Variant report

Variant	rs1807691
Chromosome Location	chr22:31046315-31046316
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	chr22:31044835..31047140-chr22:31050920..31052617,2	K562	blood:
2	chr22:31044001..31046712-chr22:31063629..31065559,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167065	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12159053	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12160073	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13056240	0.83[AMR][1000 genomes]
rs34978834	0.83[AMR][1000 genomes]
rs4343559	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs757874	0.80[AMR][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	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv834175	chr22:30976624-31089545	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv2470739	chr22:31045290-31047365	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv2159149	chr22:31045322-31046410	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3456076	chr22:31045387-31046317	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31032400-31052400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr22:31032800-31046600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:31033200-31052000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr22:31033400-31058200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr22:31033600-31058000	Weak transcription	Adipose Nuclei	Adipose
6	chr22:31033600-31058000	Weak transcription	Fetal Lung	lung
7	chr22:31033800-31046600	Weak transcription	Fetal Intestine Small	intestine
8	chr22:31033800-31057600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr22:31034000-31046400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr22:31034000-31049800	Weak transcription	Fetal Brain Female	brain
11	chr22:31034000-31059400	Weak transcription	Aorta	Aorta
12	chr22:31034200-31057800	Weak transcription	Colon Smooth Muscle	Colon
13	chr22:31034200-31058800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr22:31039400-31050600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr22:31039800-31046600	Weak transcription	Right Atrium	heart
16	chr22:31040200-31046400	Weak transcription	Fetal Muscle Leg	muscle
17	chr22:31040200-31046600	Weak transcription	Psoas Muscle	Psoas
18	chr22:31040200-31060800	Weak transcription	Fetal Brain Male	brain
19	chr22:31040600-31055800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr22:31041000-31046400	Weak transcription	Brain Anterior Caudate	brain
21	chr22:31041400-31048400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr22:31042000-31046400	Weak transcription	Brain Substantia Nigra	brain
23	chr22:31043600-31046400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr22:31043600-31055400	Weak transcription	Fetal Stomach	stomach
25	chr22:31043800-31046600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr22:31043800-31051600	Weak transcription	Primary T cells from cord blood	blood
27	chr22:31044000-31046400	Weak transcription	Brain Germinal Matrix	brain
28	chr22:31044000-31046600	Weak transcription	Right Ventricle	heart
29	chr22:31044200-31046600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr22:31044200-31050400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr22:31044200-31057600	Weak transcription	Ovary	ovary
32	chr22:31044200-31058000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr22:31044800-31046800	Enhancers	Stomach Mucosa	stomach
34	chr22:31044800-31047000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr22:31044800-31047000	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr22:31045000-31047000	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr22:31045000-31047000	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr22:31045000-31047000	Enhancers	K562	blood
39	chr22:31045000-31047400	Enhancers	HUVEC	blood vessel
40	chr22:31045000-31048400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr22:31045200-31047000	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr22:31045200-31047000	Enhancers	Primary B cells from peripheral blood	blood
43	chr22:31045200-31047000	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr22:31045200-31047000	Enhancers	Esophagus	oesophagus
45	chr22:31045200-31062800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr22:31045400-31046600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr22:31045400-31046600	Weak transcription	Pancreas	Pancrea
48	chr22:31045400-31047000	Enhancers	Lung	lung
49	chr22:31045400-31047200	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr22:31045400-31047800	Enhancers	Brain Hippocampus Middle	brain

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