Variant report

Variant	rs72709553
Chromosome Location	chr1:159026857-159026858
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	POLR2A	chr1:159023373-159027389	GM18505	blood:	n/a	n/a
2	POLR2A	chr1:159026752-159027052	GM12878	blood:	n/a	n/a
3	POLR2A	chr1:159025628-159027421	GM12878	blood:	n/a	n/a
4	POLR2A	chr1:159025499-159028253	U87	brain:	n/a	n/a
5	POLR2A	chr1:159025559-159027249	GM12892	blood:	n/a	n/a
6	POLR2A	chr1:159023796-159027402	GM12878	blood:	n/a	n/a
7	POLR2A	chr1:159026780-159027056	GM12878	blood:	n/a	n/a
8	POLR2A	chr1:159026660-159027256	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr1:159024964-159027320	GM18951	blood:	n/a	n/a
10	POLR2A	chr1:159026723-159027454	U87	brain:	n/a	n/a
11	POLR2A	chr1:159026549-159026971	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr1:159026697-159027439	GM12891	blood:	n/a	n/a
13	POLR2A	chr1:159025611-159027290	GM12891	blood:	n/a	n/a
14	POLR2A	chr1:159026521-159027346	GM12891	blood:	n/a	n/a
15	POLR2A	chr1:159019870-159029996	GM12878	blood:	n/a	n/a
16	MTA3	chr1:159025619-159027431	GM12878	blood:	n/a	n/a
17	POLR2A	chr1:159026835-159026922	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr1:159020046-159029918	GM12891	blood:	n/a	n/a
19	POLR2A	chr1:159026797-159027032	GM12878	blood:	n/a	n/a
20	POLR2A	chr1:159025587-159027219	GM12892	blood:	n/a	n/a
21	POLR2A	chr1:159026796-159027109	GM12891	blood:	n/a	n/a
22	POLR2A	chr1:159025603-159026880	GM12892	blood:	n/a	n/a
23	POLR2A	chr1:159026309-159028253	U87	brain:	n/a	n/a
24	POLR2A	chr1:159025804-159027040	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000265589	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs41264141	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41264447	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55762293	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55783705	0.89[EUR][1000 genomes]
rs55940565	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56046690	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56077216	0.82[EUR][1000 genomes]
rs56208680	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56387666	0.89[EUR][1000 genomes]
rs56390355	0.86[EUR][1000 genomes]
rs61533256	0.96[EUR][1000 genomes]
rs62621173	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72704986	0.80[AMR][1000 genomes]
rs72704995	0.80[AMR][1000 genomes]
rs72709516	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72709518	0.85[AMR][1000 genomes]
rs72709521	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709522	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709523	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709525	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709526	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709528	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709530	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709532	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709533	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709535	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709548	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709549	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709557	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709568	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709569	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709570	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709573	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72709576	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709578	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709580	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709586	0.89[EUR][1000 genomes]
rs72709587	0.89[EUR][1000 genomes]
rs72709590	0.89[EUR][1000 genomes]
rs72709591	0.89[EUR][1000 genomes]
rs7540962	0.85[AFR][1000 genomes]
rs855869	0.89[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872486	chr1:158979191-159090256	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158982600-159027400	Weak transcription	Fetal Kidney	kidney
2	chr1:158984800-159027400	Weak transcription	Psoas Muscle	Psoas
3	chr1:158998800-159033800	Weak transcription	Fetal Brain Female	brain
4	chr1:159001000-159027400	Weak transcription	Right Ventricle	heart
5	chr1:159001400-159036200	Weak transcription	Small Intestine	intestine
6	chr1:159001600-159028400	Strong transcription	Fetal Thymus	thymus
7	chr1:159005600-159027200	Weak transcription	Brain Angular Gyrus	brain
8	chr1:159009200-159030400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr1:159020200-159027000	Strong transcription	Thymus	Thymus
10	chr1:159020200-159027200	Strong transcription	GM12878-XiMat	blood
11	chr1:159021200-159028400	Weak transcription	Fetal Intestine Small	intestine
12	chr1:159021400-159027000	Strong transcription	Rectal Smooth Muscle	rectum
13	chr1:159021800-159028000	Weak transcription	Gastric	stomach
14	chr1:159022400-159028800	Weak transcription	Brain Substantia Nigra	brain
15	chr1:159022600-159031600	Weak transcription	Fetal Brain Male	brain
16	chr1:159022800-159029600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
17	chr1:159022800-159037400	Genic enhancers	Primary B cells from peripheral blood	blood
18	chr1:159023000-159027000	Genic enhancers	Primary B cells from cord blood	blood
19	chr1:159023800-159027000	Genic enhancers	Spleen	Spleen
20	chr1:159024000-159027600	Genic enhancers	Primary monocytes fromperipheralblood	blood
21	chr1:159024200-159028600	Weak transcription	Brain Anterior Caudate	brain
22	chr1:159024200-159032400	Weak transcription	Brain Germinal Matrix	brain
23	chr1:159024400-159027800	Weak transcription	Aorta	Aorta
24	chr1:159024400-159028800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr1:159024400-159030800	Weak transcription	Placenta	Placenta
26	chr1:159024600-159027000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:159024800-159027200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:159024800-159027200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:159025200-159037600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr1:159025200-159038200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:159025400-159027000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:159025400-159027000	Weak transcription	NH-A	brain
33	chr1:159025400-159027400	Strong transcription	Primary T cells from cord blood	blood
34	chr1:159025400-159027600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr1:159025400-159027800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr1:159025400-159029400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:159025400-159037400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr1:159025400-159037800	Weak transcription	NHDF-Ad	bronchial
39	chr1:159025400-159038200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr1:159025600-159027000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:159025600-159027000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:159025600-159027000	Strong transcription	Fetal Stomach	stomach
43	chr1:159025600-159036400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr1:159025800-159027200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr1:159025800-159029200	Weak transcription	HSMM	muscle
46	chr1:159026000-159027000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:159026000-159027400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr1:159026000-159027600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:159026000-159027600	Weak transcription	Fetal Lung	lung
50	chr1:159026000-159027600	Weak transcription	Fetal Muscle Trunk	muscle

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