Variant report

Variant	rs72631839
Chromosome Location	chr10:28035428-28035429
allele	C/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	POLR2A	chr10:28035386-28035628	H1-hESC	embryonic stem cell:	n/a	n/a
2	E2F6	chr10:28033207-28035994	H1-hESC	embryonic stem cell:	n/a	chr10:28034540-28034552 chr10:28035814-28035831 chr10:28035492-28035509 chr10:28034866-28034875 chr10:28034437-28034446 chr10:28034676-28034688 chr10:28035814-28035831
3	SIN3A	chr10:28034402-28036216	H1-hESC	embryonic stem cell:	n/a	chr10:28034660-28034671
4	TBP	chr10:28034447-28035726	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr10:28034385-28035745	H1-neurons	neurons:	n/a	n/a
6	SUZ12	chr10:28031619-28036341	NT2-D1	testis:	n/a	n/a
7	E2F6	chr10:28033240-28035815	H1-hESC	embryonic stem cell:	n/a	chr10:28034540-28034552 chr10:28035492-28035509 chr10:28034866-28034875 chr10:28034437-28034446 chr10:28034676-28034688
8	YY1	chr10:28035064-28035914	H1-hESC	embryonic stem cell:	n/a	chr10:28035849-28035860 chr10:28035398-28035412
9	MAX	chr10:28033342-28035730	H1-hESC	embryonic stem cell:	n/a	chr10:28034714-28034730
10	MAX	chr10:28034368-28035627	H1-hESC	embryonic stem cell:	n/a	chr10:28034714-28034730
11	CTBP2	chr10:28029973-28035811	H1-hESC	embryonic stem cell:	n/a	n/a
12	KAP1	chr10:28034527-28035477	HEK293	kidney:	n/a	n/a

Variant related genes	Relation type
MKX	TF binding region

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1002861	1.00[EUR][1000 genomes]
rs1027342	1.00[EUR][1000 genomes]
rs10430558	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10430568	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1055192	0.99[ASN][1000 genomes]
rs10764718	1.00[EUR][1000 genomes]
rs10764719	1.00[EUR][1000 genomes]
rs10826346	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10829285	1.00[EUR][1000 genomes]
rs10829286	1.00[EUR][1000 genomes]
rs10829294	1.00[EUR][1000 genomes]
rs10829296	1.00[EUR][1000 genomes]
rs10829302	1.00[EUR][1000 genomes]
rs10829304	1.00[EUR][1000 genomes]
rs10829305	1.00[EUR][1000 genomes]
rs11006694	0.97[ASN][1000 genomes]
rs11006697	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11006698	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11006699	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11006700	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11006703	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11006704	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11006705	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11006707	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11006708	0.87[ASN][1000 genomes]
rs11006714	0.84[ASN][1000 genomes]
rs11006715	0.84[ASN][1000 genomes]
rs11006719	0.81[ASN][1000 genomes]
rs11006720	0.81[ASN][1000 genomes]
rs11015875	0.86[EUR][1000 genomes]
rs11015898	1.00[EUR][1000 genomes]
rs11015923	1.00[EUR][1000 genomes]
rs11015927	1.00[EUR][1000 genomes]
rs11015928	1.00[EUR][1000 genomes]
rs11015936	1.00[EUR][1000 genomes]
rs11015938	1.00[EUR][1000 genomes]
rs11015946	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11015948	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11015957	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11015958	0.86[EUR][1000 genomes]
rs11015969	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11015973	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11015980	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11015981	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12217955	1.00[EUR][1000 genomes]
rs12218027	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12219258	0.86[EUR][1000 genomes]
rs12219955	1.00[EUR][1000 genomes]
rs12220217	1.00[EUR][1000 genomes]
rs12257550	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12264856	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12411804	0.86[EUR][1000 genomes]
rs12569521	1.00[EUR][1000 genomes]
rs12572531	1.00[EUR][1000 genomes]
rs1907388	0.86[EUR][1000 genomes]
rs57812861	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72629762	0.86[EUR][1000 genomes]
rs72629763	0.86[EUR][1000 genomes]
rs72629764	0.86[EUR][1000 genomes]
rs72629766	1.00[EUR][1000 genomes]
rs72629767	1.00[EUR][1000 genomes]
rs72629772	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72629774	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72629775	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72629776	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72629777	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72629778	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72631837	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72631838	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72631840	0.88[ASN][1000 genomes]
rs72631841	0.86[ASN][1000 genomes]
rs72631842	0.84[ASN][1000 genomes]
rs72631843	0.84[ASN][1000 genomes]
rs7358151	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8181307	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][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	esv3368825	chr10:27864181-28043820	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv831813	chr10:28017606-28200651	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv917149	chr10:28018919-28688694	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:28029800-28035800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr10:28029800-28036000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
3	chr10:28030000-28036600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr10:28030200-28036200	Bivalent Enhancer	Fetal Brain Male	brain
5	chr10:28030200-28036400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr10:28030800-28035600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
7	chr10:28030800-28035800	Active TSS	Aorta	Aorta
8	chr10:28031200-28035800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr10:28031400-28035600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr10:28031400-28035800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr10:28031400-28035800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr10:28031600-28035600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
13	chr10:28031600-28035600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
14	chr10:28031600-28035600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
15	chr10:28031600-28035600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
16	chr10:28031800-28035800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
17	chr10:28032800-28035600	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr10:28032800-28035800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr10:28032800-28036000	Bivalent Enhancer	Fetal Thymus	thymus
20	chr10:28033000-28035600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr10:28033000-28035600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
22	chr10:28033000-28036000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr10:28033200-28035600	Flanking Bivalent TSS/Enh	Right Ventricle	heart
24	chr10:28033200-28035800	Bivalent Enhancer	Spleen	Spleen
25	chr10:28033400-28035600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr10:28033600-28035800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
27	chr10:28033800-28035600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
28	chr10:28033800-28035800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr10:28033800-28035800	Bivalent Enhancer	Stomach Mucosa	stomach
30	chr10:28033800-28036000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
31	chr10:28033800-28036000	Enhancers	Gastric	stomach
32	chr10:28034000-28035600	Bivalent Enhancer	Lung	lung
33	chr10:28034000-28035600	Bivalent/Poised TSS	NHDF-Ad	bronchial
34	chr10:28034000-28035800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr10:28034000-28036000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr10:28034200-28035600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
37	chr10:28034200-28035600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
38	chr10:28034200-28035600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
39	chr10:28034200-28036200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr10:28034400-28035600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
41	chr10:28034400-28035800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
42	chr10:28034600-28035600	Bivalent/Poised TSS	Osteobl	bone
43	chr10:28034600-28036200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
44	chr10:28034800-28035600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr10:28034800-28035600	Enhancers	Pancreas	Pancrea
46	chr10:28034800-28035800	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
47	chr10:28034800-28036000	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
48	chr10:28035000-28035600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr10:28035000-28035600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
50	chr10:28035000-28035600	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--

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