Variant report

Variant	rs1323287
Chromosome Location	chr1:59245987-59245988
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:134)
CpG islands
(count:0)
Chromatin interactive
region (count:76)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:134 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:59244106-59251818	U87	brain:	n/a	n/a
2	POLR2A	chr1:59245147-59251676	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr1:59245334-59246889	PFSK-1	brain:	n/a	n/a
4	NFIC	chr1:59245362-59246125	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr1:59243934-59251872	U87	brain:	n/a	n/a
6	CHD1	chr1:59244118-59252745	IMR90	lung:	n/a	chr1:59250203-59250213
7	SMC3	chr1:59245327-59246216	HepG2	liver:	n/a	n/a
8	POLR2A	chr1:59244614-59251725	HUVEC	blood vessel:	n/a	n/a
9	TCF12	chr1:59245453-59246117	ECC-1	luminal epithelium:	n/a	chr1:59245820-59245829
10	POLR2A	chr1:59244517-59246995	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr1:59245448-59246308	HepG2	liver:	n/a	n/a
12	BCL3	chr1:59245438-59246035	A549	lung:	n/a	n/a
13	POLR2A	chr1:59245043-59246082	SK-N-SH	brain:	n/a	n/a
14	CBX3	chr1:59245616-59246086	K562	blood:	n/a	n/a
15	STAT3	chr1:59245506-59246084	MCF10A-Er-Src	breast:	n/a	chr1:59245770-59245778
16	STAT3	chr1:59245463-59246019	MCF10A-Er-Src	breast:	n/a	chr1:59245770-59245778
17	FOXA1	chr1:59245655-59246020	ECC-1	luminal epithelium:	n/a	n/a
18	TBL1XR1	chr1:59245770-59246190	K562	blood:	n/a	n/a
19	POLR2A	chr1:59244523-59251294	SK-N-SH	brain:	n/a	n/a
20	NFIC	chr1:59245332-59246252	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chr1:59245241-59249887	K562	blood:	n/a	n/a
22	RCOR1	chr1:59245085-59247110	HepG2	liver:	n/a	n/a
23	CHD2	chr1:59244672-59246973	HepG2	liver:	n/a	n/a
24	NFYA	chr1:59245747-59246557	Hela-S3	cervix:	n/a	n/a
25	MTA3	chr1:59245476-59246055	GM12878	blood:	n/a	n/a
26	POLR2A	chr1:59245296-59246070	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr1:59245328-59246268	GM12892	blood:	n/a	n/a
28	POLR2A	chr1:59244682-59251438	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr1:59245389-59246950	Hela-S3	cervix:	n/a	n/a
30	ELF1	chr1:59244304-59246125	SK-N-SH	brain:	n/a	chr1:59245254-59245265 chr1:59245591-59245602
31	MAX	chr1:59245600-59251175	HepG2	liver:	n/a	chr1:59249843-59249852
32	POLR2A	chr1:59245312-59247006	GM12892	blood:	n/a	n/a
33	MAFK	chr1:59245084-59246005	H1-hESC	embryonic stem cell:	n/a	chr1:59245600-59245617
34	TCF7L2	chr1:59245460-59246715	HEK293	kidney:	n/a	chr1:59245652-59245661
35	POLR2A	chr1:59245395-59246068	HL-60	blood:	n/a	n/a
36	POLR2A	chr1:59243686-59251714	MCF10A-Er-Src	breast:	n/a	n/a
37	PBX3	chr1:59244806-59246136	SK-N-SH	brain:	n/a	n/a
38	POLR2A	chr1:59245391-59247001	GM12892	blood:	n/a	n/a
39	POLR2A	chr1:59245497-59245989	H1-hESC	embryonic stem cell:	n/a	n/a
40	ELF1	chr1:59245418-59246082	A549	lung:	n/a	chr1:59245591-59245602
41	POLR2A	chr1:59244543-59251831	HUVEC	blood vessel:	n/a	n/a
42	JUND	chr1:59244664-59246337	SK-N-SH	brain:	n/a	n/a
43	SETDB1	chr1:59245646-59246265	U2OS	brain:	n/a	n/a
44	MAFK	chr1:59245382-59245993	K562	blood:	n/a	chr1:59245600-59245617
45	POLR2A	chr1:59243934-59251878	U87	brain:	n/a	n/a
46	POLR2A	chr1:59245266-59246983	HepG2	liver:	n/a	n/a
47	FOS	chr1:59245098-59246063	HUVEC	blood vessel:	n/a	n/a
48	POLR2A	chr1:59245295-59246069	GM12891	blood:	n/a	n/a
49	POLR2A	chr1:59245102-59246149	MCF-7	breast:	n/a	n/a
50	EP300	chr1:59245273-59246205	ECC-1	luminal epithelium:	n/a	chr1:59245819-59245829

