Variant report

Variant	rs61820966
Chromosome Location	chr1:176009953-176009954
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:176007125..176010101-chr1:176013054..176015518,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs12402588	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12403164	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12407451	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12408191	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12408512	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12409154	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12411139	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16849609	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17351760	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17351774	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17354043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4265393	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4292913	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4497165	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4498761	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55779970	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55815340	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56346636	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57729493	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58539711	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59540069	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59801736	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60630667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61820918	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61820933	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61820935	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61820936	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61820954	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61820962	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61820963	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61820964	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61820969	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61820971	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61820976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61821000	0.92[EUR][1000 genomes]
rs61821005	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61821006	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61821032	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61821033	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61821035	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61821055	0.85[AMR][1000 genomes]
rs61821058	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61821059	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61822660	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61822661	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61822663	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61822765	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61822766	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61822768	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6701833	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs74127146	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs74127162	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7553673	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1823794	chr1:175869554-176311778	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv872561	chr1:175949646-176092167	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv872562	chr1:175949646-176141866	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv872563	chr1:175949646-176184625	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	esv1835152	chr1:175996260-176012807	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175957800-176022000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr1:175974600-176014200	Weak transcription	Colon Smooth Muscle	Colon
3	chr1:175975800-176016200	Weak transcription	HSMMtube	muscle
4	chr1:175976400-176014400	Weak transcription	Brain Angular Gyrus	brain
5	chr1:175976800-176046000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:175978200-176050600	Weak transcription	Aorta	Aorta
7	chr1:175978400-176014000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:175978400-176014800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr1:175978400-176017800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr1:175978400-176069000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr1:175979200-176011800	Weak transcription	Brain Anterior Caudate	brain
12	chr1:175979400-176012200	Weak transcription	HepG2	liver
13	chr1:175979600-176010600	Weak transcription	Right Ventricle	heart
14	chr1:175979600-176012000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr1:175979600-176045400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:175979800-176014400	Weak transcription	Brain Substantia Nigra	brain
17	chr1:175980200-176028000	Weak transcription	K562	blood
18	chr1:175982200-176012200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:175983400-176010600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr1:175989800-176010600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:175989800-176010600	Weak transcription	Spleen	Spleen
22	chr1:175989800-176036400	Weak transcription	Pancreas	Pancrea
23	chr1:175994200-176065200	Weak transcription	Psoas Muscle	Psoas
24	chr1:175999000-176017000	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr1:176000600-176014800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr1:176001800-176016200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr1:176002000-176010600	Weak transcription	Thymus	Thymus
28	chr1:176002400-176012400	Weak transcription	Colonic Mucosa	Colon
29	chr1:176003600-176014600	Weak transcription	NH-A	brain
30	chr1:176003600-176016200	Weak transcription	HMEC	breast
31	chr1:176003800-176010600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr1:176003800-176021400	Weak transcription	Osteobl	bone
33	chr1:176004000-176014000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr1:176004000-176014200	Weak transcription	HUVEC	blood vessel
35	chr1:176004000-176018200	Weak transcription	Hela-S3	cervix
36	chr1:176004000-176021200	Weak transcription	A549	lung
37	chr1:176004000-176026400	Weak transcription	Small Intestine	intestine
38	chr1:176004000-176036400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:176004200-176012000	Weak transcription	NHLF	lung
40	chr1:176004200-176016000	Weak transcription	NHEK	skin
41	chr1:176004200-176039800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:176005400-176015400	Strong transcription	Dnd41	blood
43	chr1:176005600-176013400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:176005600-176015400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:176005600-176015400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:176005800-176010800	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr1:176005800-176011000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr1:176006000-176013000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:176006000-176045200	Weak transcription	GM12878-XiMat	blood
50	chr1:176006200-176049000	Weak transcription	HSMM	muscle

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