Variant report

Variant	rs61775887
Chromosome Location	chr1:10284733-10284734
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr1:10284716-10285891	HEK293	kidney:	n/a	n/a
2	SETDB1	chr1:10284546-10286332	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:10284668..10286801-chr1:10289342..10292166,2	K562	blood:

Variant related genes	Relation type
MIR1273D	TF binding region
ENSG00000054523	Chromatin interaction

Extended variants
information (count: 136 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:133)

rs_ID	r²[population]
rs1013952	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1013953	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10492969	0.97[ASN][1000 genomes]
rs10492971	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10492972	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10492973	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1065828	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10864448	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10864449	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10864450	0.94[ASN][1000 genomes]
rs10864453	0.83[ASN][1000 genomes]
rs11121533	0.82[AMR][1000 genomes]
rs11121535	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11121537	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11121539	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11121545	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11121551	0.81[EUR][1000 genomes]
rs11576459	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11580789	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11580854	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11582123	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11584023	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12116966	0.80[ASN][1000 genomes]
rs12117635	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12120042	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12120191	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12122029	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12125535	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12127553	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12127604	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12129035	0.82[AMR][1000 genomes]
rs12130563	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12131441	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12132134	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12133617	0.97[ASN][1000 genomes]
rs12136376	0.81[AMR][1000 genomes]
rs12136404	0.94[ASN][1000 genomes]
rs12137880	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12139981	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12141246	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12141416	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12403465	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12406943	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12408019	0.81[AMR][1000 genomes]
rs12409137	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12409933	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12722830	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12725210	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12728071	0.83[EUR][1000 genomes]
rs12737239	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12738317	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12753426	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12757288	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1538557	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1555849	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1556916	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1556917	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17034643	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17034821	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17396973	0.94[ASN][1000 genomes]
rs17400510	0.84[AMR][1000 genomes]
rs17410217	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1970379	0.91[ASN][1000 genomes]
rs2027327	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2027328	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2027329	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2027330	0.91[ASN][1000 genomes]
rs2039778	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2105212	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2148152	0.85[EUR][1000 genomes]
rs2182326	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2185252	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2276100	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34565762	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34636442	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35257796	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35388505	0.85[ASN][1000 genomes]
rs35766535	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35850116	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3748575	0.93[ASN][1000 genomes]
rs3748577	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3748579	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3828081	0.81[ASN][1000 genomes]
rs4240911	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4333852	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4475756	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4529713	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4623	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4845930	0.94[ASN][1000 genomes]
rs4845931	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4845932	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4846197	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4846198	0.97[ASN][1000 genomes]
rs4846199	0.97[ASN][1000 genomes]
rs4846205	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4846206	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4846207	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4846209	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4846211	0.93[ASN][1000 genomes]
rs4846212	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4846213	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55676616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61775872	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61775874	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61775885	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61778376	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61778399	0.82[EUR][1000 genomes]
rs61778401	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61778402	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61784570	0.80[ASN][1000 genomes]
rs6541084	0.97[ASN][1000 genomes]
rs6541085	0.97[ASN][1000 genomes]
rs6541089	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6541090	0.83[ASN][1000 genomes]
rs6685895	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6696056	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7368073	0.88[ASN][1000 genomes]
rs746881	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7524693	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7524908	0.97[ASN][1000 genomes]
rs7546364	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7547513	0.94[ASN][1000 genomes]
rs7553228	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7553935	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8019	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs912961	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs912962	0.93[ASN][1000 genomes]
rs912963	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9332414	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs946501	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs946502	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs946503	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs946504	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv999251	chr1:10276263-10318163	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10272600-10368200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:10272800-10290000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:10272800-10296600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:10274000-10285200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr1:10276800-10311800	Weak transcription	Hela-S3	cervix
6	chr1:10277000-10322000	Weak transcription	Spleen	Spleen
7	chr1:10278200-10285000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:10278200-10285200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:10278400-10285000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:10278400-10285000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:10278400-10285000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:10278400-10285000	Weak transcription	Aorta	Aorta
13	chr1:10278400-10285000	Weak transcription	Fetal Kidney	kidney
14	chr1:10278400-10285000	Weak transcription	HSMM	muscle
15	chr1:10278400-10285000	Weak transcription	NH-A	brain
16	chr1:10278400-10285200	Weak transcription	Pancreas	Pancrea
17	chr1:10278400-10291000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:10278400-10295200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:10278400-10302000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr1:10278600-10285000	Weak transcription	Fetal Heart	heart
21	chr1:10278600-10294800	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr1:10278800-10285000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:10278800-10292400	Weak transcription	Fetal Muscle Leg	muscle
24	chr1:10278800-10296400	Weak transcription	Fetal Lung	lung
25	chr1:10279000-10284800	Weak transcription	Osteobl	bone
26	chr1:10279000-10285000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:10279800-10297800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr1:10281000-10294800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:10281400-10285000	Weak transcription	Lung	lung
30	chr1:10281400-10285200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr1:10282400-10285000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:10282600-10291000	Weak transcription	Fetal Brain Female	brain
33	chr1:10283000-10285200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:10283000-10288600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:10283600-10286200	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr1:10283600-10287400	Enhancers	Left Ventricle	heart
37	chr1:10283800-10285000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
38	chr1:10283800-10285400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr1:10284000-10285000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:10284000-10285200	ZNF genes & repeats	Fetal Intestine Small	intestine
41	chr1:10284000-10285800	Enhancers	Psoas Muscle	Psoas
42	chr1:10284000-10286800	Enhancers	Brain Substantia Nigra	brain
43	chr1:10284000-10287600	Enhancers	Brain Anterior Caudate	brain
44	chr1:10284000-10289200	Enhancers	Brain Hippocampus Middle	brain
45	chr1:10284200-10285000	Weak transcription	Colon Smooth Muscle	Colon
46	chr1:10284200-10285000	Weak transcription	Ovary	ovary
47	chr1:10284400-10284800	Weak transcription	Right Atrium	heart
48	chr1:10284400-10285000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:10284400-10285400	Enhancers	HepG2	liver
50	chr1:10284400-10286000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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