Variant report

Variant	rs73240235
Chromosome Location	chr8:59560101-59560102
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:59558916..59561359-chr8:59595324..59597398,2	K562	blood:
2	chr8:59558916..59561724-chr8:59595324..59598145,3	K562	blood:
3	chr8:59553289..59555629-chr8:59558700..59560806,2	K562	blood:
4	chr8:59559156..59561715-chr8:59592316..59593867,2	K562	blood:
5	chr8:59531274..59532997-chr8:59558772..59560401,2	K562	blood:
6	chr8:59558665..59561623-chr8:59562018..59565926,5	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10504257	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16923635	0.84[AMR][1000 genomes]
rs16923636	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4421339	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55909077	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57773582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59104727	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59269342	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7001188	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7015870	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73240232	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250333	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250335	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250339	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250343	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250347	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250349	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250352	1.00[AMR][1000 genomes]
rs7833097	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv831325	chr8:59492580-59694443	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59507400-59561200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr8:59509000-59560400	Weak transcription	Brain Substantia Nigra	brain
3	chr8:59510400-59570200	Weak transcription	Colonic Mucosa	Colon
4	chr8:59513000-59561200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr8:59522000-59570200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:59535800-59561000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:59535800-59561000	Weak transcription	Small Intestine	intestine
8	chr8:59536200-59564000	Weak transcription	Fetal Brain Male	brain
9	chr8:59542800-59560800	Weak transcription	Fetal Brain Female	brain
10	chr8:59543200-59564000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr8:59543200-59570200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:59543200-59570200	Weak transcription	Fetal Kidney	kidney
13	chr8:59543400-59564000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr8:59543400-59564200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:59543400-59564200	Weak transcription	Right Ventricle	heart
16	chr8:59543400-59570000	Weak transcription	Brain Angular Gyrus	brain
17	chr8:59545600-59564000	Weak transcription	Brain Hippocampus Middle	brain
18	chr8:59546000-59561200	Weak transcription	Esophagus	oesophagus
19	chr8:59546200-59560200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr8:59546200-59561400	Weak transcription	Aorta	Aorta
21	chr8:59546200-59563800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr8:59547200-59570200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr8:59547600-59564000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr8:59551000-59560200	Weak transcription	Fetal Stomach	stomach
25	chr8:59551000-59560600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr8:59551000-59570400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr8:59551200-59560400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:59551200-59561200	Weak transcription	Placenta	Placenta
29	chr8:59551800-59560800	Weak transcription	Fetal Intestine Small	intestine
30	chr8:59552000-59561200	Weak transcription	Thymus	Thymus
31	chr8:59552600-59561000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr8:59552600-59570400	Weak transcription	Liver	Liver
33	chr8:59552800-59560800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr8:59552800-59561200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr8:59552800-59561200	Weak transcription	Fetal Intestine Large	intestine
36	chr8:59552800-59562200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr8:59552800-59563000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr8:59552800-59563200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr8:59552800-59564000	Weak transcription	Fetal Lung	lung
40	chr8:59553400-59561000	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr8:59554400-59570000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr8:59554600-59569600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr8:59554800-59562200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr8:59555000-59560800	Weak transcription	Primary B cells from peripheral blood	blood
45	chr8:59555200-59560600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:59555200-59561000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:59555200-59562400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr8:59555200-59564800	Weak transcription	NHLF	lung
49	chr8:59555200-59565000	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr8:59555400-59562600	Weak transcription	Primary T helper cells PMA-I stimulated	--

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