Variant report

Variant	rs72709557
Chromosome Location	chr1:159028204-159028205
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	chr1:159028186-159028428	U87	brain:	n/a	n/a
2	POLR2A	chr1:159025499-159028253	U87	brain:	n/a	n/a
3	POLR2A	chr1:159028153-159028336	GM12878	blood:	n/a	n/a
4	POLR2A	chr1:159028129-159028525	GM12878	blood:	n/a	n/a
5	POLR2A	chr1:159028172-159028603	U87	brain:	n/a	n/a
6	POLR2A	chr1:159019870-159029996	GM12878	blood:	n/a	n/a
7	POLR2A	chr1:159020046-159029918	GM12891	blood:	n/a	n/a
8	POLR2A	chr1:159026309-159028253	U87	brain:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AIM2-2	chr1:159028176-159029238	NONHSAT006994

Variant related genes	Relation type
ENSG00000265589	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs41264141	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41264447	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55762293	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55783705	0.89[EUR][1000 genomes]
rs55940565	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56046690	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56077216	0.82[EUR][1000 genomes]
rs56208680	0.81[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	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709516	0.93[EUR][1000 genomes]
rs72709518	0.81[AMR][1000 genomes]
rs72709521	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709522	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709523	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709525	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709526	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709528	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709530	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709532	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709533	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709535	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709548	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709549	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709553	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709567	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709568	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709569	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709570	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709573	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72709576	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709578	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709580	0.86[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]
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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158998800-159033800	Weak transcription	Fetal Brain Female	brain
2	chr1:159001400-159036200	Weak transcription	Small Intestine	intestine
3	chr1:159001600-159028400	Strong transcription	Fetal Thymus	thymus
4	chr1:159009200-159030400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr1:159021200-159028400	Weak transcription	Fetal Intestine Small	intestine
6	chr1:159022400-159028800	Weak transcription	Brain Substantia Nigra	brain
7	chr1:159022600-159031600	Weak transcription	Fetal Brain Male	brain
8	chr1:159022800-159029600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
9	chr1:159022800-159037400	Genic enhancers	Primary B cells from peripheral blood	blood
10	chr1:159024200-159028600	Weak transcription	Brain Anterior Caudate	brain
11	chr1:159024200-159032400	Weak transcription	Brain Germinal Matrix	brain
12	chr1:159024400-159028800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr1:159024400-159030800	Weak transcription	Placenta	Placenta
14	chr1:159025200-159037600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr1:159025200-159038200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:159025400-159029400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:159025400-159037400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr1:159025400-159037800	Weak transcription	NHDF-Ad	bronchial
19	chr1:159025400-159038200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr1:159025600-159036400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:159025800-159029200	Weak transcription	HSMM	muscle
22	chr1:159026000-159028800	Weak transcription	Osteobl	bone
23	chr1:159026000-159030200	Weak transcription	HUVEC	blood vessel
24	chr1:159026000-159037200	Weak transcription	Adipose Nuclei	Adipose
25	chr1:159026200-159028600	Weak transcription	Fetal Intestine Large	intestine
26	chr1:159026200-159028600	Weak transcription	HSMMtube	muscle
27	chr1:159026200-159036400	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr1:159026200-159037200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr1:159026200-159037200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr1:159026200-159037600	Weak transcription	Fetal Muscle Leg	muscle
31	chr1:159026200-159037600	Weak transcription	NHEK	skin
32	chr1:159026200-159037800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:159026200-159038000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr1:159026200-159038600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr1:159026400-159034000	Weak transcription	NHLF	lung
36	chr1:159026400-159034200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:159026400-159037000	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr1:159026400-159037200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr1:159026400-159037200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:159026400-159037200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:159026400-159037400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr1:159026400-159037600	Weak transcription	Dnd41	blood
43	chr1:159026800-159028600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:159026800-159028600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr1:159026800-159037200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:159026800-159038000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:159027000-159028600	Weak transcription	Fetal Stomach	stomach
48	chr1:159027000-159029600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:159027000-159030000	Weak transcription	Rectal Smooth Muscle	rectum
50	chr1:159027000-159031800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links