Variant report

Variant	rs73250343
Chromosome Location	chr8:59531374-59531375
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:59531274..59532997-chr8:59558772..59560401,2	K562	blood:
2	chr8:59529012..59531542-chr8:59540953..59542706,2	K562	blood:
3	chr8:59531187..59532798-chr8:59569997..59572188,2	MCF-7	breast:
4	chr8:59530465..59533634-chr8:59535645..59538815,3	K562	blood:

Variant related genes	Relation type
ENSG00000035681	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10504257	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16923635	0.92[AMR][1000 genomes]
rs16923636	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4421339	0.91[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	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59104727	0.91[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	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7015870	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73240232	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73240235	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250333	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250339	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250347	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250349	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250352	0.91[AMR][1000 genomes]
rs7833097	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv890939	chr8:59471187-59544413	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1031537	chr8:59482949-59536971	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
4	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	chr8:59467400-59559400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:59498600-59548400	Weak transcription	Stomach Mucosa	stomach
3	chr8:59503000-59545400	Weak transcription	Esophagus	oesophagus
4	chr8:59507400-59561200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr8:59507600-59545400	Weak transcription	Gastric	stomach
6	chr8:59508000-59538800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:59508000-59545400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:59508200-59533800	Weak transcription	Small Intestine	intestine
9	chr8:59508200-59542200	Weak transcription	Aorta	Aorta
10	chr8:59508200-59542400	Weak transcription	Psoas Muscle	Psoas
11	chr8:59509000-59542200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr8:59509000-59543000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:59509000-59560400	Weak transcription	Brain Substantia Nigra	brain
14	chr8:59509800-59542400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:59510200-59542400	Weak transcription	Lung	lung
16	chr8:59510200-59554800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr8:59510400-59551000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr8:59510400-59570200	Weak transcription	Colonic Mucosa	Colon
19	chr8:59512000-59542200	Weak transcription	Right Ventricle	heart
20	chr8:59512200-59542200	Weak transcription	NH-A	brain
21	chr8:59512400-59540400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:59512800-59534600	Weak transcription	Placenta	Placenta
23	chr8:59513000-59533200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:59513000-59541600	Weak transcription	Brain Germinal Matrix	brain
25	chr8:59513000-59542000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr8:59513000-59561200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr8:59516000-59535400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:59520200-59535200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr8:59520200-59542200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr8:59520400-59533800	Weak transcription	Liver	Liver
31	chr8:59520400-59534600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr8:59520600-59535400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr8:59520600-59541600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr8:59520600-59554600	Weak transcription	HMEC	breast
35	chr8:59520800-59535400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr8:59521000-59542800	Weak transcription	Hela-S3	cervix
37	chr8:59521200-59533800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:59521400-59533400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr8:59521400-59533600	Weak transcription	Fetal Lung	lung
40	chr8:59521800-59531600	Weak transcription	Osteobl	bone
41	chr8:59521800-59535400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr8:59521800-59542200	Weak transcription	Colon Smooth Muscle	Colon
43	chr8:59521800-59542400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr8:59521800-59542400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr8:59522000-59570200	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr8:59522200-59532600	Weak transcription	Thymus	Thymus
47	chr8:59522200-59533200	Weak transcription	Fetal Intestine Large	intestine
48	chr8:59522200-59533600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr8:59522200-59535400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr8:59522200-59537400	Weak transcription	A549	lung

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