Variant report

Variant	rs4662575
Chromosome Location	chr2:128022215-128022216
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	chr2:128022208-128022294	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:128009689..128011867-chr2:128022033..128024920,2	K562	blood:

Variant related genes	Relation type
ERCC3	TF binding region

Extended variants
information (count: 72 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10209678	0.95[ASN][1000 genomes]
rs10803585	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10928761	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11886231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11890187	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11901355	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12052483	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12463451	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12465955	0.99[ASN][1000 genomes]
rs12477214	0.84[ASN][1000 genomes]
rs12479003	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12622436	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12623948	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12692064	0.95[ASN][1000 genomes]
rs12989081	0.84[ASN][1000 genomes]
rs12989154	0.87[ASN][1000 genomes]
rs12991768	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13029237	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1566823	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17015199	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1850689	0.84[ASN][1000 genomes]
rs2090574	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2174270	0.99[ASN][1000 genomes]
rs2276583	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2896980	0.85[ASN][1000 genomes]
rs3088374	0.80[AMR][1000 genomes]
rs34832797	0.87[ASN][1000 genomes]
rs35293119	0.85[ASN][1000 genomes]
rs35328149	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3768866	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4150407	0.96[ASN][1000 genomes]
rs4150441	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4150454	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4150477	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4150495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4150496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4233583	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4233584	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4497825	0.93[ASN][1000 genomes]
rs4662578	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4662580	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4662711	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4662712	0.84[ASN][1000 genomes]
rs4662717	0.99[ASN][1000 genomes]
rs4662722	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4662725	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55905117	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs55998967	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58475809	0.96[ASN][1000 genomes]
rs59566504	0.87[ASN][1000 genomes]
rs62157549	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62157555	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62160261	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6430935	0.97[ASN][1000 genomes]
rs6712213	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6712446	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6712551	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6731176	0.91[ASN][1000 genomes]
rs6732279	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6761447	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71414745	0.90[ASN][1000 genomes]
rs7568261	0.87[ASN][1000 genomes]
rs7580658	0.81[EUR][1000 genomes]
rs7589451	0.86[ASN][1000 genomes]
rs867304	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9636237	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9789510	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006112	chr2:127830117-128032546	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv999809	chr2:127841930-128032546	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1010669	chr2:127848860-128032546	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1003599	chr2:127871183-128059407	Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv535920	chr2:127871183-128059407	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128012400-128028000	Weak transcription	Hela-S3	cervix
2	chr2:128012600-128026200	Weak transcription	Stomach Mucosa	stomach
3	chr2:128013400-128022400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:128013600-128036200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:128014000-128041000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:128014600-128041000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:128016200-128027800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:128017200-128027400	Weak transcription	Esophagus	oesophagus
9	chr2:128017400-128025000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr2:128017600-128026400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:128017600-128027800	Weak transcription	Small Intestine	intestine
12	chr2:128018200-128025600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:128018400-128024400	Weak transcription	HSMMtube	muscle
14	chr2:128018400-128024600	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:128018400-128024800	Weak transcription	NHDF-Ad	bronchial
16	chr2:128018800-128024200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:128018800-128024600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:128018800-128025000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:128018800-128025000	Weak transcription	Right Ventricle	heart
20	chr2:128018800-128025200	Weak transcription	Gastric	stomach
21	chr2:128018800-128025600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:128018800-128025800	Weak transcription	Spleen	Spleen
23	chr2:128019000-128024200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:128019000-128024400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr2:128019000-128024400	Weak transcription	Ovary	ovary
26	chr2:128019000-128024400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr2:128019000-128024600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr2:128019000-128024600	Weak transcription	HUVEC	blood vessel
29	chr2:128019000-128024800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr2:128019000-128025200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr2:128019000-128025200	Weak transcription	Aorta	Aorta
32	chr2:128019000-128025600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:128019000-128025800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr2:128019000-128025800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr2:128019000-128025800	Weak transcription	Psoas Muscle	Psoas
36	chr2:128019000-128026200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr2:128019000-128026200	Weak transcription	NHEK	skin
38	chr2:128019000-128027400	Weak transcription	Fetal Brain Male	brain
39	chr2:128019000-128027400	Weak transcription	Pancreas	Pancrea
40	chr2:128019000-128027600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr2:128019000-128028200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr2:128019000-128028200	Weak transcription	NHLF	lung
43	chr2:128019200-128023400	Weak transcription	Osteobl	bone
44	chr2:128019200-128024400	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr2:128019200-128024400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr2:128019200-128024600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr2:128019200-128024600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:128019200-128024600	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr2:128019200-128024600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr2:128019200-128025000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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