Variant report

Variant	rs9309623
Chromosome Location	chr2:85940379-85940380
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:85932175..85937503-chr2:85937871..85941981,7	K562	blood:
2	chr2:85939136..85942030-chr2:85944013..85946207,3	K562	blood:
3	chr2:85938431..85940449-chr2:85945022..85946831,2	MCF-7	breast:
4	chr2:85934009..85937395-chr2:85940314..85944557,5	MCF-7	breast:
5	chr2:85939322..85942030-chr2:85943448..85946013,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11885917	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11887600	1.00[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11887686	1.00[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11896795	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11899443	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17026578	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72926903	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73943282	1.00[ASN][1000 genomes]
rs73943284	1.00[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	nsv874460	chr2:85828014-85941074	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv874462	chr2:85853653-85941074	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv874463	chr2:85853653-85946708	Strong transcription Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv874467	chr2:85916487-85946708	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv874468	chr2:85926598-86001255	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85926000-85945200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr2:85931200-85941600	Enhancers	Liver	Liver
3	chr2:85931600-85941000	Enhancers	Primary hematopoietic stem cells	blood
4	chr2:85932400-85941400	Enhancers	Brain Hippocampus Middle	brain
5	chr2:85932800-85946600	Weak transcription	Colon Smooth Muscle	Colon
6	chr2:85934200-85941400	Enhancers	Brain Anterior Caudate	brain
7	chr2:85934800-85940400	Weak transcription	HMEC	breast
8	chr2:85935800-85941200	Enhancers	Brain Substantia Nigra	brain
9	chr2:85935800-85941400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:85935800-85941400	Enhancers	Ovary	ovary
11	chr2:85936000-85940600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr2:85936400-85940600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
13	chr2:85936400-85941600	Enhancers	Right Atrium	heart
14	chr2:85936600-85940400	Enhancers	K562	blood
15	chr2:85936600-85940800	Enhancers	Placenta	Placenta
16	chr2:85936600-85941400	Enhancers	Fetal Lung	lung
17	chr2:85937000-85940600	Enhancers	Duodenum Mucosa	Duodenum
18	chr2:85937000-85940600	Enhancers	Fetal Thymus	thymus
19	chr2:85937000-85941400	Enhancers	Lung	lung
20	chr2:85937000-85941400	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr2:85937000-85941400	Enhancers	Spleen	Spleen
22	chr2:85937200-85942200	Enhancers	Stomach Mucosa	stomach
23	chr2:85937600-85943400	Weak transcription	Fetal Heart	heart
24	chr2:85937800-85941200	Enhancers	Fetal Muscle Leg	muscle
25	chr2:85937800-85944800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:85938400-85941600	Enhancers	Left Ventricle	heart
27	chr2:85938600-85940800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:85938600-85941000	Weak transcription	Gastric	stomach
29	chr2:85938800-85941600	Enhancers	Adipose Nuclei	Adipose
30	chr2:85939000-85940400	Weak transcription	Fetal Kidney	kidney
31	chr2:85939200-85946600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr2:85939400-85940600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:85939600-85940600	Weak transcription	Brain Angular Gyrus	brain
34	chr2:85939600-85941400	Enhancers	Psoas Muscle	Psoas
35	chr2:85939800-85940400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:85939800-85940400	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr2:85939800-85940600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:85939800-85940800	Enhancers	Fetal Muscle Trunk	muscle
39	chr2:85939800-85940800	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr2:85939800-85941200	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr2:85940000-85940400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:85940000-85940800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:85940000-85941200	Enhancers	Muscle Satellite Cultured Cells	--
44	chr2:85940000-85941400	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr2:85940000-85941400	Enhancers	Pancreas	Pancrea
46	chr2:85940000-85941600	Enhancers	Right Ventricle	heart
47	chr2:85940000-85941800	Weak transcription	Thymus	Thymus
48	chr2:85940000-85942400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:85940000-85944000	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr2:85940200-85940400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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