Variant report

Variant	rs17368950
Chromosome Location	chr1:77656887-77656888
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	chr1:77656179..77658700-chr1:77659686..77662553,2	K562	blood:

Variant related genes	Relation type
ENSG00000228187	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1010061	1.00[ASN][1000 genomes]
rs10443176	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10518445	1.00[ASN][1000 genomes]
rs11162275	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11162284	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11162287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11576574	1.00[ASN][1000 genomes]
rs12077763	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12090495	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12119019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120921	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12122553	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12123535	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126662	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12143529	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12562335	1.00[CEU][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1305486	1.00[ASN][1000 genomes]
rs1502525	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17100100	1.00[ASN][1000 genomes]
rs17100141	1.00[ASN][1000 genomes]
rs17100143	1.00[ASN][1000 genomes]
rs17100304	1.00[ASN][1000 genomes]
rs1827448	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1993266	1.00[ASN][1000 genomes]
rs2004962	1.00[ASN][1000 genomes]
rs41292260	1.00[ASN][1000 genomes]
rs41292264	1.00[ASN][1000 genomes]
rs4949772	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4949773	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4949778	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56666939	1.00[ASN][1000 genomes]
rs57267651	1.00[ASN][1000 genomes]
rs57389685	1.00[ASN][1000 genomes]
rs60792794	1.00[ASN][1000 genomes]
rs61782906	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6603937	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6696605	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72683932	1.00[ASN][1000 genomes]
rs72944757	1.00[ASN][1000 genomes]
rs73002568	1.00[ASN][1000 genomes]
rs73004429	1.00[ASN][1000 genomes]
rs73004430	1.00[ASN][1000 genomes]
rs73004434	1.00[ASN][1000 genomes]
rs7519485	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7544099	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7550325	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[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	nsv1003826	chr1:76965331-77656929	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv535006	chr1:76965331-77656929	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1006887	chr1:77566348-77698128	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv520629	chr1:77584846-77695854	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv525188	chr1:77655651-77695854	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77616200-77663200	Weak transcription	Brain Hippocampus Middle	brain
2	chr1:77626000-77662600	Weak transcription	Thymus	Thymus
3	chr1:77626000-77684200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:77626800-77668000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:77626800-77674800	Weak transcription	Ovary	ovary
6	chr1:77626800-77676200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:77630800-77660600	Weak transcription	Left Ventricle	heart
8	chr1:77631800-77660600	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr1:77638200-77662200	Weak transcription	Small Intestine	intestine
10	chr1:77643400-77669600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:77643600-77663000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr1:77643600-77672600	Weak transcription	Fetal Lung	lung
13	chr1:77643800-77674400	Weak transcription	Psoas Muscle	Psoas
14	chr1:77645600-77661600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:77646200-77660200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:77648000-77660800	Weak transcription	Spleen	Spleen
17	chr1:77648400-77684000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr1:77648800-77661400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr1:77649000-77679800	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr1:77649200-77672400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:77649600-77666600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr1:77649800-77661200	Weak transcription	Pancreas	Pancrea
23	chr1:77650200-77660600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:77650800-77657800	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr1:77650800-77668800	Weak transcription	Adipose Nuclei	Adipose
26	chr1:77650800-77672000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:77650800-77684200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr1:77651000-77660400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr1:77651000-77662600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr1:77651200-77660000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr1:77651200-77663200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr1:77651200-77668000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:77651800-77660600	Weak transcription	Lung	lung
34	chr1:77651800-77664800	Weak transcription	Gastric	stomach
35	chr1:77651800-77665800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr1:77652000-77662000	Weak transcription	Fetal Brain Male	brain
37	chr1:77652000-77662400	Weak transcription	Right Ventricle	heart
38	chr1:77652600-77683400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:77653000-77657400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr1:77653000-77658800	Weak transcription	Aorta	Aorta
41	chr1:77653000-77661800	Weak transcription	Stomach Smooth Muscle	stomach
42	chr1:77653200-77670800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:77653400-77659200	Weak transcription	Primary B cells from cord blood	blood
44	chr1:77653400-77667800	Weak transcription	NHDF-Ad	bronchial
45	chr1:77654000-77669600	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr1:77654800-77660600	Weak transcription	NHEK	skin
47	chr1:77655000-77673400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr1:77655200-77659600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:77655200-77659800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr1:77655200-77662400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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