Variant report

Variant	rs2329369
Chromosome Location	chr7:50569509-50569510
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	chr7:50564851..50566745-chr7:50568557..50570240,2	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1037350	0.93[ASN][1000 genomes]
rs10499691	0.93[ASN][1000 genomes]
rs1107742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1107743	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575282	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11575286	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11575313	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11575321	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11575322	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11575338	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11575349	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11575410	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575442	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575521	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575548	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11575553	0.93[ASN][1000 genomes]
rs11575562	0.93[ASN][1000 genomes]
rs11976368	0.93[ASN][1000 genomes]
rs11978591	0.93[ASN][1000 genomes]
rs1349491	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1470748	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133817	0.93[ASN][1000 genomes]
rs17133826	0.93[ASN][1000 genomes]
rs17553036	0.93[ASN][1000 genomes]
rs17634476	0.93[ASN][1000 genomes]
rs17634717	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17634958	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17635123	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2100279	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2122817	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2242041	0.93[ASN][1000 genomes]
rs2329367	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2876826	0.89[ASN][1000 genomes]
rs2876830	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34672220	0.84[ASN][1000 genomes]
rs35399233	0.84[ASN][1000 genomes]
rs3779081	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3807553	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4602840	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56056130	0.93[ASN][1000 genomes]
rs61016409	0.84[ASN][1000 genomes]
rs6959427	0.89[ASN][1000 genomes]
rs71018475	0.87[ASN][1000 genomes]
rs73117270	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73119230	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73119239	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73119245	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73119251	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73121271	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73121282	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73121285	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73121287	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73121290	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73121292	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73123220	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73123247	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73123249	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73123251	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73123254	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73123257	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73123261	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73123264	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73123266	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73123283	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73123285	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73123291	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73125208	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73125215	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73125225	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73695642	0.93[ASN][1000 genomes]
rs73695660	0.93[ASN][1000 genomes]
rs73695663	0.93[ASN][1000 genomes]
rs7455944	0.84[ASN][1000 genomes]
rs7777600	0.85[ASN][1000 genomes]
rs7797772	0.84[ASN][1000 genomes]
rs896308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv888021	chr7:50538589-50610071	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50543600-50595000	Weak transcription	Liver	Liver
2	chr7:50560800-50581000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:50565200-50569800	Weak transcription	Right Atrium	heart
4	chr7:50565200-50570000	Weak transcription	Left Ventricle	heart
5	chr7:50565200-50570200	Weak transcription	Lung	lung
6	chr7:50565200-50572600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:50565200-50609000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr7:50565400-50569800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr7:50565400-50570000	Weak transcription	Pancreas	Pancrea
10	chr7:50565400-50570000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr7:50565400-50570000	Enhancers	Hela-S3	cervix
12	chr7:50565600-50569800	Weak transcription	Fetal Lung	lung
13	chr7:50565800-50570000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:50566200-50569600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:50566200-50569600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:50566200-50569600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr7:50566200-50569800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr7:50566200-50569800	Weak transcription	Ovary	ovary
19	chr7:50566200-50576000	Weak transcription	Colonic Mucosa	Colon
20	chr7:50566200-50581200	Strong transcription	Fetal Intestine Small	intestine
21	chr7:50566400-50572600	Strong transcription	Fetal Intestine Large	intestine
22	chr7:50566600-50569800	Weak transcription	HUVEC	blood vessel
23	chr7:50566800-50571400	Strong transcription	Duodenum Mucosa	Duodenum
24	chr7:50567800-50569800	Weak transcription	Fetal Muscle Trunk	muscle
25	chr7:50568200-50574400	Enhancers	Fetal Muscle Leg	muscle
26	chr7:50568400-50570200	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr7:50568600-50569600	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr7:50568800-50569800	Enhancers	Muscle Satellite Cultured Cells	--
29	chr7:50568800-50571400	Enhancers	HMEC	breast
30	chr7:50569000-50570400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:50569000-50570600	Weak transcription	Psoas Muscle	Psoas
32	chr7:50569000-50592800	Weak transcription	HepG2	liver
33	chr7:50569200-50569600	Weak transcription	Fetal Stomach	stomach
34	chr7:50569200-50570400	Enhancers	Colon Smooth Muscle	Colon
35	chr7:50569400-50569800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:50569400-50570000	Enhancers	Stomach Smooth Muscle	stomach
37	chr7:50569400-50571000	Enhancers	Primary hematopoietic stem cells	blood
38	chr7:50569400-50571200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:50569400-50572000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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