Variant report

Variant	rs856065
Chromosome Location	chr1:158983443-158983444
allele	A/C
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	chr1:158982898-158984553	GM12892	blood:	n/a	n/a
2	POLR2A	chr1:158982037-158984384	GM12892	blood:	n/a	n/a
3	POLR2A	chr1:158982888-158984463	GM12878	blood:	n/a	n/a
4	POLR2A	chr1:158983414-158985843	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr1:158983215-158984375	U87	brain:	n/a	n/a
6	POLR2A	chr1:158981852-158987235	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr1:158983182-158983692	GM12891	blood:	n/a	n/a
8	POLR2A	chr1:158978464-158986840	GM12892	blood:	n/a	n/a
9	WRNIP1	chr1:158983266-158983589	GM12878	blood:	n/a	n/a
10	CHD1	chr1:158981505-158983902	GM12878	blood:	n/a	n/a
11	POLR2A	chr1:158983290-158984427	GM12892	blood:	n/a	n/a
12	POLR2A	chr1:158981523-158987265	GM12878	blood:	n/a	n/a
13	POLR2A	chr1:158978384-158985943	GM19193	blood:	n/a	n/a
14	POLR2A	chr1:158983209-158984552	U87	brain:	n/a	n/a
15	POLR2A	chr1:158982200-158983713	GM12892	blood:	n/a	n/a
16	POLR2A	chr1:158983321-158983627	GM12891	blood:	n/a	n/a
17	MXI1	chr1:158982167-158983566	GM12878	blood:	n/a	n/a
18	POLR2A	chr1:158981580-158990399	GM12891	blood:	n/a	n/a
19	POLR2A	chr1:158981297-158987303	GM12878	blood:	n/a	n/a
20	POLR2A	chr1:158978350-158987224	GM18505	blood:	n/a	n/a
21	POLR2A	chr1:158978475-158987184	GM19099	blood:	n/a	n/a
22	POLR2A	chr1:158982072-158983653	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
IFI16	TF binding region

