Variant report

Variant	rs4308966
Chromosome Location	chr1:154432622-154432623
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:154429933..154432687-chr1:154440659..154442962,2	K562	blood:
2	chr1:154425976..154427973-chr1:154430433..154433382,2	K562	blood:
3	chr1:154431187..154433172-chr1:154441462..154443845,2	K562	blood:
4	chr1:154421013..154422978-chr1:154430070..154432949,2	K562	blood:
5	chr1:154315444..154317958-chr1:154431892..154433961,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160712	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10159236	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10752642	0.87[EUR][1000 genomes]
rs10752643	0.82[EUR][1000 genomes]
rs10908844	0.82[EUR][1000 genomes]
rs10908846	0.82[EUR][1000 genomes]
rs11265618	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11804305	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12023358	0.83[EUR][1000 genomes]
rs12047973	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12048091	0.81[ASN][1000 genomes]
rs12048950	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12118074	0.87[EUR][1000 genomes]
rs12124333	0.87[EUR][1000 genomes]
rs14021	0.90[EUR][1000 genomes]
rs16836054	0.88[EUR][1000 genomes]
rs41302545	0.85[EUR][1000 genomes]
rs4131514	0.82[EUR][1000 genomes]
rs4269769	0.82[EUR][1000 genomes]
rs4288587	0.82[EUR][1000 genomes]
rs4329505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4345796	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4474240	0.87[EUR][1000 genomes]
rs4518898	0.82[EUR][1000 genomes]
rs4575077	0.82[EUR][1000 genomes]
rs4585969	0.82[EUR][1000 genomes]
rs4845626	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4845634	0.88[EUR][1000 genomes]
rs4845635	0.87[EUR][1000 genomes]
rs4845636	0.87[EUR][1000 genomes]
rs4845640	0.82[EUR][1000 genomes]
rs4845641	0.82[EUR][1000 genomes]
rs4845644	0.83[EUR][1000 genomes]
rs4845648	0.83[EUR][1000 genomes]
rs55800510	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55826755	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56233546	0.88[EUR][1000 genomes]
rs57502626	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61811362	0.83[EUR][1000 genomes]
rs61812592	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61812593	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61812594	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61812596	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61812599	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61812626	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61812631	0.88[EUR][1000 genomes]
rs61812654	0.83[EUR][1000 genomes]
rs6427716	0.82[EUR][1000 genomes]
rs6427722	0.82[EUR][1000 genomes]
rs6656395	0.82[EUR][1000 genomes]
rs6662503	0.86[EUR][1000 genomes]
rs6670375	0.82[EUR][1000 genomes]
rs6687112	0.82[EUR][1000 genomes]
rs6689710	0.80[EUR][1000 genomes]
rs6691727	0.82[EUR][1000 genomes]
rs6696177	0.83[EUR][1000 genomes]
rs6697103	0.82[EUR][1000 genomes]
rs6697115	0.82[EUR][1000 genomes]
rs6701586	0.82[EUR][1000 genomes]
rs72698167	0.88[EUR][1000 genomes]
rs7513603	0.87[EUR][1000 genomes]
rs7526247	0.83[EUR][1000 genomes]
rs7539745	0.84[EUR][1000 genomes]
rs7550664	0.84[EUR][1000 genomes]
rs7553602	0.82[EUR][1000 genomes]
rs9427076	0.83[EUR][1000 genomes]
rs9427082	0.85[EUR][1000 genomes]
rs9427415	0.83[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	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
3	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154414800-154436000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:154416200-154435800	Strong transcription	Liver	Liver
3	chr1:154418000-154440000	Weak transcription	Small Intestine	intestine
4	chr1:154418600-154432800	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr1:154419200-154435800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:154422600-154434400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr1:154422600-154437600	Weak transcription	Pancreas	Pancrea
8	chr1:154424800-154436000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:154425000-154437200	Weak transcription	Fetal Stomach	stomach
10	chr1:154426000-154434200	Weak transcription	Placenta	Placenta
11	chr1:154426000-154436200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr1:154426200-154433600	Strong transcription	Skeletal Muscle Female	skeletal muscle
13	chr1:154426200-154434400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:154426200-154436000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr1:154426400-154432800	Strong transcription	Lung	lung
16	chr1:154426400-154434800	Strong transcription	Stomach Smooth Muscle	stomach
17	chr1:154426400-154435600	Weak transcription	Stomach Mucosa	stomach
18	chr1:154426400-154436000	Weak transcription	Esophagus	oesophagus
19	chr1:154426400-154436000	Weak transcription	Fetal Lung	lung
20	chr1:154426400-154438000	Weak transcription	Psoas Muscle	Psoas
21	chr1:154426600-154434800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:154426600-154435400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:154426600-154435800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:154426600-154435800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:154426600-154435800	Weak transcription	Fetal Muscle Leg	muscle
26	chr1:154426600-154440600	Weak transcription	Brain Angular Gyrus	brain
27	chr1:154426800-154434400	Weak transcription	Hela-S3	cervix
28	chr1:154426800-154435200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:154426800-154435800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:154426800-154435800	Weak transcription	Osteobl	bone
31	chr1:154426800-154436000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:154426800-154441200	Weak transcription	Brain Substantia Nigra	brain
33	chr1:154426800-154442200	Weak transcription	HepG2	liver
34	chr1:154426800-154450000	Weak transcription	Fetal Intestine Small	intestine
35	chr1:154427000-154435400	Weak transcription	HMEC	breast
36	chr1:154427000-154435600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr1:154427400-154435000	Weak transcription	NHDF-Ad	bronchial
38	chr1:154427600-154436000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr1:154427800-154433000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr1:154427800-154434200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr1:154427800-154435600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:154427800-154435600	Weak transcription	NHEK	skin
43	chr1:154427800-154435800	Weak transcription	NHLF	lung
44	chr1:154427800-154436000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr1:154427800-154464800	Weak transcription	Ovary	ovary
46	chr1:154428600-154437600	Weak transcription	Gastric	stomach
47	chr1:154428800-154433000	Strong transcription	Colon Smooth Muscle	Colon
48	chr1:154428800-154433800	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr1:154429400-154436000	Weak transcription	Right Ventricle	heart
50	chr1:154429800-154446200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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