhancers	Brain Substantia Nigra	brain
50	chr1:220959000-220959800	Enhancers	Fetal Heart	heart

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