Variant report

Variant	rs1222131
Chromosome Location	chr1:223935793-223935794
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	FOSL2	chr1:223935698-223936405	A549	lung:	n/a	n/a
2	POLR2A	chr1:223934367-223937187	U87	brain:	n/a	n/a
3	TCF12	chr1:223935446-223937415	A549	lung:	n/a	chr1:223935761-223935771
4	RCOR1	chr1:223934896-223937499	IMR90	lung:	n/a	n/a
5	FOSL2	chr1:223935749-223936315	A549	lung:	n/a	n/a
6	MAX	chr1:223935695-223937237	A549	lung:	n/a	chr1:223935767-223935777 chr1:223935751-223935761
7	POLR2A	chr1:223935571-223936236	K562	blood:	n/a	n/a
8	MAZ	chr1:223934794-223937231	IMR90	lung:	n/a	chr1:223935767-223935777 chr1:223935751-223935761
9	EP300	chr1:223935658-223936411	A549	lung:	n/a	chr1:223935752-223935768
10	CEBPB	chr1:223935519-223936069	IMR90	lung:	n/a	n/a
11	SP1	chr1:223935624-223936457	A549	lung:	n/a	n/a
12	POLR2A	chr1:223934506-223937545	K562	blood:	n/a	n/a
13	POLR2A	chr1:223935515-223935925	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr1:223935791-223936423	PANC-1	pancreas:	n/a	n/a
15	POLR2A	chr1:223935639-223937214	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr1:223935361-223936798	K562	blood:	n/a	n/a
17	POLR2A	chr1:223935713-223935978	U87	brain:	n/a	n/a
18	POLR2A	chr1:223935461-223936042	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr1:223935600-223936027	A549	lung:	n/a	n/a
20	MXI1	chr1:223935038-223937318	IMR90	lung:	n/a	n/a
21	POLR2A	chr1:223935727-223935812	A549	lung:	n/a	n/a
22	MAX	chr1:223935584-223937348	A549	lung:	n/a	chr1:223935767-223935777 chr1:223935751-223935761
23	NFIC	chr1:223935567-223936256	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr1:223934529-223937422	A549	lung:	n/a	n/a
25	NR3C1	chr1:223935706-223936394	A549	lung:	n/a	chr1:223936201-223936210
26	POLR2A	chr1:223934361-223937268	U87	brain:	n/a	n/a
27	POLR2A	chr1:223935745-223935978	U87	brain:	n/a	n/a
28	CEBPB	chr1:223935623-223936433	A549	lung:	n/a	n/a
29	CEBPB	chr1:223935689-223935997	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:223935650..223937154-chr1:223966505..223968008,2	MCF-7	breast:
2	chr1:223884441..223887114-chr1:223935723..223937532,2	MCF-7	breast:
3	chr1:223887852..223890245-chr1:223935483..223937346,2	MCF-7	breast:
4	chr1:223897059..223902247-chr1:223935403..223939761,6	K562	blood:
5	chr1:223886106..223889532-chr1:223933715..223936535,3	K562	blood:
6	chr1:223898965..223904523-chr1:223935616..223939096,7	MCF-7	breast:
7	chr1:223899274..223906539-chr1:223934896..223938666,15	MCF-7	breast:

