Variant report

Variant	rs17878454
Chromosome Location	chr1:92164876-92164877
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:92161234..92163653-chr1:92164578..92167182,3	K562	blood:
2	chr1:92162419..92166265-chr1:92170255..92173059,5	K562	blood:
3	chr1:92162419..92165412-chr1:92170320..92173271,4	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11165293	0.95[ASN][1000 genomes]
rs11165294	0.95[ASN][1000 genomes]
rs12567680	0.81[ASN][1000 genomes]
rs17879478	0.95[ASN][1000 genomes]
rs2038931	0.95[ASN][1000 genomes]
rs2391026	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2893178	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3767576	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4233430	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4650272	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72714426	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7514724	0.95[ASN][1000 genomes]
rs7519139	0.92[ASN][1000 genomes]
rs7541617	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv2763581	chr1:92068967-92203803	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv1014990	chr1:92084142-92206674	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv1010179	chr1:92140209-92655952	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv535030	chr1:92140209-92655952	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription 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 miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92149000-92170000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:92149400-92172800	Weak transcription	Esophagus	oesophagus
3	chr1:92149600-92166000	Weak transcription	NHEK	skin
4	chr1:92151200-92172800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:92152600-92184200	Strong transcription	HepG2	liver
6	chr1:92153000-92197000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:92155400-92178800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:92155600-92178800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:92155800-92171600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:92155800-92191200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr1:92156000-92172800	Weak transcription	Gastric	stomach
12	chr1:92156200-92172800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr1:92156200-92177800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:92159000-92173600	Weak transcription	Fetal Kidney	kidney
15	chr1:92159400-92172800	Weak transcription	Aorta	Aorta
16	chr1:92159400-92173400	Weak transcription	Brain Substantia Nigra	brain
17	chr1:92159800-92171800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:92159800-92172800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:92159800-92172800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr1:92159800-92183800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:92161200-92165200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr1:92161600-92165400	Enhancers	Adipose Nuclei	Adipose
23	chr1:92162000-92166800	Weak transcription	Liver	Liver
24	chr1:92162200-92166200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:92162400-92166400	Enhancers	Ovary	ovary
26	chr1:92162400-92167800	Enhancers	NHLF	lung
27	chr1:92162600-92165800	Weak transcription	A549	lung
28	chr1:92162600-92172600	Weak transcription	Colon Smooth Muscle	Colon
29	chr1:92162800-92166000	Weak transcription	HUVEC	blood vessel
30	chr1:92163000-92165400	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr1:92163000-92165400	Enhancers	K562	blood
32	chr1:92163000-92167200	Weak transcription	Psoas Muscle	Psoas
33	chr1:92163200-92165600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:92163200-92165600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:92163200-92165600	Enhancers	Osteobl	bone
36	chr1:92163200-92167200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr1:92163200-92167800	Enhancers	Muscle Satellite Cultured Cells	--
38	chr1:92163200-92172800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr1:92163200-92172800	Weak transcription	Spleen	Spleen
40	chr1:92163200-92176800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr1:92163400-92165200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:92163400-92165600	Enhancers	Primary T cells fromperipheralblood	blood
43	chr1:92163400-92165800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:92163400-92166400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr1:92163400-92169800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:92163400-92170400	Weak transcription	Left Ventricle	heart
47	chr1:92163400-92172600	Weak transcription	Fetal Intestine Large	intestine
48	chr1:92163800-92165200	Weak transcription	Placenta	Placenta
49	chr1:92163800-92167000	Enhancers	NHDF-Ad	bronchial
50	chr1:92163800-92172200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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