Variant report

Variant	rs9820770
Chromosome Location	chr3:142175019-142175020
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:142174888-142175086	A549	lung:	n/a	n/a
2	POLR2A	chr3:142174996-142175050	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:142166755..142169411-chr3:142174583..142176894,2	K562	blood:
2	chr3:142173107..142175736-chr3:142179768..142182228,2	K562	blood:

Variant related genes	Relation type
ATR	TF binding region
ENSG00000242479	Chromatin interaction
ENSG00000114127	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10935465	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1129393	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11925693	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12695761	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13061823	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13065075	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13067795	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13075471	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13085998	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13093869	0.81[EUR][1000 genomes]
rs13098343	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2227928	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2227930	0.89[AFR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2862743	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2862744	0.81[EUR][1000 genomes]
rs28708455	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3922730	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4273389	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4441672	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4597728	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57177110	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6440082	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6440086	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6440087	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6440088	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6440089	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6440090	0.83[EUR][1000 genomes]
rs6440091	0.80[EUR][1000 genomes]
rs6440092	0.82[EUR][1000 genomes]
rs6440093	0.82[EUR][1000 genomes]
rs6440094	0.82[EUR][1000 genomes]
rs6768093	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6770155	0.83[EUR][1000 genomes]
rs6772400	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6775583	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6775718	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6777255	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6780250	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6782400	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6785675	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6791816	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6792259	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6799752	0.83[EUR][1000 genomes]
rs7610557	0.83[EUR][1000 genomes]
rs7623524	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7627694	0.81[EUR][1000 genomes]
rs7630130	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7634158	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7641330	0.81[ASN][1000 genomes]
rs7647573	0.94[AFR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7651071	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7652687	0.83[EUR][1000 genomes]
rs9683085	0.92[AFR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9808914	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9808943	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9816736	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9825207	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9826786	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9828178	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9846960	0.81[ASN][1000 genomes]
rs9847364	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9855140	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9855919	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9869842	0.89[AFR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9871402	0.86[EUR][1000 genomes]
rs9876254	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9879995	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	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
3	nsv523945	chr3:141933649-142219542	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	nsv528954	chr3:142164017-142219542	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv3523317	chr3:142172020-142176793	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv3523318	chr3:142172020-142176793	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142167200-142176800	Weak transcription	Gastric	stomach
2	chr3:142167200-142178800	Weak transcription	Small Intestine	intestine
3	chr3:142167200-142187600	Weak transcription	Esophagus	oesophagus
4	chr3:142167200-142192400	Weak transcription	Pancreas	Pancrea
5	chr3:142167400-142175600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:142167400-142176400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:142167400-142176800	Weak transcription	Placenta	Placenta
8	chr3:142167400-142179600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr3:142167400-142199400	Weak transcription	Colonic Mucosa	Colon
10	chr3:142167400-142199600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:142167400-142234600	Weak transcription	Psoas Muscle	Psoas
12	chr3:142167600-142176400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr3:142167600-142177000	Weak transcription	Right Ventricle	heart
14	chr3:142167600-142177000	Weak transcription	NH-A	brain
15	chr3:142167600-142177400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr3:142167600-142177600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr3:142167600-142177600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr3:142167600-142180000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr3:142167600-142180000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr3:142167600-142187200	Weak transcription	Fetal Brain Male	brain
21	chr3:142167600-142191800	Weak transcription	Fetal Brain Female	brain
22	chr3:142167600-142199600	Weak transcription	Ovary	ovary
23	chr3:142167600-142200000	Weak transcription	HSMMtube	muscle
24	chr3:142167600-142203000	Weak transcription	Brain Angular Gyrus	brain
25	chr3:142167800-142175800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:142167800-142176000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr3:142167800-142176200	Weak transcription	HUVEC	blood vessel
28	chr3:142167800-142177000	Weak transcription	Brain Anterior Caudate	brain
29	chr3:142167800-142177000	Weak transcription	NHDF-Ad	bronchial
30	chr3:142167800-142177400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr3:142167800-142177600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr3:142167800-142177600	Weak transcription	NHEK	skin
33	chr3:142167800-142179000	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr3:142167800-142179800	Weak transcription	Brain Substantia Nigra	brain
35	chr3:142167800-142180000	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr3:142167800-142180200	Weak transcription	HepG2	liver
37	chr3:142167800-142184800	Weak transcription	Colon Smooth Muscle	Colon
38	chr3:142167800-142186400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr3:142167800-142188800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr3:142167800-142190400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr3:142167800-142199400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr3:142167800-142200000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr3:142167800-142200000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr3:142168000-142176400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr3:142168000-142182600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr3:142168000-142192000	Weak transcription	Fetal Lung	lung
47	chr3:142168000-142200000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr3:142168000-142200000	Weak transcription	Fetal Kidney	kidney
49	chr3:142168200-142185800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr3:142168400-142180600	Strong transcription	Dnd41	blood

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