Variant report

Variant	rs2016759
Chromosome Location	chr2:96841648-96841649
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	chr2:96839818..96843636-chr2:96856323..96861467,4	K562	blood:
3	chr2:96838596..96845303-chr2:96871410..96876141,7	K562	blood:

Variant related genes	Relation type
ENSG00000204685	Chromatin interaction
ENSG00000084090	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11551400	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11886999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57251156	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61697794	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6725867	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6725872	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7579553	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[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:50 , 50 per page) page: 1

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	chr2:96839800-96842200	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr2:96840400-96841800	Weak transcription	Right Atrium	heart
7	chr2:96840400-96841800	Weak transcription	HSMMtube	muscle
8	chr2:96840400-96845600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr2:96840400-96845800	Weak transcription	Primary T cells from cord blood	blood
10	chr2:96840400-96845800	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr2:96840400-96845800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr2:96840400-96848600	Weak transcription	Thymus	Thymus
13	chr2:96840400-96849200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr2:96840400-96849400	Weak transcription	Brain Hippocampus Middle	brain
15	chr2:96840400-96849400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:96840400-96849600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr2:96840400-96849800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr2:96840400-96850000	Weak transcription	Primary B cells from cord blood	blood
19	chr2:96840400-96850000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr2:96840400-96850000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr2:96840400-96850000	Weak transcription	Brain Substantia Nigra	brain
22	chr2:96840400-96850000	Weak transcription	Pancreas	Pancrea
23	chr2:96840400-96850000	Weak transcription	Spleen	Spleen
24	chr2:96840400-96850200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:96840400-96850400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:96840400-96850600	Weak transcription	K562	blood
27	chr2:96840400-96851200	Weak transcription	Hela-S3	cervix
28	chr2:96840400-96851600	Weak transcription	Colonic Mucosa	Colon
29	chr2:96840600-96841800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:96840600-96845800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr2:96840600-96846000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr2:96840600-96849800	Weak transcription	Duodenum Mucosa	Duodenum
33	chr2:96840800-96841800	Weak transcription	HSMM	muscle
34	chr2:96840800-96850400	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr2:96841000-96841800	Weak transcription	GM12878-XiMat	blood
36	chr2:96841400-96842200	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr2:96841400-96842800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:96841400-96842800	Enhancers	Osteobl	bone
39	chr2:96841600-96842000	Enhancers	Left Ventricle	heart
40	chr2:96841600-96842200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:96841600-96842200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:96841600-96842200	Enhancers	Muscle Satellite Cultured Cells	--
43	chr2:96841600-96842200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr2:96841600-96842400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:96841600-96842600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:96841600-96842600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:96841600-96842600	Enhancers	NHDF-Ad	bronchial
48	chr2:96841600-96842600	Enhancers	NHLF	lung
49	chr2:96841600-96842800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:96841600-96843400	Enhancers	Fetal Heart	heart

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