Variant report

Variant	rs2281840
Chromosome Location	chr10:45406291-45406292
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr10:45406172-45406735	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
TMEM72	TF binding region

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

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10793562	0.87[ASN][1000 genomes]
rs10793563	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10793564	0.86[ASN][1000 genomes]
rs10900125	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10900126	0.88[ASN][1000 genomes]
rs1332625	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1977324	0.87[ASN][1000 genomes]
rs2026427	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2065466	0.88[ASN][1000 genomes]
rs2183994	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3900184	0.87[ASN][1000 genomes]
rs4147126	0.86[CEU][hapmap];0.81[CHB][hapmap];0.91[EUR][1000 genomes]
rs4245614	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4268464	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4284362	0.83[ASN][1000 genomes]
rs4439464	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4506594	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4948642	0.87[ASN][1000 genomes]
rs4948643	0.87[ASN][1000 genomes]
rs4948644	0.87[ASN][1000 genomes]
rs4948645	0.80[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4948921	0.88[ASN][1000 genomes]
rs4948922	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4948924	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5000415	0.88[ASN][1000 genomes]
rs7082011	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7099692	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7894608	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7900859	0.87[ASN][1000 genomes]
rs7903412	0.88[ASN][1000 genomes]
rs879073	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs879074	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs879343	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs879344	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517161	chr10:45210690-45416256	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv831844	chr10:45228791-45407762	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv831845	chr10:45300268-45460395	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv831846	chr10:45322236-45556370	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45398600-45406800	Weak transcription	Right Ventricle	heart
2	chr10:45399200-45406400	Weak transcription	Right Atrium	heart
3	chr10:45401400-45415600	Weak transcription	Fetal Brain Female	brain
4	chr10:45401600-45410200	Enhancers	Fetal Muscle Leg	muscle
5	chr10:45402000-45407800	Weak transcription	Primary T cells from cord blood	blood
6	chr10:45403200-45409000	Enhancers	Fetal Thymus	thymus
7	chr10:45403600-45406400	Enhancers	Fetal Kidney	kidney
8	chr10:45403800-45406400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr10:45403800-45410000	Enhancers	Pancreas	Pancrea
10	chr10:45404000-45408800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr10:45404200-45406400	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr10:45404400-45407000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr10:45404600-45406600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr10:45404600-45406600	Weak transcription	Lung	lung
15	chr10:45404600-45409400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr10:45405000-45406400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr10:45405000-45406400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr10:45405000-45406600	Weak transcription	Colonic Mucosa	Colon
19	chr10:45405000-45406600	Weak transcription	Gastric	stomach
20	chr10:45405000-45406600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr10:45405000-45408000	Weak transcription	Thymus	Thymus
22	chr10:45405000-45408600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr10:45405400-45406400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr10:45405600-45406400	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr10:45405600-45407600	Enhancers	Fetal Intestine Small	intestine
26	chr10:45405800-45406600	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr10:45405800-45407600	Enhancers	Fetal Intestine Large	intestine
28	chr10:45405800-45409000	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr10:45406000-45406400	Enhancers	Duodenum Mucosa	Duodenum
30	chr10:45406000-45406600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr10:45406000-45407000	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr10:45406000-45407200	Enhancers	Liver	Liver
33	chr10:45406000-45407200	Flanking Bivalent TSS/Enh	HepG2	liver
34	chr10:45406000-45407400	Enhancers	Stomach Mucosa	stomach
35	chr10:45406000-45407800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr10:45406000-45407800	Enhancers	Ovary	ovary
37	chr10:45406200-45406400	Enhancers	Stomach Smooth Muscle	stomach
38	chr10:45406200-45406600	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr10:45406200-45406600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr10:45406200-45406600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr10:45406200-45406600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr10:45406200-45407000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr10:45406200-45407000	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr10:45406200-45407000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr10:45406200-45407200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr10:45406200-45407200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr10:45406200-45407200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr10:45406200-45407200	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr10:45406200-45407200	Enhancers	Fetal Lung	lung
50	chr10:45406200-45407400	Enhancers	H1 Cell Line	embryonic stem cell

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