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10437336	1.00[EUR][1000 genomes]
rs10437337	1.00[EUR][1000 genomes]
rs10489847	1.00[EUR][1000 genomes]
rs1101999	1.00[EUR][1000 genomes]
rs1102000	1.00[EUR][1000 genomes]
rs1102017	1.00[EUR][1000 genomes]
rs1104171	1.00[EUR][1000 genomes]
rs11265145	1.00[EUR][1000 genomes]
rs11265147	1.00[EUR][1000 genomes]
rs11265148	1.00[EUR][1000 genomes]
rs12057331	1.00[EUR][1000 genomes]
rs12059838	1.00[EUR][1000 genomes]
rs12060241	1.00[EUR][1000 genomes]
rs12061139	1.00[EUR][1000 genomes]
rs12062789	1.00[EUR][1000 genomes]
rs12063682	1.00[EUR][1000 genomes]
rs12063973	1.00[EUR][1000 genomes]
rs12064129	1.00[EUR][1000 genomes]
rs12068030	1.00[EUR][1000 genomes]
rs12087366	1.00[EUR][1000 genomes]
rs1341409	1.00[EUR][1000 genomes]
rs1612810	1.00[EUR][1000 genomes]
rs1612844	1.00[EUR][1000 genomes]
rs1616270	1.00[EUR][1000 genomes]
rs1626284	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1629682	1.00[EUR][1000 genomes]
rs1629702	1.00[EUR][1000 genomes]
rs1631448	1.00[EUR][1000 genomes]
rs1633293	1.00[EUR][1000 genomes]
rs1633296	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1633298	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16841729	1.00[EUR][1000 genomes]
rs16841784	1.00[EUR][1000 genomes]
rs16841789	1.00[EUR][1000 genomes]
rs1772398	1.00[EUR][1000 genomes]
rs1772439	1.00[EUR][1000 genomes]
rs1772441	1.00[EUR][1000 genomes]
rs1772442	1.00[EUR][1000 genomes]
rs1772444	1.00[EUR][1000 genomes]
rs2746042	1.00[EUR][1000 genomes]
rs2746043	1.00[TSI][hapmap]
rs2746044	1.00[TSI][hapmap]
rs2814755	1.00[TSI][hapmap]
rs2852717	1.00[TSI][hapmap]
rs2852719	1.00[TSI][hapmap]
rs3026944	1.00[EUR][1000 genomes]
rs3026947	1.00[EUR][1000 genomes]
rs3026970	1.00[EUR][1000 genomes]
rs3026984	1.00[EUR][1000 genomes]
rs3027040	1.00[EUR][1000 genomes]
rs3027041	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs3027046	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs3027047	1.00[EUR][1000 genomes]
rs3027050	1.00[EUR][1000 genomes]
rs3027057	1.00[EUR][1000 genomes]
rs3027066	1.00[EUR][1000 genomes]
rs34870435	1.00[EUR][1000 genomes]
rs35122728	1.00[EUR][1000 genomes]
rs36103299	1.00[EUR][1000 genomes]
rs36160848	1.00[EUR][1000 genomes]
rs73023773	1.00[EUR][1000 genomes]
rs73023775	1.00[EUR][1000 genomes]
rs74122265	1.00[EUR][1000 genomes]
rs856059	1.00[EUR][1000 genomes]
rs856060	1.00[EUR][1000 genomes]
rs856061	1.00[EUR][1000 genomes]
rs856062	1.00[EUR][1000 genomes]
rs856063	1.00[EUR][1000 genomes]
rs856069	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs856075	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs856076	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs856078	1.00[EUR][1000 genomes]
rs856082	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs856087	1.00[EUR][1000 genomes]
rs856128	1.00[EUR][1000 genomes]
rs856130	1.00[EUR][1000 genomes]
rs856137	1.00[EUR][1000 genomes]
rs856138	1.00[EUR][1000 genomes]
rs856139	1.00[EUR][1000 genomes]
rs856144	1.00[EUR][1000 genomes]
rs856145	1.00[EUR][1000 genomes]
rs856147	1.00[EUR][1000 genomes]
rs856148	1.00[EUR][1000 genomes]
rs864439	1.00[EUR][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	esv3376764	chr1:158761947-158998617	Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv3369957	chr1:158915589-159003393	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv3176	chr1:158955373-158986568	Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	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:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158976000-159000800	Weak transcription	Gastric	stomach
2	chr1:158977200-158990400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:158978600-158984200	Active TSS	Rectal Smooth Muscle	rectum
4	chr1:158978800-158983800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:158978800-158985800	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr1:158979200-158984000	Active TSS	Stomach Smooth Muscle	stomach
7	chr1:158979400-158983600	Active TSS	Fetal Muscle Leg	muscle
8	chr1:158979400-158983600	Active TSS	Placenta	Placenta
9	chr1:158979400-158983800	Active TSS	Liver	Liver
10	chr1:158979400-158984000	Active TSS	Brain Hippocampus Middle	brain
11	chr1:158979400-158984000	Active TSS	GM12878-XiMat	blood
12	chr1:158979400-158984400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:158979400-158984400	Active TSS	Brain Anterior Caudate	brain
14	chr1:158979400-158984400	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr1:158979800-158984600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
16	chr1:158980200-159025400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr1:158981200-158985400	Weak transcription	Fetal Intestine Small	intestine
18	chr1:158981200-158985400	Weak transcription	Pancreas	Pancrea
19	chr1:158981200-158986400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr1:158981600-158983800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:158981600-158983800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:158981600-158984200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:158981600-158986000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr1:158982000-158983800	Active TSS	Duodenum Mucosa	Duodenum
25	chr1:158982000-158984000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr1:158982000-158988000	Weak transcription	Fetal Brain Male	brain
27	chr1:158982200-158983600	Active TSS	Right Ventricle	heart
28	chr1:158982200-158984200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:158982400-158983600	Active TSS	Colonic Mucosa	Colon
30	chr1:158982600-158984000	Weak transcription	Fetal Lung	lung
31	chr1:158982600-158984000	Active TSS	Left Ventricle	heart
32	chr1:158982600-158984000	Weak transcription	HSMMtube	muscle
33	chr1:158982600-158984400	Active TSS	Brain Substantia Nigra	brain
34	chr1:158982600-158984800	Strong transcription	HSMM	muscle
35	chr1:158982600-158985400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:158982600-158985400	Weak transcription	Brain Angular Gyrus	brain
37	chr1:158982600-158985400	Weak transcription	Fetal Stomach	stomach
38	chr1:158982600-158986200	Weak transcription	Colon Smooth Muscle	Colon
39	chr1:158982600-159027400	Weak transcription	Fetal Kidney	kidney
40	chr1:158982800-158983800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:158982800-158984400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr1:158982800-158984400	Weak transcription	Fetal Intestine Large	intestine
43	chr1:158982800-158984600	Weak transcription	NHLF	lung
44	chr1:158982800-158984800	Weak transcription	HMEC	breast
45	chr1:158982800-158985000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:158982800-158985200	Weak transcription	Stomach Mucosa	stomach
47	chr1:158982800-158985400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:158982800-158985400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:158982800-158985400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:158982800-158985400	Weak transcription	NH-A	brain

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