Variant report

Variant	rs13416287
Chromosome Location	chr2:100889941-100889942
allele	G/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:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:100889734..100892387-chr2:100894047..100896646,2	K562	blood:
2	chr2:100889062..100891590-chr2:100897869..100900179,3	MCF-7	breast:
3	chr2:100889401..100893026-chr2:100904259..100909793,5	MCF-7	breast:
4	chr2:100881738..100884952-chr2:100887555..100890244,3	MCF-7	breast:
5	chr2:100887980..100890347-chr2:100906577..100908691,2	K562	blood:
6	chr2:100886067..100888697-chr2:100889911..100892132,2	MCF-7	breast:
7	chr2:100888847..100890677-chr2:100907191..100910178,2	K562	blood:
8	chr2:100889150..100891332-chr2:100937464..100940640,3	MCF-7	breast:
9	chr2:100887822..100891668-chr2:100905183..100909067,4	MCF-7	breast:
10	chr2:100889322..100890930-chr2:101005825..101008578,2	K562	blood:
11	chr2:100885390..100890009-chr2:100935265..100941023,7	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHST10-2	chr2:100889909-100890784	NONHSAT072773

No data

Variant related genes	Relation type
ENSG00000170500	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10169580	1.00[EUR][1000 genomes]
rs10178929	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10183462	1.00[EUR][1000 genomes]
rs10186689	1.00[EUR][1000 genomes]
rs10187094	1.00[EUR][1000 genomes]
rs10188619	1.00[EUR][1000 genomes]
rs10190243	1.00[EUR][1000 genomes]
rs10191099	1.00[EUR][1000 genomes]
rs10191655	1.00[EUR][1000 genomes]
rs10193186	1.00[EUR][1000 genomes]
rs10194087	1.00[EUR][1000 genomes]
rs10194280	1.00[EUR][1000 genomes]
rs10197013	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10205784	1.00[EUR][1000 genomes]
rs10207091	1.00[EUR][1000 genomes]
rs10207566	1.00[EUR][1000 genomes]
rs1107428	1.00[EUR][1000 genomes]
rs11123831	1.00[EUR][1000 genomes]
rs12329351	1.00[EUR][1000 genomes]
rs13391540	1.00[EUR][1000 genomes]
rs13407391	1.00[EUR][1000 genomes]
rs13413021	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13417574	1.00[EUR][1000 genomes]
rs13425645	1.00[EUR][1000 genomes]
rs13427376	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28485289	1.00[EUR][1000 genomes]
rs28549897	1.00[EUR][1000 genomes]
rs28631885	1.00[EUR][1000 genomes]
rs28757637	1.00[EUR][1000 genomes]
rs4597550	1.00[EUR][1000 genomes]
rs56377332	1.00[EUR][1000 genomes]
rs57231149	1.00[EUR][1000 genomes]
rs60292856	1.00[EUR][1000 genomes]
rs6542927	1.00[EUR][1000 genomes]
rs6542928	1.00[EUR][1000 genomes]
rs6542935	1.00[EUR][1000 genomes]
rs6723222	1.00[EUR][1000 genomes]
rs6733677	1.00[EUR][1000 genomes]
rs6734881	1.00[EUR][1000 genomes]
rs6742048	1.00[EUR][1000 genomes]
rs6743560	1.00[EUR][1000 genomes]
rs6755284	1.00[EUR][1000 genomes]
rs6759686	1.00[EUR][1000 genomes]
rs72954123	1.00[EUR][1000 genomes]
rs72966498	1.00[EUR][1000 genomes]
rs72968866	1.00[EUR][1000 genomes]
rs73964443	1.00[EUR][1000 genomes]
rs73968406	1.00[EUR][1000 genomes]
rs7563954	1.00[EUR][1000 genomes]
rs7564318	1.00[EUR][1000 genomes]
rs7569334	1.00[EUR][1000 genomes]
rs7580252	1.00[AMR][1000 genomes]
rs7585806	1.00[EUR][1000 genomes]
rs9808480	1.00[EUR][1000 genomes]
rs995110	1.00[EUR][1000 genomes]
rs995132	1.00[EUR][1000 genomes]
rs995133	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv834311	chr2:100816917-100990036	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100874600-100891400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:100879400-100891200	Weak transcription	Brain Anterior Caudate	brain
3	chr2:100879400-100896200	Weak transcription	Spleen	Spleen
4	chr2:100879400-100900200	Weak transcription	Brain Substantia Nigra	brain
5	chr2:100880000-100891400	Weak transcription	Brain Germinal Matrix	brain
6	chr2:100880200-100898400	Weak transcription	A549	lung
7	chr2:100884200-100900200	Weak transcription	Brain Angular Gyrus	brain
8	chr2:100884800-100897400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:100885400-100891200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:100885600-100898200	Weak transcription	Brain Hippocampus Middle	brain
11	chr2:100885600-100902000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:100886000-100891200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr2:100886400-100891000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr2:100887000-100900200	Weak transcription	Left Ventricle	heart
15	chr2:100887200-100891200	Weak transcription	Gastric	stomach
16	chr2:100887200-100898000	Weak transcription	Fetal Brain Female	brain
17	chr2:100887800-100890600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:100887800-100891200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:100887800-100891200	Weak transcription	Pancreas	Pancrea
20	chr2:100887800-100895000	Weak transcription	K562	blood
21	chr2:100887800-100901800	Weak transcription	Fetal Intestine Small	intestine
22	chr2:100888000-100891200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr2:100888000-100898000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:100888200-100896000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:100888400-100894600	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr2:100888600-100891400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr2:100889000-100891000	Weak transcription	Ovary	ovary
28	chr2:100889400-100890000	Enhancers	Fetal Lung	lung
29	chr2:100889400-100900200	Weak transcription	Colon Smooth Muscle	Colon
30	chr2:100889600-100890000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:100889600-100891400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr2:100889600-100898200	Weak transcription	Fetal Brain Male	brain
33	chr2:100889600-100898400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:100889800-100891200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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