Variant report

Variant	rs12756698
Chromosome Location	chr1:93162800-93162801
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93154026..93155990-chr1:93160380..93162982,2	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs11164803	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11164814	0.83[EUR][1000 genomes]
rs11164816	0.83[EUR][1000 genomes]
rs11577426	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11578004	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11578098	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11581705	0.83[EUR][1000 genomes]
rs11583778	0.81[EUR][1000 genomes]
rs11585590	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11588545	0.83[EUR][1000 genomes]
rs11589122	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11589660	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11591094	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11800409	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11800771	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11800848	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11803097	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11805007	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11805229	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11805698	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11807962	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11808092	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11809055	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11809700	0.94[EUR][1000 genomes]
rs11810217	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12731107	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12733238	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12738833	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12743005	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12743520	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12746893	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12749480	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12749786	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12756786	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1333743	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1415296	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2051841	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34202284	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34221961	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34231012	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34250288	0.86[EUR][1000 genomes]
rs34288890	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34305407	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34343030	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34734076	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34761380	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34812295	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34843292	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35038369	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35241270	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35311203	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35435370	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35526187	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35612297	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35699160	0.86[EUR][1000 genomes]
rs35705463	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35901796	0.87[EUR][1000 genomes]
rs36099538	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36114576	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3790450	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4642892	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56044027	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59864761	0.83[EUR][1000 genomes]
rs67026262	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67646822	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67876779	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs68160001	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71652503	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72724515	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72724555	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72724574	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724586	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72724587	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830603	chr1:93003657-93172206	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv1794348	chr1:93090476-93192932	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv1802611	chr1:93090476-93219907	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93053600-93166200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:93098400-93205400	Weak transcription	NHLF	lung
3	chr1:93101600-93163600	Weak transcription	Colonic Mucosa	Colon
4	chr1:93120000-93171400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:93121600-93166000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr1:93122000-93163200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr1:93122800-93169400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:93123400-93176200	Weak transcription	Psoas Muscle	Psoas
9	chr1:93123600-93166800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:93123600-93178800	Weak transcription	Aorta	Aorta
11	chr1:93123600-93213400	Weak transcription	Gastric	stomach
12	chr1:93132000-93164600	Weak transcription	Pancreas	Pancrea
13	chr1:93136000-93164600	Weak transcription	NHDF-Ad	bronchial
14	chr1:93142400-93171000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:93146400-93164800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:93146600-93175600	Weak transcription	NHEK	skin
17	chr1:93148000-93166800	Weak transcription	K562	blood
18	chr1:93148600-93171000	Weak transcription	Hela-S3	cervix
19	chr1:93152600-93167000	Weak transcription	Primary T cells from cord blood	blood
20	chr1:93153200-93165000	Strong transcription	Liver	Liver
21	chr1:93153400-93170200	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr1:93154000-93167600	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr1:93154400-93166000	Weak transcription	Fetal Heart	heart
24	chr1:93155800-93213400	Weak transcription	Lung	lung
25	chr1:93156200-93165200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:93156200-93172800	Weak transcription	HepG2	liver
27	chr1:93156200-93174000	Weak transcription	A549	lung
28	chr1:93156800-93170800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr1:93157800-93163800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:93157800-93171000	Weak transcription	Stomach Mucosa	stomach
31	chr1:93157800-93175600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr1:93158200-93164400	Weak transcription	HUVEC	blood vessel
33	chr1:93158200-93169400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr1:93158600-93163800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:93159000-93174800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr1:93159200-93163400	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr1:93159200-93164600	Weak transcription	Fetal Muscle Leg	muscle
38	chr1:93160800-93163000	Weak transcription	Brain Substantia Nigra	brain
39	chr1:93160800-93163200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:93160800-93164600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:93160800-93165000	Weak transcription	Brain Anterior Caudate	brain
42	chr1:93160800-93166000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr1:93160800-93166800	Weak transcription	Osteobl	bone
44	chr1:93160800-93170600	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr1:93160800-93171000	Weak transcription	NH-A	brain
46	chr1:93160800-93174000	Weak transcription	Brain Angular Gyrus	brain
47	chr1:93160800-93175200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:93160800-93175200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr1:93160800-93175200	Weak transcription	HSMM	muscle
50	chr1:93160800-93177000	Weak transcription	Ovary	ovary

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