Variant report

Variant	rs10865038
Chromosome Location	chr2:100897008-100897009
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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:100893699..100897169-chr2:100899587..100903259,4	MCF-7	breast:
2	chr2:100896929..100899724-chr2:100932462..100934829,2	K562	blood:
3	chr2:100895235..100899399-chr2:100936905..100939740,4	K562	blood:
4	chr2:100895478..100897134-chr2:100908252..100910044,2	K562	blood:
5	chr2:100881197..100884068-chr2:100895021..100897043,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHST10-2	chr2:100892673-100898479	NONHSAT072773

No data

Variant related genes	Relation type
ENSG00000170500	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10865039	0.81[EUR][1000 genomes]
rs13008568	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13024601	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13031270	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13031493	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13031712	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13033057	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2033748	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2033749	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2309817	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2309818	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2309819	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2309820	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2309821	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2309822	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2309823	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2309824	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2309825	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2309826	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4851285	0.81[EUR][1000 genomes]
rs4851286	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4851287	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6755791	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7421891	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7557575	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7557660	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7557977	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7559464	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7562372	0.82[EUR][1000 genomes]
rs7582180	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7588623	0.82[EUR][1000 genomes]
rs7601442	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7607170	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7607676	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7609376	0.93[AMR][1000 genomes];0.90[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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100879400-100900200	Weak transcription	Brain Substantia Nigra	brain
2	chr2:100880200-100898400	Weak transcription	A549	lung
3	chr2:100884200-100900200	Weak transcription	Brain Angular Gyrus	brain
4	chr2:100884800-100897400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:100885600-100898200	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:100885600-100902000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr2:100887000-100900200	Weak transcription	Left Ventricle	heart
8	chr2:100887200-100898000	Weak transcription	Fetal Brain Female	brain
9	chr2:100887800-100901800	Weak transcription	Fetal Intestine Small	intestine
10	chr2:100888000-100898000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:100889400-100900200	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:100889600-100898200	Weak transcription	Fetal Brain Male	brain
13	chr2:100889600-100898400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:100890600-100900200	Weak transcription	Right Ventricle	heart
15	chr2:100891400-100900000	Weak transcription	Aorta	Aorta
16	chr2:100891800-100900200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:100891800-100907600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr2:100892000-100898000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:100892000-100898600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:100892000-100902000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:100892000-100904000	Weak transcription	Gastric	stomach
22	chr2:100892200-100898200	Weak transcription	Brain Germinal Matrix	brain
23	chr2:100892200-100900200	Weak transcription	Pancreas	Pancrea
24	chr2:100892200-100909800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr2:100892400-100900600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr2:100894400-100900400	Weak transcription	Brain Anterior Caudate	brain
27	chr2:100894600-100897600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr2:100895600-100900200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr2:100896000-100897400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:100896200-100897600	Weak transcription	Dnd41	blood
31	chr2:100896600-100898000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr2:100896600-100899000	Enhancers	H1 Cell Line	embryonic stem cell
33	chr2:100896600-100900000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr2:100896600-100907000	Weak transcription	Spleen	Spleen
35	chr2:100896600-100907600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr2:100896800-100897800	Enhancers	K562	blood
37	chr2:100896800-100898200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr2:100896800-100898400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr2:100896800-100898800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:100897000-100897400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr2:100897000-100898200	Weak transcription	Ovary	ovary

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