Variant report

Variant	rs61821059
Chromosome Location	chr1:176162480-176162481
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:176148340..176150174-chr1:176160183..176162598,2	K562	blood:
2	chr1:176162300..176164621-chr1:176169687..176171283,2	MCF-7	breast:
3	chr1:176156354..176160388-chr1:176161822..176166089,4	K562	blood:
4	chr1:176160590..176162679-chr1:176162879..176165035,2	K562	blood:
5	chr1:176161390..176163219-chr1:176165371..176168368,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs12402588	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12403164	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12408191	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12409154	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16849609	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17354043	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4265393	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4292913	0.81[AMR][1000 genomes]
rs4497165	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4498761	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55815340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56346636	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57729493	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58539711	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs59540069	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59801736	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs60630667	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61820954	0.83[AMR][1000 genomes]
rs61820962	0.85[AMR][1000 genomes]
rs61820963	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61820964	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61820966	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61820969	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61820971	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61820976	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61821005	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61821006	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61821032	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61821033	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61821035	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61821055	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61821058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61822660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61822661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61822663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61822765	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61822766	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61822768	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs74127162	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7553673	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][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	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	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
3	nsv872565	chr1:176058782-176172795	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:176110600-176164000	Weak transcription	NHLF	lung
2	chr1:176126400-176168800	Weak transcription	Small Intestine	intestine
3	chr1:176127000-176174000	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:176128000-176175200	Weak transcription	Esophagus	oesophagus
5	chr1:176137400-176173000	Weak transcription	Right Ventricle	heart
6	chr1:176140000-176168200	Weak transcription	Psoas Muscle	Psoas
7	chr1:176143000-176165800	Weak transcription	Lung	lung
8	chr1:176144000-176172800	Weak transcription	HMEC	breast
9	chr1:176144400-176170800	Weak transcription	K562	blood
10	chr1:176144400-176173400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:176144600-176168600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:176144800-176164600	Weak transcription	NHDF-Ad	bronchial
13	chr1:176144800-176172800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr1:176145000-176173200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:176146000-176171400	Weak transcription	Left Ventricle	heart
16	chr1:176146000-176173000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:176150600-176173000	Weak transcription	Hela-S3	cervix
18	chr1:176151800-176173000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr1:176152000-176168800	Weak transcription	Primary B cells from cord blood	blood
20	chr1:176152000-176168800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr1:176152000-176173000	Weak transcription	Thymus	Thymus
22	chr1:176153200-176165800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:176153200-176173000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr1:176153600-176169600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:176153600-176173000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:176153600-176173000	Weak transcription	HSMM	muscle
27	chr1:176153800-176166200	Weak transcription	Dnd41	blood
28	chr1:176156000-176172600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:176157800-176167200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr1:176158000-176166200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr1:176159400-176164000	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr1:176160200-176164800	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr1:176161200-176167600	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr1:176161400-176162600	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr1:176161400-176163400	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr1:176161600-176162600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr1:176161600-176162600	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr1:176161600-176173800	Weak transcription	HUVEC	blood vessel
39	chr1:176161800-176169600	Weak transcription	Primary T cells from cord blood	blood
40	chr1:176161800-176172400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr1:176162200-176162600	Flanking Active TSS	GM12878-XiMat	blood
42	chr1:176162200-176162600	Enhancers	HepG2	liver
43	chr1:176162200-176162800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr1:176162200-176163600	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr1:176162400-176162600	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr1:176162400-176162600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:176162400-176163800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr1:176162400-176164800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr1:176162400-176166200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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