Variant report

Variant	rs72717318
Chromosome Location	chr1:93669348-93669349
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:93646277..93649734-chr1:93664673..93670683,6	K562	blood:
2	chr1:93558661..93560672-chr1:93667735..93669821,2	K562	blood:
3	chr1:93646277..93650015-chr1:93666888..93670680,4	K562	blood:
4	chr1:93663919..93665937-chr1:93669001..93672799,3	K562	blood:
5	chr1:93650348..93652669-chr1:93667602..93669955,2	K562	blood:

Variant related genes	Relation type
ENSG00000122483	Chromatin interaction
ENSG00000225297	Chromatin interaction
ENSG00000117500	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1064797	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12404947	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12405666	0.98[EUR][1000 genomes]
rs12409621	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17131703	0.91[EUR][1000 genomes]
rs17131705	0.91[EUR][1000 genomes]
rs17131709	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17131710	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17386609	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2749734	0.88[EUR][1000 genomes]
rs2785602	0.88[EUR][1000 genomes]
rs2785605	0.88[EUR][1000 genomes]
rs2815419	0.88[EUR][1000 genomes]
rs2815423	0.88[EUR][1000 genomes]
rs2815424	0.89[EUR][1000 genomes]
rs41286823	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs41292137	0.95[EUR][1000 genomes]
rs4240965	0.80[EUR][1000 genomes]
rs4347219	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs475120	0.91[EUR][1000 genomes]
rs488345	0.89[EUR][1000 genomes]
rs495580	0.89[EUR][1000 genomes]
rs500349	0.89[EUR][1000 genomes]
rs519319	0.89[EUR][1000 genomes]
rs539544	0.88[EUR][1000 genomes]
rs548751	0.89[EUR][1000 genomes]
rs571439	0.91[EUR][1000 genomes]
rs574687	0.91[EUR][1000 genomes]
rs57992499	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs580828	0.88[EUR][1000 genomes]
rs60458375	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61433067	0.92[EUR][1000 genomes]
rs6604042	0.91[EUR][1000 genomes]
rs66501175	0.95[EUR][1000 genomes]
rs6689007	0.89[EUR][1000 genomes]
rs67002303	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6703169	0.87[EUR][1000 genomes]
rs67262037	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67337461	0.95[EUR][1000 genomes]
rs67395827	0.95[EUR][1000 genomes]
rs67711178	0.89[EUR][1000 genomes]
rs67723709	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67768103	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67992203	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72715364	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72715394	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717334	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72717337	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72717346	0.94[EUR][1000 genomes]
rs72717352	0.95[EUR][1000 genomes]
rs72717354	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72717374	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72719120	0.95[EUR][1000 genomes]
rs72719185	0.81[EUR][1000 genomes]
rs72955366	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72955388	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72959223	0.95[EUR][1000 genomes]
rs72959288	0.95[EUR][1000 genomes]
rs72959296	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830614	chr1:93465978-93678700	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv830625	chr1:93566378-93735246	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93647000-93688000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:93647000-93688600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:93647000-93756400	Weak transcription	Gastric	stomach
4	chr1:93647200-93681200	Weak transcription	HUVEC	blood vessel
5	chr1:93647200-93684400	Weak transcription	NH-A	brain
6	chr1:93647200-93685000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr1:93647200-93707400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:93647200-93757600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:93647600-93670400	Weak transcription	Liver	Liver
10	chr1:93647600-93706600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:93648400-93672200	Weak transcription	A549	lung
12	chr1:93649000-93684800	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr1:93651000-93684800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr1:93651400-93678000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:93654200-93708400	Weak transcription	Esophagus	oesophagus
16	chr1:93654600-93708000	Weak transcription	Ovary	ovary
17	chr1:93655200-93674000	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:93656400-93686200	Weak transcription	Aorta	Aorta
19	chr1:93657000-93682000	Strong transcription	Dnd41	blood
20	chr1:93657600-93708400	Weak transcription	Left Ventricle	heart
21	chr1:93658600-93684800	Weak transcription	Primary T cells from cord blood	blood
22	chr1:93658800-93684400	Weak transcription	Osteobl	bone
23	chr1:93660600-93671000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:93660600-93705200	Weak transcription	Lung	lung
25	chr1:93660800-93669400	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr1:93660800-93685000	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr1:93661000-93674200	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr1:93661400-93708200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr1:93661800-93702800	Weak transcription	Fetal Heart	heart
30	chr1:93661800-93708200	Weak transcription	Fetal Brain Female	brain
31	chr1:93663000-93673400	Weak transcription	Hela-S3	cervix
32	chr1:93663400-93669800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr1:93663600-93705600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr1:93664000-93672800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:93664600-93669600	Strong transcription	Primary B cells from peripheral blood	blood
36	chr1:93665400-93684200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr1:93665400-93684400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr1:93665400-93685000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr1:93665400-93688800	Weak transcription	NHLF	lung
40	chr1:93665400-93708400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:93665400-93708400	Weak transcription	Spleen	Spleen
42	chr1:93665600-93673800	Weak transcription	Thymus	Thymus
43	chr1:93665600-93683000	Weak transcription	Fetal Muscle Leg	muscle
44	chr1:93665600-93697600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr1:93665600-93702600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:93665600-93707800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr1:93665800-93669800	Strong transcription	HMEC	breast
48	chr1:93665800-93674000	Weak transcription	Fetal Stomach	stomach
49	chr1:93665800-93684200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr1:93665800-93684400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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