Variant report

Variant	rs10995555
Chromosome Location	chr10:52833765-52833766
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	POLR2A	chr10:52833661-52833805	H1-hESC	embryonic stem cell:	n/a	n/a
2	RAD21	chr10:52833441-52834820	SK-N-SH_RA	brain:	n/a	chr10:52834326-52834339 chr10:52833797-52833810 chr10:52834336-52834349
3	E2F6	chr10:52833015-52834957	H1-hESC	embryonic stem cell:	n/a	chr10:52833251-52833259 chr10:52834020-52834029 chr10:52833249-52833260 chr10:52833252-52833259 chr10:52833250-52833260 chr10:52834684-52834699 chr10:52833251-52833259 chr10:52834034-52834043
4	TAF1	chr10:52833359-52834761	H1-hESC	embryonic stem cell:	n/a	n/a
5	MXI1	chr10:52833256-52835376	SK-N-SH	brain:	n/a	n/a
6	MAX	chr10:52833408-52834997	H1-hESC	embryonic stem cell:	n/a	n/a
7	USF2	chr10:52833328-52833866	H1-hESC	embryonic stem cell:	n/a	n/a
8	MXI1	chr10:52833222-52835153	IMR90	lung:	n/a	n/a
9	SIN3A	chr10:52833212-52835382	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr10:52833487-52834917	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr10:52833167-52834860	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr10:52833560-52834743	IMR90	lung:	n/a	n/a
13	ZNF263	chr10:52832847-52835072	HEK293-T-REx	kidney:	n/a	chr10:52834013-52834022 chr10:52834309-52834330 chr10:52834289-52834298
14	CTBP2	chr10:52833262-52834832	H1-hESC	embryonic stem cell:	n/a	n/a
15	TBP	chr10:52833286-52834782	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr10:52833530-52834931	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr10:52833762-52833765	ProgFib	skin:	n/a	n/a
18	RAD21	chr10:52833404-52834709	H1-hESC	embryonic stem cell:	n/a	chr10:52834326-52834339 chr10:52833797-52833810 chr10:52834336-52834349
19	POLR2A	chr10:52833410-52834870	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr10:52833327-52834655	Gliobla	brain:	n/a	n/a
21	TAF1	chr10:52833528-52833839	H1-hESC	embryonic stem cell:	n/a	n/a
22	TEAD4	chr10:52833440-52833953	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAX	chr10:52833451-52833851	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr10:52833418-52833806	H1-neurons	neurons:	n/a	n/a
25	NRF1	chr10:52833353-52834743	SK-N-SH	brain:	n/a	chr10:52833541-52833550 chr10:52834191-52834205
26	E2F6	chr10:52833414-52834895	H1-hESC	embryonic stem cell:	n/a	chr10:52834020-52834029 chr10:52834684-52834699 chr10:52834034-52834043
27	RAD21	chr10:52833206-52834919	IMR90	lung:	n/a	chr10:52834326-52834339 chr10:52833797-52833810 chr10:52834336-52834349
28	BACH1	chr10:52833419-52834110	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr10:52833502-52833806	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr10:52833341-52833839	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr10:52833460-52834542	HEK293	kidney:	n/a	n/a

