Variant report

Variant	rs2281841
Chromosome Location	chr10:45406608-45406609
allele	C/T
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	MAZ	chr10:45406544-45406760	K562	blood:	n/a	n/a
2	KAP1	chr10:45406413-45406943	HEK293	kidney:	n/a	n/a
3	BHLHE40	chr10:45406532-45407105	HepG2	liver:	n/a	n/a
4	UBTF	chr10:45406488-45406811	K562	blood:	n/a	n/a
5	GATA2	chr10:45406534-45406739	K562	blood:	n/a	n/a
6	CHD2	chr10:45406524-45406783	H1-hESC	embryonic stem cell:	n/a	n/a
7	EP300	chr10:45406551-45406712	HepG2	liver:	n/a	chr10:45406656-45406672
8	RCOR1	chr10:45406599-45406710	K562	blood:	n/a	n/a
9	TBP	chr10:45406484-45406857	H1-hESC	embryonic stem cell:	n/a	n/a
10	ARID3A	chr10:45406172-45406735	HepG2	liver:	n/a	n/a
11	RAD21	chr10:45406603-45406736	HepG2	liver:	n/a	n/a
12	MAX	chr10:45406511-45406813	K562	blood:	n/a	n/a
13	CCNT2	chr10:45406598-45406798	K562	blood:	n/a	n/a
14	RCOR1	chr10:45406608-45406662	K562	blood:	n/a	n/a
15	RAD21	chr10:45406511-45406856	H1-hESC	embryonic stem cell:	n/a	chr10:45406838-45406851
16	ZNF263	chr10:45406377-45406849	HEK293-T-REx	kidney:	n/a	chr10:45406583-45406592
17	MAZ	chr10:45406454-45406845	HepG2	liver:	n/a	n/a
18	NANOG	chr10:45406452-45406831	H1-hESC	embryonic stem cell:	n/a	n/a
19	ZBTB7A	chr10:45406482-45406715	K562	blood:	n/a	n/a
20	ZNF143	chr10:45406538-45406828	H1-hESC	embryonic stem cell:	n/a	n/a
21	UBTF	chr10:45406520-45406813	K562	blood:	n/a	n/a

Variant related genes	Relation type
TMEM72	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10736831	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10751360	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10751361	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10793564	0.87[EUR][1000 genomes]
rs10793565	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10900123	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10900126	0.87[EUR][1000 genomes]
rs10900128	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11239271	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12777258	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1408814	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2026428	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2065466	0.87[EUR][1000 genomes]
rs3740087	0.81[ASN][1000 genomes]
rs4245614	0.91[EUR][1000 genomes]
rs4268464	0.93[EUR][1000 genomes]
rs4481983	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4948645	0.90[EUR][1000 genomes]
rs4948925	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4948926	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4948927	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5000415	0.88[EUR][1000 genomes]
rs6593447	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7079573	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7903412	0.87[EUR][1000 genomes]
rs7909074	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs879073	0.92[EUR][1000 genomes]
rs879074	0.92[EUR][1000 genomes]
rs914699	0.81[EUR][1000 genomes];0.81[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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45398600-45406800	Weak transcription	Right Ventricle	heart
2	chr10:45401400-45415600	Weak transcription	Fetal Brain Female	brain
3	chr10:45401600-45410200	Enhancers	Fetal Muscle Leg	muscle
4	chr10:45402000-45407800	Weak transcription	Primary T cells from cord blood	blood
5	chr10:45403200-45409000	Enhancers	Fetal Thymus	thymus
6	chr10:45403800-45410000	Enhancers	Pancreas	Pancrea
7	chr10:45404000-45408800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr10:45404400-45407000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr10:45404600-45409400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr10:45405000-45408000	Weak transcription	Thymus	Thymus
11	chr10:45405000-45408600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr10:45405600-45407600	Enhancers	Fetal Intestine Small	intestine
13	chr10:45405800-45407600	Enhancers	Fetal Intestine Large	intestine
14	chr10:45405800-45409000	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr10:45406000-45407000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr10:45406000-45407200	Enhancers	Liver	Liver
17	chr10:45406000-45407200	Flanking Bivalent TSS/Enh	HepG2	liver
18	chr10:45406000-45407400	Enhancers	Stomach Mucosa	stomach
19	chr10:45406000-45407800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr10:45406000-45407800	Enhancers	Ovary	ovary
21	chr10:45406200-45407000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr10:45406200-45407000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr10:45406200-45407000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr10:45406200-45407200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr10:45406200-45407200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr10:45406200-45407200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr10:45406200-45407200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr10:45406200-45407200	Enhancers	Fetal Lung	lung
29	chr10:45406200-45407400	Enhancers	H1 Cell Line	embryonic stem cell
30	chr10:45406200-45407600	Enhancers	Spleen	Spleen
31	chr10:45406200-45408800	Enhancers	Fetal Heart	heart
32	chr10:45406400-45406800	Enhancers	HSMMtube	muscle
33	chr10:45406400-45407000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr10:45406400-45407000	Enhancers	Brain Anterior Caudate	brain
35	chr10:45406400-45407200	Enhancers	Right Atrium	heart
36	chr10:45406400-45407600	Active TSS	Rectal Smooth Muscle	rectum
37	chr10:45406400-45408400	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr10:45406400-45408800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr10:45406400-45409000	Enhancers	K562	blood
40	chr10:45406400-45419000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr10:45406600-45406800	Enhancers	Primary hematopoietic stem cells	blood
42	chr10:45406600-45406800	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr10:45406600-45406800	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr10:45406600-45407000	Enhancers	Duodenum Mucosa	Duodenum
45	chr10:45406600-45407000	Enhancers	Placenta Amnion	Placenta Amnion
46	chr10:45406600-45407200	Enhancers	Esophagus	oesophagus
47	chr10:45406600-45407400	Flanking Active TSS	Colonic Mucosa	Colon
48	chr10:45406600-45407600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr10:45406600-45407600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
50	chr10:45406600-45407600	Enhancers	Gastric	stomach

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