Variant report

Variant	rs1963170
Chromosome Location	chr1:78184433-78184434
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12402928	1.00[ASN][1000 genomes]
rs12409142	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12728967	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12741347	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12751064	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17381664	1.00[ASN][1000 genomes]
rs4949660	1.00[ASN][1000 genomes]
rs4949662	1.00[ASN][1000 genomes]
rs6678622	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription 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	34 gene(s)	inside rSNPs	diseases
2	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv870709	chr1:78016517-78198322	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv830303	chr1:78090824-78308765	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv1794082	chr1:78102426-78492221	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh 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	108 gene(s)	inside rSNPs	diseases
6	esv1796958	chr1:78138955-78267421	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	esv1798160	chr1:78149941-78267421	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
9	nsv508326	chr1:78184379-78234247	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78161000-78187400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:78168600-78186000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:78171400-78184600	Strong transcription	Rectal Mucosa Donor 31	rectum
4	chr1:78171400-78206600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:78171600-78199000	Strong transcription	Adipose Nuclei	Adipose
6	chr1:78171600-78207400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:78171800-78184600	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr1:78171800-78197600	Strong transcription	Duodenum Mucosa	Duodenum
9	chr1:78171800-78198000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:78171800-78200200	Strong transcription	Fetal Lung	lung
11	chr1:78171800-78205600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:78171800-78206800	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr1:78171800-78206800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:78171800-78206800	Strong transcription	Placenta	Placenta
15	chr1:78171800-78207000	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr1:78171800-78207200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr1:78172000-78197800	Strong transcription	Duodenum Smooth Muscle	Duodenum
18	chr1:78172000-78198800	Strong transcription	Primary T cells from cord blood	blood
19	chr1:78172000-78206000	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr1:78172200-78188200	Strong transcription	Fetal Muscle Trunk	muscle
21	chr1:78172200-78195800	Strong transcription	Fetal Thymus	thymus
22	chr1:78172200-78196200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr1:78172200-78197200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:78172200-78197800	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr1:78172200-78206600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:78172400-78197800	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr1:78172400-78200000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:78172400-78207600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr1:78172600-78186400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr1:78172600-78195600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:78172600-78198200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:78172600-78205000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:78172800-78184800	Strong transcription	Osteobl	bone
34	chr1:78173000-78184600	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr1:78173200-78186800	Weak transcription	A549	lung
36	chr1:78173200-78198400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr1:78173600-78184600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr1:78173800-78224400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr1:78174000-78194000	Weak transcription	Fetal Heart	heart
40	chr1:78174200-78207600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr1:78176400-78205200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr1:78176600-78187600	Weak transcription	NHEK	skin
43	chr1:78176800-78205800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr1:78178400-78186200	Weak transcription	HUVEC	blood vessel
45	chr1:78178600-78187400	Weak transcription	Aorta	Aorta
46	chr1:78178600-78187600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:78178600-78196200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:78179000-78187400	Weak transcription	Brain Germinal Matrix	brain
49	chr1:78179600-78184800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:78179600-78194600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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