No data

(count:76 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:59244361..59246823-chr1:59649097..59651993,2	K562	blood:
2	chr1:59243758..59246156-chr1:59488785..59491349,2	MCF-7	breast:
3	chr1:59244855..59247331-chr1:59314391..59317376,3	K562	blood:
4	chr1:59179996..59185200-chr1:59243009..59246405,6	K562	blood:
5	chr1:59245914..59247946-chr1:59568208..59571099,2	K562	blood:
6	chr1:59244768..59246699-chr1:59759656..59762805,3	K562	blood:
7	chr1:59208975..59211483-chr1:59245941..59247562,2	MCF-7	breast:
8	chr1:59245185..59249625-chr1:59318506..59322949,5	K562	blood:
9	chr1:59245650..59249709-chr1:60164316..60166597,3	MCF-7	breast:
10	chr1:59245489..59255081-chr1:59277954..59283925,49	MCF-7	breast:
11	chr1:59245313..59247577-chr1:59481237..59483014,2	K562	blood:
12	chr1:59244693..59246755-chr1:60196068..60197895,2	K562	blood:
13	chr1:28973695..28976366-chr1:59244298..59247179,2	K562	blood:
14	chr1:59188596..59190671-chr1:59244516..59246451,3	K562	blood:
15	chr1:59245578..59252912-chr1:59759683..59766457,13	MCF-7	breast:
16	chr1:59244238..59248031-chr1:59689062..59692608,4	K562	blood:
17	chr1:59245157..59247090-chr1:59636264..59638828,2	K562	blood:
18	chr1:59242448..59251438-chr1:59358057..59375559,39	K562	blood:
19	chr1:59245589..59247526-chr1:59439230..59441535,3	K562	blood:
20	chr1:59245136..59249509-chr1:59544104..59550391,6	K562	blood:
21	chr1:59245974..59248964-chr1:60182800..60185774,2	MCF-7	breast:
22	chr1:59244169..59247698-chr1:60062396..60065400,3	K562	blood:
23	chr1:59244855..59247592-chr1:59314391..59317376,4	K562	blood:
24	chr1:59244079..59247030-chr1:60125320..60128311,2	K562	blood:
25	chr1:59244923..59247251-chr1:59843655..59845229,2	K562	blood:
26	chr1:59192672..59194770-chr1:59244784..59246788,2	MCF-7	breast:
27	chr1:59244331..59246444-chr1:59329180..59331508,4	K562	blood:
28	chr1:59186058..59188120-chr1:59245328..59247867,2	K562	blood:
29	chr1:59214317..59217323-chr1:59243104..59246296,3	K562	blood:
30	chr1:59245887..59249534-chr1:59455949..59458682,3	K562	blood:
31	chr1:59244053..59249750-chr1:59393075..59399809,12	K562	blood:
32	chr1:59244169..59247928-chr1:60060481..60064138,5	K562	blood:
33	chr1:59244161..59247403-chr1:59832378..59835096,3	K562	blood:
34	chr1:59181769..59184319-chr1:59244271..59246405,2	K562	blood:
35	chr1:59244501..59246539-chr1:59401938..59403701,2	K562	blood:
36	chr1:59245573..59247756-chr1:59431368..59433217,2	K562	blood:
37	chr1:59208278..59211622-chr1:59243472..59246717,6	K562	blood:
38	chr1:59245164..59246849-chr1:59463690..59466367,2	K562	blood:
39	chr1:59245718..59248161-chr1:59323277..59324885,2	MCF-7	breast:
40	chr1:59191433..59194290-chr1:59244978..59247044,2	K562	blood:
41	chr1:59163564..59170812-chr1:59245390..59251956,13	K562	blood:
42	chr1:59245604..59247254-chr1:59311635..59313742,2	K562	blood:
43	chr1:59245933..59248490-chr1:59559542..59562151,2	K562	blood:
44	chr1:59245570..59248484-chr1:61782798..61784305,2	K562	blood:
45	chr1:59244876..59251429-chr1:59540803..59548111,10	K562	blood:
46	chr1:59244785..59246783-chr1:59553913..59556142,2	K562	blood:
47	chr1:59245275..59248106-chr1:59562308..59564391,2	K562	blood:
48	chr1:59244236..59247273-chr1:59648638..59651433,3	K562	blood:
49	chr1:59082041..59083962-chr1:59243865..59246416,2	K562	blood:
50	chr1:59245909..59247878-chr1:59481525..59484880,3	K562	blood:

