Variant report

Variant	rs62152972
Chromosome Location	chr2:96842653-96842654
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:96841162..96844605-chr2:96846241..96850717,4	K562	blood:
2	chr2:96730056..96731818-chr2:96841828..96843515,2	MCF-7	breast:
3	chr2:96839818..96843636-chr2:96856323..96861467,4	K562	blood:
4	chr2:96837701..96840324-chr2:96842063..96845006,2	K562	blood:
5	chr2:96838596..96845303-chr2:96871410..96876141,7	K562	blood:

Variant related genes	Relation type
ENSG00000084090	Chromatin interaction
ENSG00000204685	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs17119615	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs3852673	0.95[ASN][1000 genomes]
rs4592891	0.93[ASN][1000 genomes]
rs4826	1.00[ASN][1000 genomes]
rs56088823	0.91[AFR][1000 genomes]
rs57476471	0.95[ASN][1000 genomes]
rs59082429	0.95[ASN][1000 genomes]
rs59664047	1.00[ASN][1000 genomes]
rs60409279	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61624166	0.91[AFR][1000 genomes]
rs62152966	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs62153011	1.00[ASN][1000 genomes]
rs62153018	1.00[ASN][1000 genomes]
rs62153022	1.00[ASN][1000 genomes]
rs6576968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6756208	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72825854	1.00[ASN][1000 genomes]
rs72825856	1.00[ASN][1000 genomes]
rs72825864	1.00[ASN][1000 genomes]
rs73958180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580178	0.95[ASN][1000 genomes]
rs997547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	esv3435047	chr2:96836850-96890437	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96828200-96850000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr2:96830600-96850000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:96837800-96849800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:96838000-96850200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:96840400-96845600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr2:96840400-96845800	Weak transcription	Primary T cells from cord blood	blood
7	chr2:96840400-96845800	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr2:96840400-96845800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr2:96840400-96848600	Weak transcription	Thymus	Thymus
10	chr2:96840400-96849200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:96840400-96849400	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:96840400-96849400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:96840400-96849600	Weak transcription	Primary B cells from peripheral blood	blood
14	chr2:96840400-96849800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:96840400-96850000	Weak transcription	Primary B cells from cord blood	blood
16	chr2:96840400-96850000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:96840400-96850000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr2:96840400-96850000	Weak transcription	Brain Substantia Nigra	brain
19	chr2:96840400-96850000	Weak transcription	Pancreas	Pancrea
20	chr2:96840400-96850000	Weak transcription	Spleen	Spleen
21	chr2:96840400-96850200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:96840400-96850400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:96840400-96850600	Weak transcription	K562	blood
24	chr2:96840400-96851200	Weak transcription	Hela-S3	cervix
25	chr2:96840400-96851600	Weak transcription	Colonic Mucosa	Colon
26	chr2:96840600-96845800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr2:96840600-96846000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr2:96840600-96849800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr2:96840800-96850400	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr2:96841400-96842800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:96841400-96842800	Enhancers	Osteobl	bone
32	chr2:96841600-96842800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:96841600-96843400	Enhancers	Fetal Heart	heart
34	chr2:96842000-96849200	Weak transcription	Left Ventricle	heart
35	chr2:96842000-96849800	Weak transcription	Brain Anterior Caudate	brain
36	chr2:96842200-96843600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr2:96842200-96843800	Weak transcription	GM12878-XiMat	blood
38	chr2:96842200-96849000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:96842200-96849600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr2:96842200-96849800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:96842200-96850000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr2:96842200-96850000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr2:96842400-96849600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:96842400-96850000	Weak transcription	HSMMtube	muscle
45	chr2:96842600-96848600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:96842600-96849200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:96842600-96850000	Weak transcription	Right Ventricle	heart
48	chr2:96842600-96850000	Weak transcription	HSMM	muscle
49	chr2:96842600-96850000	Weak transcription	NHLF	lung
50	chr2:96842600-96850400	Weak transcription	NH-A	brain

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