Variant report

Variant	rs5997715
Chromosome Location	chr22:31037602-31037603
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	chr22:31037150..31040336-chr22:31042164..31045603,3	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10439913	0.81[AMR][1000 genomes]
rs1076301	0.97[ASN][1000 genomes]
rs11089468	0.89[ASN][1000 genomes]
rs12159167	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13054505	0.82[EUR][1000 genomes]
rs13056901	0.88[AMR][1000 genomes]
rs1971653	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1981590	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1981591	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2072194	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2078976	0.86[ASN][1000 genomes]
rs2240002	0.81[ASN][1000 genomes]
rs2267164	0.81[AMR][1000 genomes]
rs2270013	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3179442	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3887855	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4375972	0.80[EUR][1000 genomes]
rs4513384	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4820023	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4820891	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5019308	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5749141	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5749144	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5749147	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs5749148	0.80[EUR][1000 genomes]
rs5749149	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5753250	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5753252	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs5753259	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5753260	0.81[EUR][1000 genomes]
rs5753265	0.86[ASN][1000 genomes]
rs5994328	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5997711	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5997714	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs757027	0.90[ASN][1000 genomes]
rs8138932	0.91[EUR][1000 genomes]
rs8139950	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[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:71 , 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	chr22:31033200-31039200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr22:31033200-31052000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr22:31033400-31058200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr22:31033600-31058000	Weak transcription	Adipose Nuclei	Adipose
7	chr22:31033600-31058000	Weak transcription	Fetal Lung	lung
8	chr22:31033800-31039000	Weak transcription	HSMMtube	muscle
9	chr22:31033800-31039400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr22:31033800-31039400	Weak transcription	NHLF	lung
11	chr22:31033800-31042600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr22:31033800-31046600	Weak transcription	Fetal Intestine Small	intestine
13	chr22:31033800-31057600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr22:31034000-31039400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr22:31034000-31039400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr22:31034000-31039400	Weak transcription	Fetal Brain Male	brain
17	chr22:31034000-31039400	Weak transcription	Pancreas	Pancrea
18	chr22:31034000-31039400	Weak transcription	Osteobl	bone
19	chr22:31034000-31039600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr22:31034000-31039800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr22:31034000-31039800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr22:31034000-31042200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr22:31034000-31042400	Weak transcription	Brain Germinal Matrix	brain
24	chr22:31034000-31043000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr22:31034000-31045000	Weak transcription	HUVEC	blood vessel
26	chr22:31034000-31045000	Weak transcription	NHEK	skin
27	chr22:31034000-31045200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr22:31034000-31045400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr22:31034000-31046400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr22:31034000-31049800	Weak transcription	Fetal Brain Female	brain
31	chr22:31034000-31059400	Weak transcription	Aorta	Aorta
32	chr22:31034200-31039200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr22:31034200-31039400	Weak transcription	Ovary	ovary
34	chr22:31034200-31045600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr22:31034200-31057800	Weak transcription	Colon Smooth Muscle	Colon
36	chr22:31034200-31058800	Weak transcription	Rectal Smooth Muscle	rectum
37	chr22:31034400-31039400	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr22:31036200-31038200	Enhancers	Brain Hippocampus Middle	brain
39	chr22:31036200-31041400	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr22:31036400-31038000	Enhancers	Right Atrium	heart
41	chr22:31036400-31038200	Enhancers	Psoas Muscle	Psoas
42	chr22:31036400-31042000	Enhancers	Brain Substantia Nigra	brain
43	chr22:31036600-31038000	Enhancers	Brain Angular Gyrus	brain
44	chr22:31036600-31038000	Enhancers	Fetal Heart	heart
45	chr22:31036600-31038000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr22:31037000-31039200	Weak transcription	Spleen	Spleen
47	chr22:31037200-31039200	Weak transcription	GM12878-XiMat	blood
48	chr22:31037200-31039400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr22:31037200-31039800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr22:31037200-31042800	Weak transcription	Fetal Stomach	stomach

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