Variant report

Variant	rs9609028
Chromosome Location	chr22:31042233-31042234
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31031427..31034131-chr22:31040596..31042589,2	K562	blood:
2	chr22:31037150..31040336-chr22:31042164..31045603,3	K562	blood:
3	chr22:31039922..31042444-chr22:31043660..31045429,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100036	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs28704032	0.81[EUR][1000 genomes]
rs5994330	1.00[EUR][1000 genomes]
rs5997724	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997729	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9606757	0.81[EUR][1000 genomes]
rs9606758	1.00[EUR][1000 genomes]
rs9606763	1.00[EUR][1000 genomes]
rs9609025	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609030	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609033	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609038	1.00[EUR][1000 genomes];1.00[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:74 , 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	chr22:31034000-31042400	Weak transcription	Brain Germinal Matrix	brain
11	chr22:31034000-31043000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr22:31034000-31045000	Weak transcription	HUVEC	blood vessel
13	chr22:31034000-31045000	Weak transcription	NHEK	skin
14	chr22:31034000-31045200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr22:31034000-31045400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr22:31034000-31046400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr22:31034000-31049800	Weak transcription	Fetal Brain Female	brain
18	chr22:31034000-31059400	Weak transcription	Aorta	Aorta
19	chr22:31034200-31045600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr22:31034200-31057800	Weak transcription	Colon Smooth Muscle	Colon
21	chr22:31034200-31058800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr22:31037200-31042800	Weak transcription	Fetal Stomach	stomach
23	chr22:31037200-31045000	Weak transcription	Colonic Mucosa	Colon
24	chr22:31037200-31045400	Weak transcription	Lung	lung
25	chr22:31037400-31042400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr22:31037400-31042600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr22:31039400-31050600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr22:31039800-31042400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr22:31039800-31042600	Weak transcription	Pancreas	Pancrea
30	chr22:31039800-31043400	Weak transcription	Ovary	ovary
31	chr22:31039800-31045600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr22:31039800-31046600	Weak transcription	Right Atrium	heart
33	chr22:31040000-31042400	Weak transcription	Gastric	stomach
34	chr22:31040000-31042400	Weak transcription	Spleen	Spleen
35	chr22:31040000-31042600	Weak transcription	Right Ventricle	heart
36	chr22:31040000-31045200	Weak transcription	Esophagus	oesophagus
37	chr22:31040000-31045200	Weak transcription	GM12878-XiMat	blood
38	chr22:31040200-31045000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr22:31040200-31045000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr22:31040200-31045600	Weak transcription	Left Ventricle	heart
41	chr22:31040200-31046400	Weak transcription	Fetal Muscle Leg	muscle
42	chr22:31040200-31046600	Weak transcription	Psoas Muscle	Psoas
43	chr22:31040200-31060800	Weak transcription	Fetal Brain Male	brain
44	chr22:31040400-31042400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr22:31040400-31044800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr22:31040600-31042600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr22:31040600-31043600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr22:31040600-31045000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr22:31040600-31045000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr22:31040600-31045000	Weak transcription	HSMM	muscle

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