Variant report

Variant	rs5762895
Chromosome Location	chr22:29316529-29316530
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	chr22:29315873..29318298-chr22:29320072..29322086,2	K562	blood:

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	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5752820	0.87[EUR][1000 genomes]
rs5752830	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5752839	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5752842	0.84[ASN][1000 genomes]
rs5762873	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5762876	0.89[ASN][1000 genomes]
rs5762890	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5762891	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5762893	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5762900	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762906	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5762907	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7286026	0.87[EUR][1000 genomes]
rs7288513	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7290364	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73388860	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8137589	0.90[EUR][1000 genomes]
rs9306461	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9625613	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9625621	1.00[EUR][1000 genomes]
rs9625622	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9625628	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9625640	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9625641	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9625645	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625647	1.00[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:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29313200-29318600	Weak transcription	Spleen	Spleen
2	chr22:29314200-29318600	Weak transcription	Colonic Mucosa	Colon
3	chr22:29314200-29319800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr22:29314400-29318600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr22:29314400-29318800	Weak transcription	HMEC	breast
6	chr22:29314400-29342800	Weak transcription	Brain Substantia Nigra	brain
7	chr22:29314600-29316600	Enhancers	HepG2	liver
8	chr22:29314600-29316800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr22:29314600-29316800	Weak transcription	A549	lung
10	chr22:29314600-29317200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr22:29314600-29317400	Weak transcription	NHEK	skin
12	chr22:29314600-29321800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr22:29314800-29316600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr22:29314800-29316800	Weak transcription	Esophagus	oesophagus
15	chr22:29314800-29319800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr22:29314800-29319800	Weak transcription	NH-A	brain
17	chr22:29314800-29328400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr22:29315000-29316600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr22:29315000-29316800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr22:29315000-29316800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr22:29315000-29316800	Weak transcription	Lung	lung
22	chr22:29315000-29317400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr22:29315000-29317600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr22:29315000-29317600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr22:29315000-29318600	Weak transcription	Aorta	Aorta
26	chr22:29315000-29318600	Weak transcription	Right Ventricle	heart
27	chr22:29315000-29319800	Weak transcription	Psoas Muscle	Psoas
28	chr22:29315200-29316600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr22:29315200-29316600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr22:29315200-29316600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr22:29315200-29316600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr22:29315200-29316800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr22:29315200-29316800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr22:29315200-29316800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr22:29315200-29316800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr22:29315200-29316800	Weak transcription	Fetal Brain Female	brain
37	chr22:29315200-29316800	Weak transcription	Fetal Intestine Large	intestine
38	chr22:29315200-29317200	Weak transcription	Brain Germinal Matrix	brain
39	chr22:29315200-29317200	Weak transcription	Stomach Mucosa	stomach
40	chr22:29315200-29317400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr22:29315200-29318600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr22:29315200-29318600	Weak transcription	Right Atrium	heart
43	chr22:29315200-29318800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr22:29315200-29318800	Weak transcription	Gastric	stomach
45	chr22:29315200-29319200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr22:29315200-29319200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr22:29315200-29319800	Weak transcription	Fetal Brain Male	brain
48	chr22:29315200-29319800	Weak transcription	Left Ventricle	heart
49	chr22:29315200-29326400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr22:29315400-29316600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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