Variant report

Variant	rs5997719
Chromosome Location	chr22:31039881-31039882
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31031468..31033960-chr22:31037856..31040845,2	MCF-7	breast:
2	chr22:31037150..31040336-chr22:31042164..31045603,3	K562	blood:

Variant related genes	Relation type
ENSG00000100036	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11914089	1.00[ASN][1000 genomes]
rs12168004	0.97[ASN][1000 genomes]
rs13433541	0.96[ASN][1000 genomes]
rs16988855	0.92[EUR][1000 genomes]
rs16988936	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2009857	0.85[EUR][1000 genomes]
rs2013928	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2072195	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2267162	0.92[EUR][1000 genomes]
rs2267165	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2267166	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs41279965	0.80[AMR][1000 genomes]
rs55844758	0.99[ASN][1000 genomes]
rs5994329	0.93[ASN][1000 genomes]
rs5997728	0.93[ASN][1000 genomes]
rs72558391	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7288385	0.92[EUR][1000 genomes]
rs7288627	0.92[EUR][1000 genomes]
rs7290898	0.92[EUR][1000 genomes]
rs73396395	0.92[EUR][1000 genomes]
rs73398305	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8135379	0.96[ASN][1000 genomes]
rs8135450	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8141515	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9306264	0.96[ASN][1000 genomes]
rs9606761	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9606762	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9619128	0.95[ASN][1000 genomes]
rs9621051	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

Chromatin state (count:73 , 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	chr22:31033800-31042600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr22:31033800-31046600	Weak transcription	Fetal Intestine Small	intestine
9	chr22:31033800-31057600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr22:31034000-31042200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr22:31034000-31042400	Weak transcription	Brain Germinal Matrix	brain
12	chr22:31034000-31043000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr22:31034000-31045000	Weak transcription	HUVEC	blood vessel
14	chr22:31034000-31045000	Weak transcription	NHEK	skin
15	chr22:31034000-31045200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr22:31034000-31045400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr22:31034000-31046400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr22:31034000-31049800	Weak transcription	Fetal Brain Female	brain
19	chr22:31034000-31059400	Weak transcription	Aorta	Aorta
20	chr22:31034200-31045600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr22:31034200-31057800	Weak transcription	Colon Smooth Muscle	Colon
22	chr22:31034200-31058800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr22:31036200-31041400	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr22:31036400-31042000	Enhancers	Brain Substantia Nigra	brain
25	chr22:31037200-31042800	Weak transcription	Fetal Stomach	stomach
26	chr22:31037200-31045000	Weak transcription	Colonic Mucosa	Colon
27	chr22:31037200-31045400	Weak transcription	Lung	lung
28	chr22:31037400-31042400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr22:31037400-31042600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr22:31038000-31041400	Enhancers	Brain Cingulate Gyrus	brain
31	chr22:31039000-31040000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr22:31039000-31040200	Enhancers	Fetal Muscle Leg	muscle
33	chr22:31039000-31040200	Enhancers	Left Ventricle	heart
34	chr22:31039000-31040200	Enhancers	Psoas Muscle	Psoas
35	chr22:31039000-31040200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr22:31039000-31040800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr22:31039000-31040800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr22:31039000-31041000	Enhancers	NHDF-Ad	bronchial
39	chr22:31039000-31041400	Enhancers	Brain Hippocampus Middle	brain
40	chr22:31039200-31040000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr22:31039200-31040000	Enhancers	Esophagus	oesophagus
42	chr22:31039200-31040000	Genic enhancers	Gastric	stomach
43	chr22:31039200-31040000	Enhancers	Right Ventricle	heart
44	chr22:31039200-31040000	Enhancers	Spleen	Spleen
45	chr22:31039200-31040000	Enhancers	GM12878-XiMat	blood
46	chr22:31039200-31040200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr22:31039400-31040200	Enhancers	Fetal Brain Male	brain
48	chr22:31039400-31040600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr22:31039400-31040600	Enhancers	Osteobl	bone
50	chr22:31039400-31040800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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