Variant report

Variant	rs72961373
Chromosome Location	chr1:93937880-93937881
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	chr1:93937413..93939936-chr1:93941729..93943394,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11164950	1.00[EUR][1000 genomes]
rs1593513	0.82[ASN][1000 genomes]
rs1593514	0.82[ASN][1000 genomes]
rs1593515	0.82[ASN][1000 genomes]
rs1863500	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs236325	1.00[EUR][1000 genomes]
rs236327	1.00[EUR][1000 genomes]
rs236328	1.00[EUR][1000 genomes]
rs236334	1.00[EUR][1000 genomes]
rs237424	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs237426	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs237427	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs237428	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs237429	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs237430	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2449377	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2493642	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2493643	0.89[ASN][1000 genomes]
rs2554841	1.00[ASN][1000 genomes]
rs2624438	1.00[ASN][1000 genomes]
rs2818968	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4475764	0.82[ASN][1000 genomes]
rs57438388	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57440609	0.82[ASN][1000 genomes]
rs57453256	0.82[ASN][1000 genomes]
rs57974365	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs58212333	0.88[ASN][1000 genomes]
rs58430978	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58591926	0.82[ASN][1000 genomes]
rs59039419	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60515224	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60717381	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61096581	0.82[ASN][1000 genomes]
rs61231069	0.82[ASN][1000 genomes]
rs6657187	0.82[ASN][1000 genomes]
rs72961357	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72961366	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72961379	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72961386	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72961389	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7547495	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7553492	1.00[EUR][1000 genomes]
rs7554661	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871640	chr1:93807122-93953469	Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93920000-93943800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:93921200-93939800	Weak transcription	Right Ventricle	heart
3	chr1:93922600-93944000	Weak transcription	Gastric	stomach
4	chr1:93927600-93943800	Weak transcription	Pancreas	Pancrea
5	chr1:93929000-93946400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:93930600-93943600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:93933400-93943800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:93934200-93939000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:93934200-93943600	Weak transcription	Fetal Intestine Small	intestine
10	chr1:93934200-93943800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:93936400-93938000	Enhancers	A549	lung
12	chr1:93936600-93938000	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr1:93936600-93938000	Enhancers	HUVEC	blood vessel
14	chr1:93936800-93938000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr1:93936800-93938000	Enhancers	Liver	Liver
16	chr1:93936800-93938000	Enhancers	Hela-S3	cervix
17	chr1:93936800-93938000	Enhancers	NH-A	brain
18	chr1:93936800-93938200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr1:93937000-93938000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:93937000-93938000	Enhancers	Osteobl	bone
21	chr1:93937200-93938000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:93937200-93938000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:93937200-93938000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:93937200-93939200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:93937400-93938000	Enhancers	Adipose Nuclei	Adipose
26	chr1:93937400-93938400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr1:93937400-93939000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr1:93937400-93939000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:93937400-93939200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr1:93937400-93939200	Weak transcription	Left Ventricle	heart
31	chr1:93937400-93939400	Weak transcription	Lung	lung
32	chr1:93937600-93938000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr1:93937600-93938000	Enhancers	Fetal Kidney	kidney
34	chr1:93937600-93938800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr1:93937600-93939600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr1:93937600-93943800	Weak transcription	HepG2	liver
37	chr1:93937600-93954800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:93937800-93938800	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr1:93937800-93939800	Weak transcription	Fetal Lung	lung
40	chr1:93937800-93940000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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