Variant report

Variant	rs16847822
Chromosome Location	chr1:227619950-227619951
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	MAX	chr1:227619237-227619959	K562	blood:	n/a	n/a
2	CHD1	chr1:227619473-227620095	IMR90	lung:	n/a	n/a
3	MXI1	chr1:227619312-227620059	IMR90	lung:	n/a	n/a
4	MAX	chr1:227619172-227620044	HCT-116	colon:	n/a	n/a
5	JUND	chr1:227619507-227619956	K562	blood:	n/a	chr1:227619719-227619731 chr1:227619720-227619730 chr1:227619721-227619729 chr1:227619720-227619730 chr1:227619720-227619730 chr1:227619719-227619730
6	ZMIZ1	chr1:227619610-227619951	K562	blood:	n/a	n/a
7	EP300	chr1:227619361-227620131	A549	lung:	n/a	n/a
8	RCOR1	chr1:227619089-227620108	IMR90	lung:	n/a	n/a
9	FOXA2	chr1:227619492-227620071	A549	lung:	n/a	n/a
10	EP300	chr1:227619377-227620104	A549	lung:	n/a	n/a
11	REST	chr1:227619503-227619982	A549	lung:	n/a	chr1:227619734-227619752
12	GATA2	chr1:227619512-227619954	HUVEC	blood vessel:	n/a	n/a
13	JUN	chr1:227619115-227620075	K562	blood:	n/a	chr1:227619719-227619731 chr1:227619720-227619730 chr1:227619721-227619729 chr1:227619720-227619730 chr1:227619720-227619730
14	RCOR1	chr1:227619343-227620201	K562	blood:	n/a	n/a
15	GABPA	chr1:227619614-227620040	A549	lung:	n/a	n/a
16	E2F4	chr1:227619718-227619980	MCF10A-Er-Src	breast:	n/a	n/a
17	TBL1XR1	chr1:227619523-227619959	K562	blood:	n/a	n/a
18	FOSL2	chr1:227619233-227620159	A549	lung:	n/a	chr1:227619718-227619729 chr1:227619719-227619731 chr1:227619720-227619730 chr1:227619721-227619729 chr1:227619720-227619730 chr1:227619720-227619730
19	POLR2A	chr1:227619364-227620094	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr1:227619219-227620088	HUVEC	blood vessel:	n/a	n/a
21	JUN	chr1:227619499-227620012	HUVEC	blood vessel:	n/a	chr1:227619719-227619731 chr1:227619720-227619730 chr1:227619721-227619729 chr1:227619720-227619730 chr1:227619720-227619730
22	FOS	chr1:227619374-227619952	HUVEC	blood vessel:	n/a	chr1:227619719-227619731 chr1:227619720-227619730 chr1:227619721-227619729 chr1:227619720-227619730 chr1:227619720-227619730 chr1:227619719-227619730
23	MAX	chr1:227619130-227620100	A549	lung:	n/a	n/a
24	FOXA2	chr1:227619441-227620157	A549	lung:	n/a	n/a
25	TEAD4	chr1:227619687-227620037	HepG2	liver:	n/a	n/a
26	ZNF143	chr1:227619679-227620006	K562	blood:	n/a	n/a
27	NR3C1	chr1:227619512-227619977	A549	lung:	n/a	chr1:227619532-227619547 chr1:227619721-227619730
28	TCF12	chr1:227619069-227620120	A549	lung:	n/a	n/a
29	GATA3	chr1:227619330-227620113	A549	lung:	n/a	n/a
30	POLR2A	chr1:227619376-227619989	HUVEC	blood vessel:	n/a	n/a
31	MAX	chr1:227619130-227620035	A549	lung:	n/a	n/a
32	TEAD4	chr1:227619272-227619999	K562	blood:	n/a	n/a
33	STAT3	chr1:227619919-227620000	MCF10A-Er-Src	breast:	n/a	n/a
34	JUND	chr1:227619538-227619952	A549	lung:	n/a	chr1:227619719-227619731 chr1:227619720-227619730 chr1:227619721-227619729 chr1:227619720-227619730 chr1:227619720-227619730 chr1:227619719-227619730
35	SP1	chr1:227619450-227620094	A549	lung:	n/a	n/a
36	GATA3	chr1:227619504-227620083	A549	lung:	n/a	n/a
37	SP1	chr1:227619440-227620128	A549	lung:	n/a	n/a
38	MAX	chr1:227619253-227620035	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:227504042..227507688-chr1:227616722..227620233,4	K562	blood:
2	chr1:227616535..227618369-chr1:227618757..227620375,2	MCF-7	breast:
3	chr1:227505302..227507077-chr1:227617949..227620450,2	MCF-7	breast:
4	chr1:227615748..227618335-chr1:227618739..227621470,2	MCF-7	breast:
5	chr1:227506036..227507932-chr1:227615818..227619997,3	MCF-7	breast:
6	chr1:227612197..227614219-chr1:227619414..227621480,2	MCF-7	breast:

Variant related genes	Relation type
BTF3P9	TF binding region
ENSG00000242757	Chromatin interaction
ENSG00000143776	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs12078593	1.00[AMR][1000 genomes]
rs12089076	1.00[AMR][1000 genomes]
rs12563564	1.00[AMR][1000 genomes]
rs12564917	1.00[AMR][1000 genomes]
rs12565618	1.00[AMR][1000 genomes]
rs12565653	1.00[AMR][1000 genomes]
rs12567084	1.00[AMR][1000 genomes]
rs16847912	1.00[AMR][1000 genomes]
rs16847929	1.00[AMR][1000 genomes]
rs16847987	1.00[AMR][1000 genomes]
rs16859962	1.00[AMR][1000 genomes]
rs16860227	1.00[AMR][1000 genomes]
rs17492447	1.00[AMR][1000 genomes]
rs2101862	1.00[AMR][1000 genomes]
rs2313220	1.00[AMR][1000 genomes]
rs35703429	1.00[AMR][1000 genomes]
rs57165550	1.00[AMR][1000 genomes]
rs58322371	1.00[AMR][1000 genomes]
rs59461077	1.00[AMR][1000 genomes]
rs60835672	1.00[AMR][1000 genomes]
rs6665512	1.00[AMR][1000 genomes]
rs6675470	1.00[AMR][1000 genomes]
rs73088936	1.00[AMR][1000 genomes]
rs73090912	1.00[AMR][1000 genomes]
rs73090935	1.00[AMR][1000 genomes]
rs73090936	1.00[AMR][1000 genomes]
rs73090937	1.00[AMR][1000 genomes]
rs73090938	1.00[AMR][1000 genomes]
rs73090942	1.00[AMR][1000 genomes]
rs73090947	1.00[AMR][1000 genomes]
rs73090948	1.00[AMR][1000 genomes]
