Variant report

Variant	rs7559219
Chromosome Location	chr2:153550338-153550339
allele	C/T
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	chr2:153549391-153550761	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153549811..153552361-chr2:153572191..153576736,5	K562	blood:

Variant related genes	Relation type
PRPF40A	TF binding region
ENSG00000196504	Chromatin interaction
ENSG00000177917	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10172024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10181485	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10200667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1036526	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1065266	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10931229	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1128804	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11544718	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11899051	0.87[ASN][1000 genomes]
rs12477881	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12621561	0.88[ASN][1000 genomes]
rs12997814	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13005368	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13010731	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13017428	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13031469	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13419068	0.88[ASN][1000 genomes]
rs1370498	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1437678	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16831548	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16831740	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17328734	1.00[ASN][1000 genomes]
rs17400645	0.90[ASN][1000 genomes]
rs1962313	0.90[ASN][1000 genomes]
rs1986743	0.87[ASN][1000 genomes]
rs1992146	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2118377	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2304559	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2346534	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2346539	0.88[ASN][1000 genomes]
rs2346540	0.88[ASN][1000 genomes]
rs2346541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2346542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2346543	0.90[ASN][1000 genomes]
rs2346549	0.90[ASN][1000 genomes]
rs2346550	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3171980	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34585982	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34668102	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3748937	0.90[ASN][1000 genomes]
rs3748938	0.87[ASN][1000 genomes]
rs3748939	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3762503	0.88[ASN][1000 genomes]
rs3762506	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3762507	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3811566	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4233660	0.90[ASN][1000 genomes]
rs4267470	0.90[ASN][1000 genomes]
rs4580346	0.84[ASN][1000 genomes]
rs4664121	0.88[ASN][1000 genomes]
rs4664122	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4664601	0.88[ASN][1000 genomes]
rs4664602	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4664604	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4664605	0.90[ASN][1000 genomes]
rs4664606	0.89[ASN][1000 genomes]
rs4664607	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4664609	0.90[ASN][1000 genomes]
rs4664610	0.88[ASN][1000 genomes]
rs55785027	0.87[EUR][1000 genomes]
rs56283545	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61049574	0.82[ASN][1000 genomes]
rs6434161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434162	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6713779	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6723574	0.86[ASN][1000 genomes]
rs6727279	0.87[ASN][1000 genomes]
rs6746079	0.88[ASN][1000 genomes]
rs6746321	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6748160	0.90[ASN][1000 genomes]
rs715047	0.86[ASN][1000 genomes]
rs72871191	0.88[ASN][1000 genomes]
rs72872607	0.88[ASN][1000 genomes]
rs7556673	0.88[ASN][1000 genomes]
rs7558920	0.88[ASN][1000 genomes]
rs7560393	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7570759	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7576152	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7576847	0.81[ASN][1000 genomes]
rs7582253	0.88[ASN][1000 genomes]
rs7589899	0.82[ASN][1000 genomes]
rs7592669	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7593347	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7599946	0.90[ASN][1000 genomes]
rs7605709	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7608603	0.90[ASN][1000 genomes]
rs9288121	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9288125	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9288127	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9646744	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9789505	0.88[ASN][1000 genomes]
rs9789521	0.87[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	nsv834421	chr2:153470109-153664235	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv3693438	chr2:153505376-153718246	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153508000-153550800	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr2:153509200-153551200	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:153518400-153551000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:153518800-153558000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:153523000-153557800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:153523400-153571800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:153525000-153557800	Weak transcription	Lung	lung
8	chr2:153525000-153571800	Weak transcription	Small Intestine	intestine
9	chr2:153532400-153550800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:153533200-153551000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:153533200-153551600	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:153533200-153558000	Weak transcription	Colonic Mucosa	Colon
13	chr2:153533400-153557800	Weak transcription	Fetal Stomach	stomach
14	chr2:153533400-153558600	Weak transcription	Aorta	Aorta
15	chr2:153533400-153571600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr2:153533800-153558000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:153533800-153572600	Weak transcription	Fetal Brain Male	brain
18	chr2:153536000-153572600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr2:153537200-153557200	Weak transcription	Thymus	Thymus
20	chr2:153537400-153550600	Weak transcription	Brain Hippocampus Middle	brain
21	chr2:153537400-153565400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:153537600-153550600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr2:153537600-153557400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:153537600-153558400	Weak transcription	Fetal Brain Female	brain
25	chr2:153537600-153571800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr2:153537800-153550600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr2:153537800-153550800	Weak transcription	Brain Substantia Nigra	brain
28	chr2:153537800-153557800	Weak transcription	Brain Germinal Matrix	brain
29	chr2:153538000-153550600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr2:153538000-153550600	Weak transcription	HSMMtube	muscle
31	chr2:153538400-153550600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr2:153539600-153550600	Weak transcription	Ovary	ovary
33	chr2:153539600-153557800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:153539600-153557800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:153539600-153557800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:153539600-153557800	Weak transcription	Esophagus	oesophagus
37	chr2:153539600-153557800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr2:153539600-153571800	Weak transcription	Brain Anterior Caudate	brain
39	chr2:153539600-153572400	Weak transcription	Brain Angular Gyrus	brain
40	chr2:153539600-153572400	Weak transcription	Pancreas	Pancrea
41	chr2:153540000-153550600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr2:153540000-153555800	Strong transcription	HepG2	liver
43	chr2:153540400-153552000	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr2:153540600-153550800	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr2:153541200-153556600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:153542000-153552600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr2:153542000-153557800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr2:153543400-153551400	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr2:153543400-153557800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:153543600-153551200	Strong transcription	Dnd41	blood

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