Variant report

Variant	rs9625641
Chromosome Location	chr22:29312053-29312054
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs16986814	1.00[EUR][1000 genomes]
rs2881637	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5752820	0.87[EUR][1000 genomes]
rs5752830	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5752839	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5752842	0.82[ASN][1000 genomes]
rs5762873	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5762876	0.90[ASN][1000 genomes]
rs5762890	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762893	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762895	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5762900	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5762906	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5762907	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7286026	0.87[EUR][1000 genomes]
rs7288513	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7290364	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73388860	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8137589	0.90[EUR][1000 genomes]
rs9306461	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9625613	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9625621	1.00[EUR][1000 genomes]
rs9625622	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9625628	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9625640	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9625645	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9625647	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29303800-29313200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:29304400-29312400	Weak transcription	Fetal Brain Female	brain
3	chr22:29304400-29312600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr22:29304600-29312600	Weak transcription	Fetal Brain Male	brain
5	chr22:29304600-29313000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr22:29304800-29313800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr22:29305000-29312600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr22:29305000-29313600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr22:29305600-29313600	Weak transcription	NHEK	skin
10	chr22:29307400-29313000	Weak transcription	Brain Substantia Nigra	brain
11	chr22:29307600-29312600	Weak transcription	Brain Angular Gyrus	brain
12	chr22:29307800-29312200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr22:29308000-29312200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr22:29308000-29312400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr22:29308000-29312600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr22:29308000-29312600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr22:29308000-29312600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr22:29308000-29313000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr22:29308000-29313000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr22:29308000-29313000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr22:29308000-29313200	Weak transcription	Gastric	stomach
22	chr22:29308200-29312800	Weak transcription	Right Ventricle	heart
23	chr22:29308200-29313800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr22:29308200-29313800	Weak transcription	NH-A	brain
25	chr22:29308400-29312200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr22:29308400-29312200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr22:29308400-29312400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr22:29308400-29312400	Weak transcription	Fetal Stomach	stomach
29	chr22:29308400-29312600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr22:29308400-29312800	Weak transcription	Brain Germinal Matrix	brain
31	chr22:29308400-29312800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr22:29308400-29313000	Weak transcription	HSMM	muscle
33	chr22:29308400-29313200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr22:29308400-29313200	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr22:29308400-29313200	Weak transcription	Stomach Mucosa	stomach
36	chr22:29308600-29312200	Weak transcription	Fetal Muscle Leg	muscle
37	chr22:29308600-29312200	Weak transcription	Small Intestine	intestine
38	chr22:29308600-29312400	Weak transcription	Fetal Heart	heart
39	chr22:29308600-29312600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr22:29308600-29312600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr22:29308600-29312800	Weak transcription	HSMMtube	muscle
42	chr22:29308600-29313000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr22:29308600-29313000	Weak transcription	Right Atrium	heart
44	chr22:29308600-29314000	Weak transcription	Adipose Nuclei	Adipose
45	chr22:29308600-29314000	Weak transcription	NHLF	lung
46	chr22:29309200-29312200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr22:29309200-29312600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr22:29309200-29312800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr22:29309200-29313000	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr22:29309200-29313600	Weak transcription	Liver	Liver

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