Variant report

Variant	rs28617475
Chromosome Location	chr3:142247757-142247758
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	chr3:142246869..142249118-chr3:142259250..142261613,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10935465	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1129393	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13065075	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13067795	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13069307	0.80[ASN][1000 genomes]
rs13085998	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13093869	0.80[ASN][1000 genomes]
rs13098343	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2227928	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2227930	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6414350	0.80[ASN][1000 genomes]
rs6440086	0.84[ASN][1000 genomes]
rs6440087	0.89[ASN][1000 genomes]
rs6440088	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6440089	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6440091	0.80[ASN][1000 genomes]
rs6440092	0.80[ASN][1000 genomes]
rs6440093	0.80[ASN][1000 genomes]
rs6440094	0.80[ASN][1000 genomes]
rs6768093	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6770155	0.80[ASN][1000 genomes]
rs6782400	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6791816	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6792259	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6799752	0.80[ASN][1000 genomes]
rs7610557	0.80[ASN][1000 genomes]
rs7623524	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7630130	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7634158	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7641330	0.83[ASN][1000 genomes]
rs7647573	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7651071	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9683085	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9808914	0.89[ASN][1000 genomes]
rs9808943	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9825207	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9846960	0.83[ASN][1000 genomes]
rs9855919	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9869842	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9876254	0.86[ASN][1000 genomes]
rs9879995	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877556	chr3:141898980-142331360	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv877558	chr3:142123841-142331360	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv877559	chr3:142132749-142331360	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv877560	chr3:142132749-142362179	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv877561	chr3:142152925-142331360	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv932989	chr3:142204208-142423305	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv933680	chr3:142211643-142287189	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv591919	chr3:142219542-142308070	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142200600-142271800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr3:142201600-142273200	Weak transcription	Esophagus	oesophagus
3	chr3:142201800-142273800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:142203000-142255200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr3:142203800-142255200	Weak transcription	Gastric	stomach
6	chr3:142204200-142253000	Weak transcription	Brain Substantia Nigra	brain
7	chr3:142204200-142273200	Weak transcription	Spleen	Spleen
8	chr3:142204200-142281400	Weak transcription	Colonic Mucosa	Colon
9	chr3:142209400-142271800	Weak transcription	HepG2	liver
10	chr3:142212000-142251400	Weak transcription	Brain Anterior Caudate	brain
11	chr3:142218200-142251200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr3:142220200-142251200	Weak transcription	NHDF-Ad	bronchial
13	chr3:142220200-142252400	Weak transcription	NHLF	lung
14	chr3:142220600-142253000	Weak transcription	HMEC	breast
15	chr3:142220800-142251400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr3:142221000-142249400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr3:142226000-142287200	Weak transcription	Right Ventricle	heart
18	chr3:142226400-142251800	Weak transcription	Lung	lung
19	chr3:142226600-142251000	Weak transcription	Brain Hippocampus Middle	brain
20	chr3:142226600-142252200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr3:142228600-142252600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr3:142228600-142253000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr3:142231600-142255200	Weak transcription	Aorta	Aorta
24	chr3:142231600-142295800	Weak transcription	Small Intestine	intestine
25	chr3:142233000-142252000	Weak transcription	HUVEC	blood vessel
26	chr3:142233200-142251000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr3:142233200-142251600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr3:142233600-142255200	Weak transcription	Fetal Stomach	stomach
29	chr3:142233600-142271000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr3:142235200-142251000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr3:142237800-142251800	Weak transcription	Hela-S3	cervix
32	chr3:142238600-142269000	Weak transcription	Fetal Intestine Small	intestine
33	chr3:142239800-142269600	Weak transcription	Thymus	Thymus
34	chr3:142240600-142251400	Weak transcription	Brain Angular Gyrus	brain
35	chr3:142240800-142249800	Weak transcription	Primary B cells from peripheral blood	blood
36	chr3:142240800-142250800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr3:142240800-142252400	Weak transcription	Colon Smooth Muscle	Colon
38	chr3:142240800-142281600	Weak transcription	Fetal Brain Male	brain
39	chr3:142241000-142249400	Weak transcription	GM12878-XiMat	blood
40	chr3:142241000-142251000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr3:142241000-142251600	Weak transcription	Brain Germinal Matrix	brain
42	chr3:142241000-142251600	Weak transcription	HSMMtube	muscle
43	chr3:142241000-142251800	Weak transcription	Fetal Brain Female	brain
44	chr3:142241000-142251800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr3:142241000-142252800	Weak transcription	Left Ventricle	heart
46	chr3:142241000-142252800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr3:142241000-142254600	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr3:142241000-142280800	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr3:142241200-142249600	Weak transcription	Primary hematopoietic stem cells	blood
50	chr3:142241200-142251000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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