Variant related genes	Relation type
PRKG1	TF binding region

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10740127	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10761774	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10761829	0.80[EUR][1000 genomes]
rs2339627	0.80[EUR][1000 genomes]
rs2339629	0.80[EUR][1000 genomes]
rs2339630	0.80[EUR][1000 genomes]
rs2339631	0.80[EUR][1000 genomes]
rs2339674	0.81[EUR][1000 genomes]
rs2660199	0.94[AMR][1000 genomes]
rs2660200	0.94[AMR][1000 genomes]
rs2660204	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2666536	0.94[AMR][1000 genomes]
rs2666545	0.94[AMR][1000 genomes]
rs2666546	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2666547	0.87[EUR][1000 genomes]
rs2879520	0.80[EUR][1000 genomes]
rs2879521	0.80[EUR][1000 genomes]
rs2879522	0.80[EUR][1000 genomes]
rs4347326	0.80[EUR][1000 genomes]
rs4366435	0.80[EUR][1000 genomes]
rs4436494	0.80[EUR][1000 genomes]
rs4489691	0.80[EUR][1000 genomes]
rs4500435	0.80[EUR][1000 genomes]
rs4576762	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4592377	0.80[EUR][1000 genomes]
rs4935009	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4935218	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4935219	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4935223	0.80[EUR][1000 genomes]
rs4935224	0.80[EUR][1000 genomes]
rs6479912	0.86[EUR][1000 genomes]
rs6479916	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7074204	0.86[EUR][1000 genomes]
rs7074573	0.86[EUR][1000 genomes]
rs7074981	0.91[AMR][1000 genomes]
rs7079409	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7096759	0.80[EUR][1000 genomes]
rs7096925	0.80[EUR][1000 genomes]
rs7097013	0.80[EUR][1000 genomes]
rs7896662	0.80[EUR][1000 genomes]
rs7897669	0.80[EUR][1000 genomes]
rs7897940	0.80[EUR][1000 genomes]
rs7902979	0.80[EUR][1000 genomes]
rs7910047	0.84[EUR][1000 genomes]
rs7913145	0.80[EUR][1000 genomes]
rs7918898	0.80[EUR][1000 genomes]
rs7921037	0.80[EUR][1000 genomes]
rs7921154	0.80[EUR][1000 genomes]
rs7922015	0.80[EUR][1000 genomes]
rs9299466	0.80[EUR][1000 genomes]
rs9414820	0.80[EUR][1000 genomes]
rs9414821	0.80[EUR][1000 genomes]
rs9414824	0.80[EUR][1000 genomes]
rs9415717	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs9415722	0.80[EUR][1000 genomes]
rs9415724	0.80[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	nsv831873	chr10:52710610-52899540	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv895394	chr10:52793177-52866503	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1036645	chr10:52804961-53159076	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52832800-52833800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr10:52832800-52834200	Enhancers	Fetal Brain Male	brain
3	chr10:52832800-52834400	Active TSS	H1 Cell Line	embryonic stem cell
4	chr10:52832800-52835400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr10:52832800-52837400	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr10:52832800-52840000	Active TSS	Aorta	Aorta
7	chr10:52833000-52833800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr10:52833000-52833800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr10:52833000-52833800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
10	chr10:52833000-52833800	Flanking Active TSS	Fetal Brain Female	brain
11	chr10:52833000-52834200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
12	chr10:52833000-52834400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr10:52833000-52834400	Active TSS	Brain Cingulate Gyrus	brain
14	chr10:52833000-52834400	Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr10:52833000-52834600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr10:52833000-52834800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr10:52833000-52835000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
18	chr10:52833000-52835200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
19	chr10:52833000-52835800	Active TSS	Fetal Kidney	kidney
20	chr10:52833000-52836200	Active TSS	Psoas Muscle	Psoas
21	chr10:52833000-52836400	Active TSS	Right Ventricle	heart
22	chr10:52833000-52837000	Active TSS	Right Atrium	heart
23	chr10:52833000-52837600	Active TSS	Colon Smooth Muscle	Colon
24	chr10:52833200-52833800	Flanking Bivalent TSS/Enh	Liver	Liver
25	chr10:52833200-52833800	Flanking Active TSS	Brain Germinal Matrix	brain
26	chr10:52833200-52833800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
27	chr10:52833200-52833800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
28	chr10:52833200-52833800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr10:52833200-52833800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr10:52833200-52833800	Flanking Active TSS	HMEC	breast
31	chr10:52833200-52834200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
32	chr10:52833200-52834400	Active TSS	HSMM	muscle
33	chr10:52833200-52834400	Bivalent/Poised TSS	NHEK	skin
34	chr10:52833200-52834600	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr10:52833200-52834600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
36	chr10:52833200-52834600	Active TSS	Muscle Satellite Cultured Cells	--
37	chr10:52833200-52834800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr10:52833200-52834800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr10:52833200-52834800	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr10:52833200-52834800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
41	chr10:52833200-52834800	Bivalent/Poised TSS	Thymus	Thymus
42	chr10:52833200-52834800	Bivalent/Poised TSS	A549	lung
43	chr10:52833200-52834800	Active TSS	NH-A	brain
44	chr10:52833200-52835000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr10:52833200-52835000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr10:52833200-52835000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
47	chr10:52833200-52835000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
48	chr10:52833200-52835000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr10:52833200-52835000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr10:52833200-52835000	Active TSS	Esophagus	oesophagus

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