Variant report

Variant	rs1322936
Chromosome Location	chr1:78957740-78957741
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12088246	0.83[LWK][hapmap]
rs1265657	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1265663	0.81[LWK][hapmap];1.00[AMR][1000 genomes]
rs1322930	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1322932	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1333979	1.00[AMR][1000 genomes]
rs1412846	1.00[AMR][1000 genomes]
rs17101751	1.00[AMR][1000 genomes]
rs17101783	1.00[AMR][1000 genomes]
rs494131	1.00[AMR][1000 genomes]
rs559854	1.00[AMR][1000 genomes]
rs564407	1.00[AMR][1000 genomes]
rs569846	1.00[AMR][1000 genomes]
rs581338	1.00[AMR][1000 genomes]
rs599583	1.00[AMR][1000 genomes]
rs601137	1.00[AMR][1000 genomes]
rs602865	1.00[AMR][1000 genomes]
rs640003	1.00[AMR][1000 genomes]
rs645528	1.00[AMR][1000 genomes]
rs663485	1.00[AMR][1000 genomes]
rs676130	1.00[AMR][1000 genomes]
rs689110	1.00[AMR][1000 genomes]
rs7516567	0.92[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv870807	chr1:78867347-79032598	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78956200-78957800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
2	chr1:78956200-78957800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
3	chr1:78956200-78957800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr1:78956200-78957800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:78956200-78957800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
6	chr1:78956200-78957800	Active TSS	HSMMtube	muscle
7	chr1:78956200-78957800	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
8	chr1:78956200-78958000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr1:78956200-78958000	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr1:78956200-78958000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
11	chr1:78956200-78958000	Active TSS	NHLF	lung
12	chr1:78956200-78958400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:78956200-78958400	Active TSS	Rectal Mucosa Donor 31	rectum
14	chr1:78956200-78958400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
15	chr1:78956200-78958800	Active TSS	Colon Smooth Muscle	Colon
16	chr1:78956200-78958800	Active TSS	Rectal Smooth Muscle	rectum
17	chr1:78956200-78961400	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr1:78956400-78957800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
19	chr1:78956400-78957800	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:78956400-78957800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:78956400-78957800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:78956400-78957800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:78956400-78957800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
24	chr1:78956400-78957800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:78956400-78957800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
26	chr1:78956400-78957800	Active TSS	Ovary	ovary
27	chr1:78956400-78957800	Bivalent/Poised TSS	NHEK	skin
28	chr1:78956400-78958000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:78956400-78958000	Active TSS	Colonic Mucosa	Colon
30	chr1:78956400-78958000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
31	chr1:78956400-78958200	Active TSS	NHDF-Ad	bronchial
32	chr1:78956600-78957800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
33	chr1:78956600-78957800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
34	chr1:78956600-78957800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:78956600-78957800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:78956600-78957800	Active TSS	Brain Angular Gyrus	brain
37	chr1:78956600-78957800	Active TSS	Brain Anterior Caudate	brain
38	chr1:78956600-78957800	Flanking Active TSS	Pancreas	Pancrea
39	chr1:78956600-78957800	Active TSS	Osteobl	bone
40	chr1:78956600-78958200	Active TSS	Stomach Smooth Muscle	stomach
41	chr1:78956800-78957800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr1:78957000-78957800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
43	chr1:78957000-78957800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
44	chr1:78957000-78957800	Active TSS	Right Atrium	heart
45	chr1:78957200-78958000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:78957400-78957800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:78957400-78957800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
48	chr1:78957400-78957800	Flanking Active TSS	Fetal Brain Female	brain
49	chr1:78957400-78957800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
50	chr1:78957400-78957800	Enhancers	Placenta Amnion	Placenta Amnion

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