Variant report

Variant	rs62182404
Chromosome Location	chr2:172748162-172748163
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	chr2:172745241..172748938-chr2:172777169..172782251,7	K562	blood:
2	chr2:172746433..172748218-chr2:172754634..172756631,2	K562	blood:

Variant related genes	Relation type
ENSG00000128708	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs17499544	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17499593	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55681218	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55864623	0.87[AMR][1000 genomes]
rs56049564	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56133507	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62181740	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs62181741	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62181743	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs62182401	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62182425	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62182429	0.81[AMR][1000 genomes]
rs62182432	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62182437	0.81[AMR][1000 genomes]
rs62182446	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62183763	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62183776	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72881959	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72889094	0.81[AMR][1000 genomes]
rs72890841	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834457	chr2:172564939-172770901	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv583611	chr2:172683481-172750257	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	nsv1006214	chr2:172691689-172754296	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
4	nsv536036	chr2:172691689-172754296	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
5	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv536037	chr2:172745597-172780616	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172690200-172750200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:172709600-172749600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:172709600-172749600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:172712200-172749200	Weak transcription	Hela-S3	cervix
5	chr2:172721200-172749600	Weak transcription	Thymus	Thymus
6	chr2:172724000-172749600	Weak transcription	Small Intestine	intestine
7	chr2:172724800-172749600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:172725400-172749800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:172725800-172749600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:172731600-172749600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:172732000-172748800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr2:172732000-172749400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr2:172732000-172749400	Weak transcription	A549	lung
14	chr2:172732000-172749600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr2:172732000-172749800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:172732000-172749800	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr2:172732000-172750000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr2:172732200-172749600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:172732400-172749600	Weak transcription	Fetal Kidney	kidney
20	chr2:172732400-172749800	Weak transcription	Fetal Thymus	thymus
21	chr2:172733000-172749200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:172733000-172749400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr2:172735200-172749600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:172735400-172748200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr2:172735400-172748400	Weak transcription	Brain Anterior Caudate	brain
26	chr2:172735400-172749400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr2:172735400-172749400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr2:172735400-172749400	Weak transcription	Brain Hippocampus Middle	brain
29	chr2:172735400-172749600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr2:172735400-172749600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:172735400-172749600	Weak transcription	NHDF-Ad	bronchial
32	chr2:172735400-172749600	Weak transcription	NHEK	skin
33	chr2:172735600-172749600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:172735600-172749600	Weak transcription	Adipose Nuclei	Adipose
35	chr2:172735600-172749600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr2:172735600-172749600	Weak transcription	Brain Substantia Nigra	brain
37	chr2:172735600-172749600	Weak transcription	HMEC	breast
38	chr2:172735600-172749600	Weak transcription	NHLF	lung
39	chr2:172735600-172750000	Weak transcription	Aorta	Aorta
40	chr2:172735800-172749400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:172736000-172749600	Weak transcription	Brain Angular Gyrus	brain
42	chr2:172736200-172749400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:172736200-172749600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:172736600-172748600	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr2:172737200-172749600	Weak transcription	Ovary	ovary
46	chr2:172738000-172749600	Weak transcription	Left Ventricle	heart
47	chr2:172739000-172748200	Weak transcription	Right Atrium	heart
48	chr2:172739000-172749200	Weak transcription	Osteobl	bone
49	chr2:172739000-172749600	Weak transcription	Primary hematopoietic stem cells	blood
50	chr2:172739200-172748400	Weak transcription	Stomach Smooth Muscle	stomach

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