Variant report

Variant	rs72836642
Chromosome Location	chr17:38378624-38378625
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:38374106..38377261-chr17:38378307..38382923,6	K562	blood:
2	chr17:38373137..38377221-chr17:38377340..38382604,9	K562	blood:

Variant related genes	Relation type
ENSG00000171475	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs11078939	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11078940	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12103921	0.83[ASN][1000 genomes]
rs12944717	0.89[ASN][1000 genomes]
rs13706	0.89[EUR][1000 genomes]
rs16965687	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1807273	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2280400	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs28537537	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28663197	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34223321	0.84[ASN][1000 genomes]
rs3744806	0.84[ASN][1000 genomes]
rs4077125	0.90[ASN][1000 genomes]
rs45567834	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4566234	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55656553	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs55767073	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55772196	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs55835834	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55991953	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs56013073	0.84[ASN][1000 genomes]
rs56029626	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58822685	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59018914	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59490243	0.90[ASN][1000 genomes]
rs59861136	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60220138	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61024420	0.87[ASN][1000 genomes]
rs6503539	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67597966	0.90[ASN][1000 genomes]
rs72836633	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72836634	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72836635	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72836636	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72836639	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72836640	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72836641	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72836648	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72836651	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72836653	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72836656	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72836660	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7359537	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73983025	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7405635	0.81[ASN][1000 genomes]
rs8073925	0.86[ASN][1000 genomes]
rs8078204	0.93[ASN][1000 genomes]
rs8078226	0.90[ASN][1000 genomes]
rs8080931	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8082192	0.84[ASN][1000 genomes]
rs9891694	0.90[ASN][1000 genomes]
rs9891718	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9892404	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9892946	0.90[ASN][1000 genomes]
rs9892973	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9893520	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9894625	0.87[EUR][1000 genomes]
rs9895163	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9897092	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9901109	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9904021	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9904270	0.80[EUR][1000 genomes]
rs9906409	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9907683	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9908034	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9908257	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9908354	0.85[ASN][1000 genomes]
rs9910197	0.90[ASN][1000 genomes]
rs9910788	0.84[ASN][1000 genomes]
rs9911840	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9912082	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9914531	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9916460	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9916782	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833444	chr17:38242823-38437280	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv525796	chr17:38306365-38405037	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv3381533	chr17:38377176-38379374	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv3507998	chr17:38377409-38380022	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv3507999	chr17:38377409-38380022	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv2430508	chr17:38377416-38378912	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv3348129	chr17:38377742-38378680	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38376600-38378800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr17:38376600-38380000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:38376600-38380200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr17:38376600-38380800	Weak transcription	Colon Smooth Muscle	Colon
5	chr17:38376600-38380800	Weak transcription	Fetal Lung	lung
6	chr17:38376600-38389200	Weak transcription	Esophagus	oesophagus
7	chr17:38376600-38389800	Weak transcription	Colonic Mucosa	Colon
8	chr17:38376600-38389800	Weak transcription	Ovary	ovary
9	chr17:38376600-38390400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr17:38376600-38392200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr17:38376600-38393200	Weak transcription	Fetal Heart	heart
12	chr17:38376600-38400400	Weak transcription	Psoas Muscle	Psoas
13	chr17:38376600-38412400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr17:38376600-38416800	Weak transcription	Aorta	Aorta
15	chr17:38376800-38379600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr17:38376800-38380200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr17:38376800-38380200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr17:38376800-38380200	Weak transcription	K562	blood
19	chr17:38376800-38380200	Weak transcription	NH-A	brain
20	chr17:38376800-38380200	Weak transcription	Osteobl	bone
21	chr17:38376800-38380400	Weak transcription	NHLF	lung
22	chr17:38376800-38380600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr17:38376800-38380800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr17:38376800-38380800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr17:38376800-38380800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr17:38376800-38380800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr17:38376800-38380800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr17:38376800-38380800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr17:38376800-38380800	Weak transcription	Right Ventricle	heart
30	chr17:38376800-38380800	Weak transcription	HSMM	muscle
31	chr17:38376800-38380800	Weak transcription	NHDF-Ad	bronchial
32	chr17:38376800-38381000	Weak transcription	Right Atrium	heart
33	chr17:38376800-38381200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr17:38376800-38381800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr17:38376800-38382800	Weak transcription	Fetal Intestine Large	intestine
36	chr17:38376800-38383000	Weak transcription	Fetal Intestine Small	intestine
37	chr17:38376800-38383000	Weak transcription	Thymus	Thymus
38	chr17:38376800-38383800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr17:38376800-38386800	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr17:38376800-38387200	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr17:38376800-38388600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr17:38376800-38389200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr17:38376800-38389200	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr17:38376800-38389200	Weak transcription	HUVEC	blood vessel
45	chr17:38376800-38389600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr17:38376800-38389600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr17:38376800-38390600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr17:38376800-38391400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr17:38376800-38391600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr17:38376800-38393600	Weak transcription	HMEC	breast

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