Variant report

Variant	rs12680935
Chromosome Location	chr8:121480400-121480401
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121474578..121477063-chr8:121479242..121481717,3	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11776121	0.84[ASN][1000 genomes]
rs11778778	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781130	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781698	0.99[ASN][1000 genomes]
rs11786027	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11989221	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11994578	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12675851	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12678944	0.94[ASN][1000 genomes]
rs34162236	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35511242	0.95[ASN][1000 genomes]
rs35761432	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35895310	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4870728	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4870730	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55695515	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57481340	0.97[ASN][1000 genomes]
rs59967069	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469931	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991936	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7004427	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7006059	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7006363	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7016084	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7821312	0.85[ASN][1000 genomes]
rs7825296	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7826746	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7835199	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7839548	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891420	chr8:121194900-121561369	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1033386	chr8:121369943-121501239	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv470235	chr8:121437222-121526747	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv519152	chr8:121458457-121571266	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121458000-121480800	Weak transcription	Lung	lung
2	chr8:121458000-121480800	Weak transcription	Pancreas	Pancrea
3	chr8:121458000-121510400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:121458200-121480600	Weak transcription	Left Ventricle	heart
5	chr8:121458200-121483000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:121458200-121505200	Weak transcription	Placenta	Placenta
7	chr8:121458400-121480600	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:121458400-121481800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr8:121458400-121482600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr8:121458400-121482800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr8:121458400-121484400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr8:121458400-121484600	Weak transcription	Small Intestine	intestine
13	chr8:121458400-121485400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:121458400-121488000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:121458400-121490200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr8:121458400-121501000	Weak transcription	Ovary	ovary
17	chr8:121458600-121480800	Weak transcription	Fetal Intestine Large	intestine
18	chr8:121458600-121482800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr8:121458600-121483400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr8:121458600-121484000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr8:121458600-121484000	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr8:121458600-121484000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr8:121458600-121484200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr8:121458600-121484400	Weak transcription	Brain Substantia Nigra	brain
25	chr8:121458600-121486200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr8:121458600-121487200	Weak transcription	Fetal Brain Female	brain
27	chr8:121458600-121504200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr8:121458600-121516400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr8:121458800-121483200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:121458800-121484000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr8:121458800-121484800	Weak transcription	Adipose Nuclei	Adipose
32	chr8:121458800-121489000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr8:121458800-121491000	Weak transcription	HMEC	breast
34	chr8:121458800-121504000	Weak transcription	Fetal Heart	heart
35	chr8:121458800-121510200	Weak transcription	Brain Germinal Matrix	brain
36	chr8:121458800-121510400	Weak transcription	NHLF	lung
37	chr8:121458800-121539000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:121459000-121485600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:121459000-121485600	Weak transcription	K562	blood
40	chr8:121459000-121486000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr8:121459000-121528600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:121459600-121482800	Weak transcription	A549	lung
43	chr8:121459600-121484800	Weak transcription	GM12878-XiMat	blood
44	chr8:121461000-121491000	Weak transcription	Primary hematopoietic stem cells	blood
45	chr8:121464200-121480600	Weak transcription	Thymus	Thymus
46	chr8:121464800-121483000	Weak transcription	Fetal Kidney	kidney
47	chr8:121467000-121484400	Weak transcription	HepG2	liver
48	chr8:121467000-121488000	Weak transcription	HSMM	muscle
49	chr8:121467600-121481400	Weak transcription	Right Ventricle	heart
50	chr8:121468600-121482000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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