Variant report

Variant	rs10911680
Chromosome Location	chr1:185103014-185103015
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:185099798..185103088-chr1:185104012..185107773,3	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10737256	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10752945	0.92[ASN][1000 genomes]
rs10797999	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10911678	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11588646	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12025737	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12030554	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12081098	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12566975	0.99[ASN][1000 genomes]
rs1322646	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1407555	0.98[ASN][1000 genomes]
rs1407556	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1407557	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1884447	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2057222	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2146329	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3753569	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4549995	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6424971	0.99[ASN][1000 genomes]
rs6674490	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6700484	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7519019	0.92[ASN][1000 genomes]
rs7547420	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[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	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548396	chr1:185038104-185151378	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv521613	chr1:185071831-185171869	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv872588	chr1:185081903-185117688	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185056200-185124200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr1:185059000-185124800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:185068400-185110200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:185073600-185115000	Weak transcription	NH-A	brain
5	chr1:185082600-185125400	Weak transcription	Spleen	Spleen
6	chr1:185084200-185103400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:185084200-185124400	Weak transcription	Right Ventricle	heart
8	chr1:185084600-185104200	Weak transcription	Pancreas	Pancrea
9	chr1:185085000-185121400	Weak transcription	NHEK	skin
10	chr1:185085400-185125000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:185086000-185107000	Strong transcription	Liver	Liver
12	chr1:185086000-185120200	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr1:185087000-185125000	Weak transcription	Gastric	stomach
14	chr1:185087600-185117000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr1:185087800-185104000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:185088000-185107800	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr1:185088200-185120600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:185088600-185106400	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr1:185089400-185124400	Weak transcription	Colonic Mucosa	Colon
20	chr1:185089600-185121400	Weak transcription	Stomach Mucosa	stomach
21	chr1:185090000-185103800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr1:185091200-185121400	Weak transcription	Fetal Heart	heart
23	chr1:185093800-185103600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:185093800-185113400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr1:185093800-185117400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:185094000-185110800	Weak transcription	Brain Angular Gyrus	brain
27	chr1:185094000-185113000	Weak transcription	Colon Smooth Muscle	Colon
28	chr1:185094200-185116600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr1:185094200-185118400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr1:185096600-185121400	Weak transcription	Hela-S3	cervix
31	chr1:185097600-185104000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr1:185098600-185103200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:185100000-185110800	Weak transcription	NHLF	lung
34	chr1:185100400-185105600	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr1:185100400-185106400	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr1:185100600-185103200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:185100800-185105800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr1:185100800-185111200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:185101000-185103200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:185101000-185103600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:185101000-185103600	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr1:185101000-185103600	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr1:185101000-185105400	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr1:185101000-185105600	Strong transcription	Thymus	Thymus
45	chr1:185101000-185106200	Strong transcription	Duodenum Mucosa	Duodenum
46	chr1:185101000-185121000	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr1:185101200-185103200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:185101200-185103200	Strong transcription	Rectal Smooth Muscle	rectum
49	chr1:185101200-185104200	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr1:185101200-185106600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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