Variant report

Variant	rs72715364
Chromosome Location	chr1:93605686-93605687
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:93604940..93607069-chr1:93611441..93613644,2	K562	blood:
2	chr1:93605569..93607505-chr1:93611441..93613636,2	K562	blood:
3	chr1:93603092..93605831-chr1:93645286..93647869,2	K562	blood:

Variant related genes	Relation type
ENSG00000117500	Chromatin interaction
ENSG00000122483	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1064797	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12404947	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12405666	0.97[EUR][1000 genomes]
rs12409621	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17131703	0.95[EUR][1000 genomes]
rs17131705	0.95[EUR][1000 genomes]
rs17131709	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17131710	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17386609	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2749734	0.92[EUR][1000 genomes]
rs2785602	0.92[EUR][1000 genomes]
rs2785605	0.92[EUR][1000 genomes]
rs2815419	0.92[EUR][1000 genomes]
rs2815423	0.92[EUR][1000 genomes]
rs2815424	0.94[EUR][1000 genomes]
rs41286823	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41292137	0.94[EUR][1000 genomes]
rs4240965	0.85[EUR][1000 genomes]
rs4347219	0.97[EUR][1000 genomes]
rs475120	0.95[EUR][1000 genomes]
rs488345	0.94[EUR][1000 genomes]
rs495580	0.94[EUR][1000 genomes]
rs500349	0.94[EUR][1000 genomes]
rs502651	0.83[EUR][1000 genomes]
rs519319	0.94[EUR][1000 genomes]
rs539544	0.92[EUR][1000 genomes]
rs548751	0.94[EUR][1000 genomes]
rs571439	0.95[EUR][1000 genomes]
rs574687	0.95[EUR][1000 genomes]
rs57992499	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs580828	0.92[EUR][1000 genomes]
rs60458375	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61433067	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6604042	0.95[EUR][1000 genomes]
rs66501175	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6689007	0.94[EUR][1000 genomes]
rs67002303	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6703169	0.91[EUR][1000 genomes]
rs67262037	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67337461	0.94[EUR][1000 genomes]
rs67395827	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67711178	0.94[EUR][1000 genomes]
rs67723709	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67768103	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67992203	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72715394	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72717318	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72717334	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72717337	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72717346	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72717352	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72717354	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72717374	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72719120	0.94[EUR][1000 genomes]
rs72955366	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72955388	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72959223	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72959288	0.94[EUR][1000 genomes]
rs72959296	0.91[EUR][1000 genomes]
rs797594	0.84[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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	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
3	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93565200-93625200	Weak transcription	Stomach Mucosa	stomach
2	chr1:93573400-93627000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr1:93573800-93609000	Strong transcription	Fetal Thymus	thymus
4	chr1:93574200-93609000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:93574600-93609000	Strong transcription	Dnd41	blood
6	chr1:93574600-93630200	Weak transcription	Right Ventricle	heart
7	chr1:93578800-93613600	Weak transcription	Psoas Muscle	Psoas
8	chr1:93578800-93620600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:93580000-93624000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:93580200-93643600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:93581200-93616800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr1:93582400-93620400	Weak transcription	Small Intestine	intestine
13	chr1:93582400-93642800	Weak transcription	Gastric	stomach
14	chr1:93583200-93628800	Weak transcription	Brain Angular Gyrus	brain
15	chr1:93583600-93613800	Weak transcription	Lung	lung
16	chr1:93583600-93623800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:93583600-93635400	Weak transcription	Pancreas	Pancrea
18	chr1:93585200-93609200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:93585800-93642200	Weak transcription	Esophagus	oesophagus
20	chr1:93586200-93623400	Weak transcription	Fetal Brain Male	brain
21	chr1:93586800-93621000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr1:93590200-93608600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:93591200-93607000	Strong transcription	Primary hematopoietic stem cells	blood
24	chr1:93591200-93612600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:93591400-93607000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr1:93591400-93616600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr1:93592000-93608800	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr1:93592000-93609200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr1:93592200-93609000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr1:93592400-93607000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:93592600-93606800	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr1:93592600-93606800	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr1:93592600-93607200	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr1:93592600-93608600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:93592600-93609000	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr1:93592600-93609000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:93593000-93614200	Weak transcription	Colon Smooth Muscle	Colon
38	chr1:93594400-93606800	Strong transcription	Primary B cells from peripheral blood	blood
39	chr1:93594400-93611400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:93595000-93609200	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr1:93595400-93612400	Weak transcription	Fetal Heart	heart
42	chr1:93595800-93609200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:93595800-93635600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr1:93596800-93606800	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr1:93597400-93625400	Weak transcription	Rectal Smooth Muscle	rectum
46	chr1:93598600-93608200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr1:93598800-93609200	Strong transcription	HSMM	muscle
48	chr1:93599200-93605800	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr1:93599800-93606600	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr1:93600000-93606000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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