Variant report

Variant	rs72682688
Chromosome Location	chr8:110326395-110326396
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:110325503..110327791-chr8:110330957..110333758,2	K562	blood:
2	chr8:110324585..110327409-chr8:110346029..110347952,2	K562	blood:

Variant related genes	Relation type
ENSG00000120533	Chromatin interaction
ENSG00000120526	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs16879261	0.88[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs16879277	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16879288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16879296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16879302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16879319	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1993593	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4489305	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58645331	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59395166	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs59606309	0.88[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs59943608	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs60785810	0.88[ASN][1000 genomes]
rs61245151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61479312	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs66514810	0.88[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs66540106	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs66582255	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66595116	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs66597282	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs66850941	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66894192	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs66993652	0.88[ASN][1000 genomes]
rs67013559	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs67022633	0.88[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs67131445	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs67145203	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67220317	0.80[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs67285523	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs67650612	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67741834	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs67743002	0.84[AFR][1000 genomes]
rs67793872	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs67919153	0.88[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs67974558	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs68134891	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6990184	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6994530	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs72680756	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs72682635	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73303253	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs73303256	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73311376	0.88[ASN][1000 genomes]
rs73311383	0.82[ASN][1000 genomes]
rs73311385	0.88[ASN][1000 genomes]
rs73311386	0.88[ASN][1000 genomes]
rs73311387	0.88[ASN][1000 genomes]
rs73311394	0.88[ASN][1000 genomes]
rs73311400	0.88[ASN][1000 genomes]
rs73313204	0.88[ASN][1000 genomes]
rs7817013	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7823896	0.88[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	nsv891273	chr8:110219735-110475874	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv891279	chr8:110268104-110450092	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110236600-110344200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:110284400-110344400	Weak transcription	Fetal Lung	lung
3	chr8:110288600-110344200	Weak transcription	Ovary	ovary
4	chr8:110292000-110333200	Weak transcription	HepG2	liver
5	chr8:110293000-110343600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:110307600-110333000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:110312000-110344000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:110312200-110342800	Weak transcription	Left Ventricle	heart
9	chr8:110312400-110327200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr8:110312400-110344200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:110318200-110331600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:110318400-110344000	Weak transcription	NHLF	lung
13	chr8:110318600-110332800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr8:110318600-110342800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:110318800-110335200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr8:110319400-110344200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr8:110321000-110327400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr8:110321800-110327400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr8:110322000-110328800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr8:110322000-110344200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:110322800-110327400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:110322800-110331600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr8:110323000-110326400	Weak transcription	Osteobl	bone
24	chr8:110323200-110335400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr8:110323200-110340000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr8:110323600-110327400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:110323600-110331000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:110323600-110332400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:110323600-110333000	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr8:110323600-110335400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr8:110324000-110331600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr8:110324000-110335600	Weak transcription	Thymus	Thymus
33	chr8:110324000-110345400	Weak transcription	Aorta	Aorta
34	chr8:110324200-110331600	Weak transcription	Primary B cells from peripheral blood	blood
35	chr8:110324200-110340400	Weak transcription	K562	blood
36	chr8:110324400-110327400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr8:110324600-110328800	Weak transcription	Colon Smooth Muscle	Colon
38	chr8:110324800-110328800	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr8:110324800-110344000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr8:110325200-110331400	Weak transcription	Fetal Muscle Leg	muscle
41	chr8:110325200-110331600	Weak transcription	Primary B cells from cord blood	blood
42	chr8:110325200-110333000	Weak transcription	Dnd41	blood
43	chr8:110325200-110341400	Weak transcription	HSMM	muscle
44	chr8:110325200-110342000	Weak transcription	A549	lung
45	chr8:110325200-110344400	Weak transcription	Pancreas	Pancrea
46	chr8:110325200-110344400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr8:110325200-110344400	Weak transcription	Small Intestine	intestine
48	chr8:110325200-110344800	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr8:110325400-110337400	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr8:110325400-110344200	Weak transcription	Fetal Heart	heart

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