Variant report

Variant	rs62153026
Chromosome Location	chr2:96910053-96910054
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:96873259..96876819-chr2:96908137..96913044,5	K562	blood:
2	chr2:96901752..96905157-chr2:96907799..96911905,3	K562	blood:
3	chr2:96899383..96903378-chr2:96907074..96910102,4	K562	blood:

Variant related genes	Relation type
ENSG00000084090	Chromatin interaction
ENSG00000204685	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs62152962	1.00[AFR][1000 genomes]
rs62153019	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62153027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62153038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62154612	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv834305	chr2:96848898-97019476	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
8	nsv874679	chr2:96860971-97184160	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96876000-96915200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr2:96876200-96916000	Weak transcription	Dnd41	blood
3	chr2:96876200-96917800	Weak transcription	Brain Angular Gyrus	brain
4	chr2:96877800-96916000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:96889600-96915800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:96891200-96916200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:96891400-96916400	Weak transcription	HSMM	muscle
8	chr2:96896200-96917600	Weak transcription	Pancreas	Pancrea
9	chr2:96896600-96911200	Weak transcription	K562	blood
10	chr2:96899600-96918800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:96900000-96917800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:96900400-96917600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:96901800-96914600	Weak transcription	Ovary	ovary
14	chr2:96902600-96917600	Weak transcription	Fetal Lung	lung
15	chr2:96903800-96912600	Weak transcription	Stomach Mucosa	stomach
16	chr2:96904200-96917600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:96905000-96917400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr2:96905200-96918200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:96905400-96917200	Weak transcription	Fetal Brain Female	brain
20	chr2:96905600-96917400	Weak transcription	Brain Germinal Matrix	brain
21	chr2:96905800-96915200	Weak transcription	HSMMtube	muscle
22	chr2:96905800-96916000	Weak transcription	Gastric	stomach
23	chr2:96905800-96917200	Weak transcription	HepG2	liver
24	chr2:96905800-96917800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:96905800-96918400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr2:96906600-96913400	Weak transcription	Liver	Liver
27	chr2:96906800-96911400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:96906800-96915200	Weak transcription	Fetal Intestine Large	intestine
29	chr2:96906800-96917600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:96907000-96916000	Weak transcription	Aorta	Aorta
31	chr2:96907000-96917600	Weak transcription	Fetal Brain Male	brain
32	chr2:96907200-96914600	Weak transcription	Placenta	Placenta
33	chr2:96907200-96915200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr2:96907400-96915200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr2:96907400-96917800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr2:96907400-96918800	Weak transcription	Small Intestine	intestine
37	chr2:96907600-96914400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr2:96907800-96910400	Weak transcription	Spleen	Spleen
39	chr2:96908000-96911400	Weak transcription	Right Ventricle	heart
40	chr2:96908000-96911800	Weak transcription	Lung	lung
41	chr2:96908000-96912400	Weak transcription	Left Ventricle	heart
42	chr2:96908000-96912800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr2:96908000-96914600	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr2:96908000-96914600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr2:96908000-96915800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr2:96908000-96917600	Weak transcription	Esophagus	oesophagus
47	chr2:96908000-96917600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr2:96908200-96910200	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr2:96908200-96911200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:96908200-96912800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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