rs73090952	1.00[AMR][1000 genomes]
rs73090959	1.00[AMR][1000 genomes]
rs73090985	1.00[AMR][1000 genomes]
rs73090986	1.00[AMR][1000 genomes]
rs73090987	1.00[AMR][1000 genomes]
rs73090994	1.00[AMR][1000 genomes]
rs73090995	1.00[AMR][1000 genomes]
rs73091000	1.00[AMR][1000 genomes]
rs73092604	1.00[AMR][1000 genomes]
rs73092607	1.00[AMR][1000 genomes]
rs73092610	1.00[AMR][1000 genomes]
rs73092646	1.00[AMR][1000 genomes]
rs73092653	1.00[AMR][1000 genomes]
rs73092661	1.00[AMR][1000 genomes]
rs73092665	1.00[AMR][1000 genomes]
rs73094528	1.00[AMR][1000 genomes]
rs73094536	1.00[AMR][1000 genomes]
rs73094538	1.00[AMR][1000 genomes]
rs73094556	1.00[AMR][1000 genomes]
rs73094558	1.00[AMR][1000 genomes]
rs73094561	1.00[AMR][1000 genomes]
rs73102372	1.00[AMR][1000 genomes]
rs73102384	1.00[AMR][1000 genomes]
rs73102391	1.00[AMR][1000 genomes]
rs73104364	1.00[AMR][1000 genomes]
rs7546845	1.00[AMR][1000 genomes]
rs7554851	1.00[AMR][1000 genomes]
rs7554870	1.00[AMR][1000 genomes]
rs9919207	1.00[AMR][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	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv1001353	chr1:227474785-227660691	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer 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	19 gene(s)	inside rSNPs	diseases
3	nsv1003278	chr1:227563126-227678464	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227615200-227621000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr1:227615400-227623400	Enhancers	Brain Cingulate Gyrus	brain
3	chr1:227615600-227621000	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr1:227616000-227622200	Enhancers	Fetal Muscle Leg	muscle
5	chr1:227616200-227620000	Enhancers	Fetal Muscle Trunk	muscle
6	chr1:227616400-227620000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr1:227616400-227621000	Enhancers	Lung	lung
8	chr1:227616600-227625200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr1:227617400-227620800	Weak transcription	Spleen	Spleen
10	chr1:227617400-227625200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr1:227617600-227621400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:227617600-227624000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:227617600-227624400	Weak transcription	Fetal Lung	lung
14	chr1:227617600-227625200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr1:227617600-227625200	Weak transcription	Fetal Intestine Small	intestine
16	chr1:227617600-227631200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:227617800-227625200	Weak transcription	Fetal Kidney	kidney
18	chr1:227617800-227625200	Weak transcription	Psoas Muscle	Psoas
19	chr1:227617800-227625200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr1:227617800-227625200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr1:227618000-227624600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:227618000-227625200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:227618200-227620600	Enhancers	HUVEC	blood vessel
24	chr1:227618600-227625200	Weak transcription	Left Ventricle	heart
25	chr1:227619000-227620400	Enhancers	NHDF-Ad	bronchial
26	chr1:227619000-227620800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:227619200-227620000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:227619200-227620000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:227619200-227620000	Enhancers	Adipose Nuclei	Adipose
30	chr1:227619200-227620000	Enhancers	Fetal Brain Male	brain
31	chr1:227619200-227620200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr1:227619200-227620200	Enhancers	Fetal Stomach	stomach
33	chr1:227619200-227620400	Enhancers	Stomach Mucosa	stomach
34	chr1:227619200-227620600	Weak transcription	Brain Substantia Nigra	brain
35	chr1:227619400-227620000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:227619400-227620000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:227619400-227620000	Enhancers	Fetal Intestine Large	intestine
38	chr1:227619400-227620000	Genic enhancers	Right Atrium	heart
39	chr1:227619400-227620000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr1:227619400-227620000	Enhancers	Small Intestine	intestine
41	chr1:227619400-227620000	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr1:227619400-227620000	Flanking Active TSS	A549	lung
43	chr1:227619400-227620000	Flanking Active TSS	K562	blood
44	chr1:227619400-227620400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:227619400-227621600	Weak transcription	Brain Angular Gyrus	brain
46	chr1:227619600-227620000	Enhancers	Pancreas	Pancrea
47	chr1:227619600-227620000	Flanking Active TSS	HepG2	liver
48	chr1:227619600-227625200	Weak transcription	Right Ventricle	heart
49	chr1:227619600-227625400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr1:227619600-227628800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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