Variant report

Variant	rs12987883
Chromosome Location	chr2:20803470-20803471
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20801637..20803782-chr2:20817932..20820325,2	MCF-7	breast:
2	chr2:20803088..20804929-chr2:20807955..20810549,2	K562	blood:
3	chr2:20645830..20649178-chr2:20802657..20807893,7	MCF-7	breast:
4	chr2:20801916..20805511-chr2:20814938..20817926,3	MCF-7	breast:
5	chr2:20777789..20780759-chr2:20800338..20803588,3	K562	blood:

Variant related genes	Relation type
ENSG00000143878	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2164400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56210119	0.98[ASN][1000 genomes]
rs56262828	0.83[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs57737883	0.91[ASN][1000 genomes]

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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20796200-20804200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:20796600-20804400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:20797000-20803800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:20797000-20810600	Weak transcription	Colonic Mucosa	Colon
5	chr2:20797600-20810600	Weak transcription	Fetal Kidney	kidney
6	chr2:20797800-20804000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr2:20797800-20804400	Weak transcription	Fetal Lung	lung
8	chr2:20797800-20804400	Weak transcription	NH-A	brain
9	chr2:20797800-20804400	Weak transcription	NHLF	lung
10	chr2:20797800-20810800	Weak transcription	Gastric	stomach
11	chr2:20798200-20804200	Weak transcription	Ovary	ovary
12	chr2:20799200-20804600	Weak transcription	Brain Germinal Matrix	brain
13	chr2:20799200-20809800	Weak transcription	Spleen	Spleen
14	chr2:20799400-20804600	Weak transcription	HMEC	breast
15	chr2:20799800-20804000	Weak transcription	Esophagus	oesophagus
16	chr2:20799800-20804000	Weak transcription	Psoas Muscle	Psoas
17	chr2:20799800-20804000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr2:20799800-20804200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:20799800-20804200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:20799800-20804400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:20799800-20804600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:20799800-20808600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:20800000-20803600	Weak transcription	Colon Smooth Muscle	Colon
24	chr2:20800000-20804000	Weak transcription	Fetal Muscle Leg	muscle
25	chr2:20800000-20804200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:20800000-20804200	Weak transcription	Fetal Brain Male	brain
27	chr2:20800000-20809200	Weak transcription	Aorta	Aorta
28	chr2:20800000-20809400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr2:20800200-20803800	Weak transcription	Right Atrium	heart
30	chr2:20800200-20804000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr2:20800200-20804200	Weak transcription	Right Ventricle	heart
32	chr2:20800200-20808400	Weak transcription	Fetal Intestine Large	intestine
33	chr2:20800400-20803600	Weak transcription	Left Ventricle	heart
34	chr2:20800400-20803800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr2:20800400-20804000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr2:20800400-20804000	Weak transcription	Lung	lung
37	chr2:20800400-20804400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr2:20800400-20804800	Weak transcription	Placenta	Placenta
39	chr2:20800400-20809800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:20801000-20804000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr2:20801000-20804000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr2:20801000-20804800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:20801200-20803800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr2:20801200-20803800	Weak transcription	Brain Substantia Nigra	brain
45	chr2:20801200-20804000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr2:20801200-20804000	Weak transcription	Adipose Nuclei	Adipose
47	chr2:20801200-20804200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:20801200-20804200	Weak transcription	Brain Anterior Caudate	brain
49	chr2:20801200-20804200	Weak transcription	Brain Cingulate Gyrus	brain
50	chr2:20801200-20804200	Weak transcription	Brain Inferior Temporal Lobe	brain

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