No data

Variant related genes	Relation type
LINC01135	TF binding region
ENSG00000235215	Chromatin interaction
ENSG00000264081	Chromatin interaction
ENSG00000162601	Chromatin interaction
ENSG00000222168	Chromatin interaction
ENSG00000232453	Chromatin interaction
ENSG00000172456	Chromatin interaction
ENSG00000231740	Chromatin interaction
ENSG00000272226	Chromatin interaction
ENSG00000270103	Chromatin interaction
ENSG00000228121	Chromatin interaction

rs_ID	r²[population]
rs11207335	1.00[MEX][hapmap]
rs11207336	1.00[MEX][hapmap]
rs12059773	1.00[MEX][hapmap]
rs12082896	1.00[MEX][hapmap]
rs12092950	1.00[MEX][hapmap]
rs2760499	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2811894	0.85[YRI][hapmap]

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59239800-59246600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:59239800-59247200	Weak transcription	Esophagus	oesophagus
3	chr1:59239800-59247400	Weak transcription	Gastric	stomach
4	chr1:59240600-59246600	Weak transcription	Left Ventricle	heart
5	chr1:59240800-59246600	Weak transcription	Pancreas	Pancrea
6	chr1:59243200-59247200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr1:59245200-59247000	Enhancers	Hela-S3	cervix
8	chr1:59245200-59251400	Active TSS	Aorta	Aorta
9	chr1:59245400-59246000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:59245400-59246000	Flanking Active TSS	NH-A	brain
11	chr1:59245400-59246200	Enhancers	Small Intestine	intestine
12	chr1:59245400-59246400	Active TSS	Osteobl	bone
13	chr1:59245400-59246600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:59245400-59246600	Enhancers	Brain Anterior Caudate	brain
15	chr1:59245400-59246600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr1:59245400-59246600	Enhancers	Stomach Mucosa	stomach
17	chr1:59245400-59247000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr1:59245400-59247600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:59245600-59246000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr1:59245600-59246000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:59245600-59246000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:59245600-59246000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:59245600-59246000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:59245600-59246000	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr1:59245600-59246000	Enhancers	Colonic Mucosa	Colon
26	chr1:59245600-59246000	Flanking Active TSS	Colon Smooth Muscle	Colon
27	chr1:59245600-59246000	Flanking Active TSS	Right Atrium	heart
28	chr1:59245600-59246000	Enhancers	A549	lung
29	chr1:59245600-59246200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr1:59245600-59246200	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr1:59245600-59246200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:59245600-59246200	Enhancers	Brain Germinal Matrix	brain
33	chr1:59245600-59246200	Active TSS	Fetal Brain Male	brain
34	chr1:59245600-59246200	Flanking Active TSS	Fetal Kidney	kidney
35	chr1:59245600-59246200	Enhancers	Fetal Stomach	stomach
36	chr1:59245600-59246400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr1:59245600-59246400	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr1:59245600-59246400	Flanking Active TSS	Fetal Intestine Large	intestine
39	chr1:59245600-59246600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:59245600-59246600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr1:59245600-59246600	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr1:59245600-59246600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:59245600-59246600	Enhancers	Brain Cingulate Gyrus	brain
44	chr1:59245600-59246600	Active TSS	Placenta Amnion	Placenta Amnion
45	chr1:59245600-59246600	Flanking Active TSS	HUVEC	blood vessel
46	chr1:59245600-59246800	Flanking Active TSS	NHEK	skin
47	chr1:59245600-59247000	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr1:59245600-59247000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
49	chr1:59245600-59247200	Flanking Active TSS	Fetal Lung	lung
50	chr1:59245600-59247400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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