Variant report

Variant	rs59104475
Chromosome Location	chr1:224028577-224028578
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224006162..224007955-chr1:224027142..224029222,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1003061	0.91[ASN][1000 genomes]
rs1153927	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1153929	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1153930	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1153933	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1153934	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1153936	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1153937	0.93[EUR][1000 genomes]
rs1153938	0.93[EUR][1000 genomes]
rs1153943	0.94[EUR][1000 genomes]
rs1153947	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1153949	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1153971	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1153973	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1222120	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1222121	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1222124	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1222128	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1222146	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1222156	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1621129	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1629850	0.84[EUR][1000 genomes]
rs16842270	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16842294	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16842321	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1981171	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1982610	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1982612	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1982613	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2242188	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28370163	0.89[EUR][1000 genomes]
rs28370164	0.89[EUR][1000 genomes]
rs28370167	0.89[EUR][1000 genomes]
rs28370172	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3738370	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3767709	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4653457	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56329085	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56918361	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59196624	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60131749	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60164080	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60739082	0.88[ASN][1000 genomes]
rs6604726	0.88[ASN][1000 genomes]
rs6661816	0.90[ASN][1000 genomes]
rs6675712	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6687003	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6694214	0.95[AFR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6694471	0.82[ASN][1000 genomes]
rs72749554	0.90[EUR][1000 genomes]
rs72749569	0.94[EUR][1000 genomes]
rs72749588	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs737066	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs750873	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7536779	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs898878	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1007380	chr1:223834380-224042190	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv535310	chr1:223834380-224042190	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv1008800	chr1:223904653-224061032	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224020600-224032400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:224020800-224028600	Weak transcription	Placenta	Placenta
3	chr1:224020800-224031600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:224023000-224029000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr1:224023000-224030600	Weak transcription	Fetal Kidney	kidney
6	chr1:224023200-224031600	Weak transcription	Hela-S3	cervix
7	chr1:224024000-224031800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr1:224024000-224031800	Weak transcription	Thymus	Thymus
9	chr1:224024200-224031600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr1:224024200-224031600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr1:224024200-224031600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:224024200-224031800	Weak transcription	Adipose Nuclei	Adipose
13	chr1:224024400-224031800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr1:224024600-224028800	Weak transcription	Psoas Muscle	Psoas
15	chr1:224024600-224029600	Weak transcription	Pancreas	Pancrea
16	chr1:224024600-224030800	Weak transcription	Primary B cells from cord blood	blood
17	chr1:224024600-224031600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr1:224024600-224031800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:224024600-224031800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:224024600-224031800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr1:224024600-224031800	Weak transcription	Esophagus	oesophagus
22	chr1:224025200-224030000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr1:224025200-224030600	Weak transcription	NHEK	skin
24	chr1:224025200-224031800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr1:224025400-224029400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr1:224025600-224032200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:224025800-224029600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr1:224025800-224029800	Weak transcription	Fetal Brain Male	brain
29	chr1:224026000-224030000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr1:224026000-224031600	Weak transcription	Fetal Intestine Small	intestine
31	chr1:224026200-224028600	Weak transcription	Liver	Liver
32	chr1:224026200-224029200	Weak transcription	A549	lung
33	chr1:224026200-224030000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:224026200-224031800	Weak transcription	Colon Smooth Muscle	Colon
35	chr1:224026400-224028600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:224026400-224028600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr1:224026400-224028600	Weak transcription	Ovary	ovary
38	chr1:224026400-224029200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:224026400-224029400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:224026400-224029800	Weak transcription	Brain Angular Gyrus	brain
41	chr1:224026400-224030000	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr1:224026400-224030000	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr1:224026400-224030000	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr1:224026400-224030000	Weak transcription	Small Intestine	intestine
45	chr1:224026400-224030400	Weak transcription	Primary T cells from cord blood	blood
46	chr1:224026400-224030600	Weak transcription	HepG2	liver
47	chr1:224026400-224030600	Weak transcription	HUVEC	blood vessel
48	chr1:224026400-224031600	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr1:224026400-224031600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr1:224026400-224031600	Weak transcription	Fetal Intestine Large	intestine

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