Variant report

Variant	rs896737
Chromosome Location	chr2:20805023-20805024
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20803733..20805677-chr2:20834978..20836857,2	K562	blood:
2	chr2:20646683..20648541-chr2:20804605..20806271,2	MCF-7	breast:
3	chr2:20792169..20793794-chr2:20803902..20806488,2	K562	blood:
4	chr2:20645830..20649178-chr2:20802657..20807893,7	MCF-7	breast:
5	chr2:20648867..20653601-chr2:20803677..20806150,6	MCF-7	breast:
6	chr2:20673436..20676128-chr2:20804414..20806120,2	MCF-7	breast:
7	chr2:20804020..20806157-chr2:20816542..20819817,4	MCF-7	breast:
8	chr2:20801916..20805511-chr2:20814938..20817926,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000231948	Chromatin interaction
ENSG00000143878	Chromatin interaction
ENSG00000228950	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11885876	1.00[JPT][hapmap]
rs55793738	0.87[EUR][1000 genomes]
rs57360378	0.87[EUR][1000 genomes]
rs58726406	0.87[EUR][1000 genomes]
rs59618840	0.87[EUR][1000 genomes]
rs60631754	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60759855	0.87[EUR][1000 genomes]
rs61272752	0.87[EUR][1000 genomes]
rs62124220	0.85[EUR][1000 genomes]
rs62124225	0.87[EUR][1000 genomes]
rs62124226	0.87[EUR][1000 genomes]
rs62124227	0.87[EUR][1000 genomes]
rs62124228	0.87[EUR][1000 genomes]
rs62124229	0.87[EUR][1000 genomes]
rs62124230	0.87[EUR][1000 genomes]
rs62124231	0.87[EUR][1000 genomes]
rs62124232	0.87[EUR][1000 genomes]
rs62124234	0.87[EUR][1000 genomes]
rs62125670	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62125672	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62125673	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62125674	0.84[AMR][1000 genomes]
rs62125676	0.84[AMR][1000 genomes]
rs62125677	0.84[AMR][1000 genomes]
rs7340497	1.00[JPT][hapmap]
rs73916905	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73919926	0.87[EUR][1000 genomes]
rs73919928	0.87[EUR][1000 genomes]
rs73919930	0.87[EUR][1000 genomes]
rs7588678	1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs7595132	1.00[JPT][hapmap]

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	nsv833537	chr2:20630092-20826816	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv833548	chr2:20682073-20864078	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1012037	chr2:20770850-20824893	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535598	chr2:20770850-20824893	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv581167	chr2:20791125-20827846	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20797000-20810600	Weak transcription	Colonic Mucosa	Colon
2	chr2:20797600-20810600	Weak transcription	Fetal Kidney	kidney
3	chr2:20797800-20810800	Weak transcription	Gastric	stomach
4	chr2:20799200-20809800	Weak transcription	Spleen	Spleen
5	chr2:20799800-20808600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:20800000-20809200	Weak transcription	Aorta	Aorta
7	chr2:20800000-20809400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:20800200-20808400	Weak transcription	Fetal Intestine Large	intestine
9	chr2:20800400-20809800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:20801200-20808400	Weak transcription	HepG2	liver
11	chr2:20803200-20814000	Weak transcription	HSMM	muscle
12	chr2:20803600-20805400	Enhancers	Left Ventricle	heart
13	chr2:20803600-20806400	Enhancers	Colon Smooth Muscle	Colon
14	chr2:20803800-20805200	Enhancers	Brain Substantia Nigra	brain
15	chr2:20803800-20805200	Enhancers	Fetal Muscle Trunk	muscle
16	chr2:20803800-20805200	Enhancers	Right Atrium	heart
17	chr2:20803800-20805800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr2:20804000-20805200	Enhancers	Esophagus	oesophagus
19	chr2:20804000-20805200	Enhancers	Lung	lung
20	chr2:20804000-20805200	Enhancers	Psoas Muscle	Psoas
21	chr2:20804000-20805200	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr2:20804000-20805400	Enhancers	Adipose Nuclei	Adipose
23	chr2:20804000-20805400	Enhancers	Fetal Muscle Leg	muscle
24	chr2:20804000-20805600	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr2:20804000-20805800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr2:20804200-20805200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:20804200-20805200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:20804200-20805200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:20804200-20805200	Enhancers	Brain Cingulate Gyrus	brain
30	chr2:20804200-20805200	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr2:20804200-20805200	Enhancers	Fetal Stomach	stomach
32	chr2:20804200-20805200	Enhancers	Ovary	ovary
33	chr2:20804200-20805200	Enhancers	Right Ventricle	heart
34	chr2:20804200-20805400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:20804200-20805400	Enhancers	Brain Angular Gyrus	brain
36	chr2:20804200-20805400	Enhancers	Brain Anterior Caudate	brain
37	chr2:20804200-20805400	Enhancers	NHDF-Ad	bronchial
38	chr2:20804200-20805600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:20804200-20805600	Enhancers	Fetal Brain Male	brain
40	chr2:20804200-20805800	Enhancers	Brain Hippocampus Middle	brain
41	chr2:20804400-20805200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:20804400-20805200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:20804400-20805200	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr2:20804400-20805200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:20804400-20805200	Flanking Active TSS	Rectal Smooth Muscle	rectum
46	chr2:20804400-20805200	Flanking Active TSS	Stomach Smooth Muscle	stomach
47	chr2:20804400-20805200	Enhancers	HUVEC	blood vessel
48	chr2:20804400-20805200	Enhancers	NH-A	brain
49	chr2:20804400-20805200	Enhancers	NHEK	skin
50	chr2:20804400-20805200	Enhancers	NHLF	lung

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