Variant related genes	Relation type
CAPN2	TF binding region
ENSG00000162909	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10158199	1.00[EUR][1000 genomes]
rs10158508	1.00[EUR][1000 genomes]
rs10158843	1.00[EUR][1000 genomes]
rs10159010	1.00[EUR][1000 genomes]
rs1153962	1.00[EUR][1000 genomes]
rs1153966	1.00[EUR][1000 genomes]
rs12025911	1.00[EUR][1000 genomes]
rs12026548	1.00[EUR][1000 genomes]
rs12027762	1.00[EUR][1000 genomes]
rs12040996	1.00[EUR][1000 genomes]
rs12047952	1.00[EUR][1000 genomes]
rs12239402	1.00[EUR][1000 genomes]
rs12239445	1.00[EUR][1000 genomes]
rs12239678	1.00[EUR][1000 genomes]
rs13375296	1.00[EUR][1000 genomes]
rs16842078	1.00[EUR][1000 genomes]
rs16842173	1.00[EUR][1000 genomes]
rs16842177	1.00[EUR][1000 genomes]
rs16842201	1.00[EUR][1000 genomes]
rs16842217	1.00[EUR][1000 genomes]
rs16842234	1.00[EUR][1000 genomes]
rs16842259	1.00[EUR][1000 genomes]
rs16842291	1.00[EUR][1000 genomes]
rs16842341	1.00[EUR][1000 genomes]
rs1890119	1.00[EUR][1000 genomes]
rs2230082	1.00[EUR][1000 genomes]
rs28370064	1.00[EUR][1000 genomes]
rs28370079	1.00[EUR][1000 genomes]
rs28370099	1.00[EUR][1000 genomes]
rs28370160	1.00[EUR][1000 genomes]
rs28370161	1.00[EUR][1000 genomes]
rs28370162	1.00[EUR][1000 genomes]
rs28458390	1.00[EUR][1000 genomes]
rs28684725	1.00[EUR][1000 genomes]
rs41345146	1.00[EUR][1000 genomes]
rs56947789	1.00[EUR][1000 genomes]
rs57380389	1.00[EUR][1000 genomes]
rs58753599	1.00[EUR][1000 genomes]
rs59433589	1.00[EUR][1000 genomes]
rs59793743	1.00[EUR][1000 genomes]
rs59948383	1.00[EUR][1000 genomes]
rs59970447	1.00[EUR][1000 genomes]
rs73114413	1.00[EUR][1000 genomes]
rs73125398	1.00[EUR][1000 genomes]
rs73127405	1.00[EUR][1000 genomes]
rs73127411	1.00[EUR][1000 genomes]
rs73127438	1.00[EUR][1000 genomes]
rs73127450	1.00[EUR][1000 genomes]
rs747811	1.00[EUR][1000 genomes]
rs7515215	1.00[EUR][1000 genomes]
rs9286986	1.00[EUR][1000 genomes]
rs9970756	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832681	chr1:223698048-224002691	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1007380	chr1:223834380-224042190	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv535310	chr1:223834380-224042190	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv1008800	chr1:223904653-224061032	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv520609	chr1:223931411-223947081	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
8	nsv521758	chr1:223931411-223954080	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
9	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
10	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223915400-223936200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr1:223919200-223936200	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr1:223921200-223936000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:223921600-223936600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:223921800-223936000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:223928000-223936400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr1:223928400-223936200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:223930400-223935800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:223930400-223935800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:223930400-223936000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr1:223930600-223935800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:223930600-223936200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:223931200-223954800	Strong transcription	HMEC	breast
14	chr1:223931400-223935800	Strong transcription	Rectal Smooth Muscle	rectum
15	chr1:223931400-223954400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:223931800-223935800	Strong transcription	Aorta	Aorta
17	chr1:223932000-223936000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:223932200-223935800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr1:223932200-223936400	Genic enhancers	NHLF	lung
20	chr1:223932400-223935800	Weak transcription	Brain Substantia Nigra	brain
21	chr1:223932600-223936400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:223932800-223936000	Genic enhancers	NH-A	brain
23	chr1:223932800-223936200	Weak transcription	Primary B cells from cord blood	blood
24	chr1:223933000-223936000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:223933000-223937000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:223933200-223936000	Genic enhancers	Fetal Muscle Trunk	muscle
27	chr1:223933400-223935800	Genic enhancers	A549	lung
28	chr1:223933400-223935800	Strong transcription	K562	blood
29	chr1:223933400-223936400	Weak transcription	Thymus	Thymus
30	chr1:223934000-223936000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr1:223934200-223935800	Weak transcription	Liver	Liver
32	chr1:223934400-223936400	Genic enhancers	Lung	lung
33	chr1:223934600-223936600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:223934600-223937000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:223934600-223937000	Genic enhancers	NHDF-Ad	bronchial
36	chr1:223934800-223935800	Genic enhancers	Placenta	Placenta
37	chr1:223934800-223935800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
38	chr1:223934800-223936400	Genic enhancers	Fetal Muscle Leg	muscle
39	chr1:223934800-223936400	Genic enhancers	Fetal Stomach	stomach
40	chr1:223934800-223936600	Genic enhancers	NHEK	skin
41	chr1:223934800-223937000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:223934800-223937000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:223934800-223937400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:223935000-223935800	Genic enhancers	Spleen	Spleen
45	chr1:223935000-223936000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr1:223935000-223936400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr1:223935000-223937000	Genic enhancers	Placenta Amnion	Placenta Amnion
48	chr1:223935200-223935800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:223935200-223935800	Genic enhancers	HSMMtube	muscle
50	chr1:223935200-223936000	Genic enhancers	Brain Cingulate Gyrus	brain

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