Variant report

Variant	rs72865099
Chromosome Location	chr3:43625293-43625294
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:43624986..43626913-chr3:43630148..43631956,2	K562	blood:
2	chr3:43613388..43616334-chr3:43623440..43625742,2	K562	blood:
3	chr3:43624986..43627370-chr3:43630211..43632128,5	K562	blood:
4	chr3:43619681..43622801-chr3:43623048..43626264,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17075829	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1905181	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57790719	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57838122	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60329676	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6763411	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6769241	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6800306	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6803386	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72865044	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72865091	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72865095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72865102	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72866821	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72866837	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72866845	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7628239	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7642287	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[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	nsv428738	chr3:43491435-43651168	Strong transcription Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv834673	chr3:43622985-43799876	Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43558600-43625600	Weak transcription	Lung	lung
2	chr3:43574800-43662400	Weak transcription	Right Ventricle	heart
3	chr3:43577600-43625400	Weak transcription	HUVEC	blood vessel
4	chr3:43580600-43647600	Weak transcription	Brain Angular Gyrus	brain
5	chr3:43584000-43632800	Weak transcription	Small Intestine	intestine
6	chr3:43587000-43647200	Weak transcription	Fetal Kidney	kidney
7	chr3:43587200-43632000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr3:43587800-43634000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr3:43589000-43648400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr3:43589600-43625600	Weak transcription	Brain Substantia Nigra	brain
11	chr3:43590600-43636400	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr3:43595000-43626000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:43595000-43632600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr3:43595800-43632800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr3:43596600-43632000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr3:43596600-43632600	Weak transcription	HSMMtube	muscle
17	chr3:43597200-43625800	Weak transcription	Spleen	Spleen
18	chr3:43597200-43628800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr3:43601600-43631800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:43602000-43632600	Weak transcription	Esophagus	oesophagus
21	chr3:43602600-43625600	Weak transcription	Pancreas	Pancrea
22	chr3:43602600-43632800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr3:43607600-43627000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr3:43611400-43625400	Weak transcription	A549	lung
25	chr3:43614000-43632600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr3:43614000-43632600	Weak transcription	Fetal Intestine Small	intestine
27	chr3:43614400-43632400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr3:43614400-43632600	Weak transcription	Gastric	stomach
29	chr3:43614600-43653800	Weak transcription	HepG2	liver
30	chr3:43616400-43625800	Weak transcription	Hela-S3	cervix
31	chr3:43616800-43625600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr3:43616800-43633200	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr3:43618400-43625600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr3:43618400-43625600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr3:43618400-43626000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr3:43618400-43626000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr3:43618400-43639400	Weak transcription	Liver	Liver
38	chr3:43618600-43625600	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr3:43618600-43625600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr3:43618600-43625600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr3:43618600-43625600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr3:43618600-43627000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr3:43618600-43632600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr3:43618600-43632600	Weak transcription	Adipose Nuclei	Adipose
45	chr3:43618600-43632600	Weak transcription	Fetal Intestine Large	intestine
46	chr3:43618600-43632600	Weak transcription	Placenta	Placenta
47	chr3:43618600-43633000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr3:43618600-43644000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr3:43618600-43649600	Weak transcription	Brain Hippocampus Middle	brain
50	chr3:43618600-43654400	Weak transcription	Colonic Mucosa	Colon

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