Variant report

Variant	rs4653640
Chromosome Location	chr1:225636789-225636790
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:225636376..225639030-chr1:225641511..225643648,3	K562	blood:
2	chr1:225615892..225618526-chr1:225635437..225638461,3	K562	blood:
3	chr1:225633065..225638606-chr1:225639136..225643843,7	MCF-7	breast:
4	chr1:225615694..225617916-chr1:225635591..225638558,4	K562	blood:
5	chr1:225635546..225637561-chr1:226249927..226252197,2	K562	blood:
6	chr1:225629716..225632443-chr1:225636032..225637800,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143815	Chromatin interaction
ENSG00000163041	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10799310	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10915831	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10915836	0.82[ASN][1000 genomes]
rs12071529	0.83[EUR][1000 genomes]
rs1340865	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1890999	0.84[EUR][1000 genomes]
rs2185528	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4233220	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4554690	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4653638	0.93[EUR][1000 genomes]
rs6426075	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6692054	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6702641	0.82[ASN][1000 genomes]
rs72750896	0.81[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	nsv832714	chr1:225592333-225805396	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1004851	chr1:225614140-225684184	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv34905	chr1:225631404-225676582	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225632200-225637800	Enhancers	Stomach Mucosa	stomach
2	chr1:225633000-225640200	Enhancers	Fetal Thymus	thymus
3	chr1:225633400-225637800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr1:225633600-225637200	Enhancers	Hela-S3	cervix
5	chr1:225633600-225642000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:225633800-225637800	Enhancers	Colonic Mucosa	Colon
7	chr1:225633800-225638400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:225634200-225638000	Enhancers	Duodenum Mucosa	Duodenum
9	chr1:225634200-225642000	Weak transcription	K562	blood
10	chr1:225634400-225638200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:225634600-225638200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr1:225634600-225648400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:225635000-225638200	Weak transcription	Thymus	Thymus
14	chr1:225635000-225647800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr1:225635200-225639200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:225635200-225641200	Weak transcription	Liver	Liver
17	chr1:225635400-225637000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:225635400-225638400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr1:225635400-225641800	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr1:225635600-225637000	Weak transcription	Spleen	Spleen
21	chr1:225635600-225637200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:225635600-225637200	Weak transcription	Gastric	stomach
23	chr1:225635600-225637200	Weak transcription	Small Intestine	intestine
24	chr1:225635600-225638200	Weak transcription	Left Ventricle	heart
25	chr1:225635600-225638600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:225635600-225641600	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr1:225635600-225642000	Weak transcription	Pancreas	Pancrea
28	chr1:225635800-225637000	Weak transcription	Placenta	Placenta
29	chr1:225635800-225637200	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr1:225635800-225637200	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr1:225635800-225637400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:225635800-225637400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:225635800-225637400	Weak transcription	Lung	lung
34	chr1:225635800-225638200	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr1:225635800-225638600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr1:225635800-225639800	Enhancers	Adipose Nuclei	Adipose
37	chr1:225636000-225637000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr1:225636000-225638600	Weak transcription	Fetal Kidney	kidney
39	chr1:225636200-225637000	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr1:225636200-225637200	Enhancers	A549	lung
41	chr1:225636200-225637200	Enhancers	Osteobl	bone
42	chr1:225636200-225637800	Enhancers	Fetal Stomach	stomach
43	chr1:225636200-225650000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:225636400-225636800	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr1:225636400-225637000	Enhancers	Colon Smooth Muscle	Colon
46	chr1:225636400-225637200	Weak transcription	Right Ventricle	heart
47	chr1:225636400-225637200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr1:225636400-225637800	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr1:225636400-225638800	Weak transcription	Brain Anterior Caudate	brain
50	chr1:225636400-225639800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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