Variant report

Variant	rs74089796
Chromosome Location	chr1:77334869-77334870
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1403245	1.00[AMR][1000 genomes]
rs1522623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1522624	1.00[AMR][1000 genomes]
rs1698827	0.83[AFR][1000 genomes]
rs17099675	1.00[AMR][1000 genomes]
rs2090967	0.96[AFR][1000 genomes]
rs74092203	0.96[AFR][1000 genomes];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	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	nsv1005649	chr1:77141039-77398747	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1003386	chr1:77305197-77375536	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77332200-77335800	Active TSS	Brain Anterior Caudate	brain
2	chr1:77332800-77335000	Active TSS	H9 Cell Line	embryonic stem cell
3	chr1:77332800-77335000	Active TSS	Aorta	Aorta
4	chr1:77332800-77335200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
5	chr1:77332800-77335200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr1:77332800-77335200	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr1:77332800-77335600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr1:77332800-77335600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
9	chr1:77332800-77336000	Active TSS	Brain Angular Gyrus	brain
10	chr1:77332800-77336000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:77332800-77336200	Active TSS	Brain Cingulate Gyrus	brain
12	chr1:77332800-77336200	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr1:77332800-77337400	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr1:77333000-77335000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:77333000-77335000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:77333000-77335000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:77333000-77335000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:77333000-77335000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:77333000-77335000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:77333000-77335000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:77333000-77335000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:77333000-77335000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:77333000-77335000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
24	chr1:77333000-77335000	Active TSS	Rectal Smooth Muscle	rectum
25	chr1:77333000-77335200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
26	chr1:77333000-77336200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
27	chr1:77333000-77336400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:77333200-77335000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
29	chr1:77333200-77335000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:77333200-77335000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:77333200-77335000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
32	chr1:77333200-77335000	Active TSS	Gastric	stomach
33	chr1:77333200-77335200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
34	chr1:77333400-77335000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:77333400-77335400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
36	chr1:77333600-77335000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
37	chr1:77333800-77335000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:77333800-77335000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
39	chr1:77334200-77335000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
40	chr1:77334200-77335000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
41	chr1:77334200-77335200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:77334400-77335000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:77334400-77335000	Transcr. at gene 5' and 3'	Cortex derived primary cultured neurospheres	brain
44	chr1:77334400-77335000	Bivalent Enhancer	Adipose Nuclei	Adipose
45	chr1:77334400-77335000	Flanking Active TSS	Brain Substantia Nigra	brain
46	chr1:77334400-77335000	Bivalent Enhancer	Fetal Lung	lung
47	chr1:77334400-77335000	Bivalent Enhancer	HUVEC	blood vessel
48	chr1:77334400-77335200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:77334400-77335200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
50	chr1:77334400-77335600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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