Variant report

Variant	rs375967861
Chromosome Location	chr1:59249548-59249549
allele	A/G
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	CREB1	chr1:59248601-59251387	HepG2	liver:	n/a	chr1:59249776-59249789
2	ETS1	chr1:59249425-59250477	A549	lung:	n/a	chr1:59249668-59249681 chr1:59250315-59250324 chr1:59250314-59250327 chr1:59249820-59249831 chr1:59250313-59250324 chr1:59250315-59250324 chr1:59250313-59250323
3	POLR2A	chr1:59244106-59251818	U87	brain:	n/a	n/a
4	BCLAF1	chr1:59249131-59249794	K562	blood:	n/a	chr1:59249171-59249180 chr1:59249404-59249417 chr1:59249195-59249208 chr1:59249467-59249475
5	POLR2A	chr1:59245147-59251676	Hela-S3	cervix:	n/a	n/a
6	EP300	chr1:59249464-59251275	GM12878	blood:	n/a	chr1:59250255-59250264 chr1:59250260-59250276 chr1:59249576-59249590 chr1:59250316-59250323 chr1:59249489-59249505
7	MAX	chr1:59247473-59251323	GM12878	blood:	n/a	chr1:59249843-59249852
8	KAT2A	chr1:59249202-59250142	Hela-S3	cervix:	n/a	n/a
9	JUND	chr1:59249431-59250284	A549	lung:	n/a	chr1:59249778-59249787 chr1:59249798-59249807 chr1:59249822-59249831
10	RFX5	chr1:59249522-59250028	K562	blood:	n/a	chr1:59249838-59249853 chr1:59249838-59249853 chr1:59249838-59249853 chr1:59249799-59249808
11	POLR2A	chr1:59247151-59251494	GM12892	blood:	n/a	n/a
12	POLR2A	chr1:59247903-59249799	H1-hESC	embryonic stem cell:	n/a	n/a
13	PML	chr1:59249416-59250191	GM12878	blood:	n/a	n/a
14	RELA	chr1:59249408-59251774	GM18951	blood:	n/a	n/a
15	NR2F2	chr1:59249459-59249843	K562	blood:	n/a	n/a
16	HDAC2	chr1:59249533-59250219	MCF-7	breast:	n/a	chr1:59249585-59249599
17	POLR2A	chr1:59247671-59250698	H1-hESC	embryonic stem cell:	n/a	n/a
18	JUN	chr1:59249066-59251132	K562	blood:	n/a	chr1:59251015-59251024 chr1:59249778-59249787 chr1:59249798-59249807 chr1:59250323-59250332 chr1:59249822-59249831 chr1:59250322-59250331 chr1:59249774-59249787
19	SP4	chr1:59249445-59250350	H1-hESC	embryonic stem cell:	n/a	chr1:59250319-59250335 chr1:59249822-59249833 chr1:59249818-59249834
20	SP1	chr1:59249480-59250059	GM12878	blood:	n/a	chr1:59249822-59249834 chr1:59249822-59249833 chr1:59249824-59249833 chr1:59249823-59249832 chr1:59249789-59249810 chr1:59249822-59249834
21	EP300	chr1:59249546-59250546	ECC-1	luminal epithelium:	n/a	chr1:59250255-59250264 chr1:59250260-59250276 chr1:59249576-59249590 chr1:59250316-59250323
22	POLR2A	chr1:59243934-59251872	U87	brain:	n/a	n/a
23	CHD1	chr1:59244118-59252745	IMR90	lung:	n/a	chr1:59250203-59250213
24	POLR2A	chr1:59247234-59250280	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr1:59249449-59251289	HCT-116	colon:	n/a	n/a
26	RCOR1	chr1:59248856-59251704	Hela-S3	cervix:	n/a	n/a
27	SRF	chr1:59249455-59250560	MCF-7	breast:	n/a	chr1:59249822-59249832
28	EP300	chr1:59249438-59250355	A549	lung:	n/a	chr1:59250255-59250264 chr1:59250260-59250276 chr1:59249576-59249590 chr1:59250316-59250323 chr1:59249489-59249505
29	HEY1	chr1:59246437-59251188	K562	blood:	n/a	chr1:59250260-59250275 chr1:59249195-59249210
30	JUND	chr1:59249459-59250079	T-47D	breast:	n/a	chr1:59249778-59249787 chr1:59249798-59249807 chr1:59249822-59249831
31	JUN	chr1:59249193-59251731	K562	blood:	n/a	chr1:59251015-59251024 chr1:59249778-59249787 chr1:59249798-59249807 chr1:59250323-59250332 chr1:59249822-59249831 chr1:59250322-59250331 chr1:59249774-59249787
32	TCF12	chr1:59249489-59250100	A549	lung:	n/a	chr1:59249498-59249508
33	SP1	chr1:59249470-59250362	GM12878	blood:	n/a	chr1:59249822-59249834 chr1:59249822-59249833 chr1:59250320-59250334 chr1:59250324-59250333 chr1:59249824-59249833 chr1:59249823-59249832 chr1:59249789-59249810 chr1:59249822-59249834
34	POLR2A	chr1:59244614-59251725	HUVEC	blood vessel:	n/a	n/a
35	EP300	chr1:59248663-59251896	SK-N-SH	brain:	n/a	chr1:59250255-59250264 chr1:59249191-59249207 chr1:59249176-59249192 chr1:59250260-59250276 chr1:59251787-59251800 chr1:59249125-59249134 chr1:59249576-59249590 chr1:59250316-59250323 chr1:59249489-59249505
36	TCF12	chr1:59248641-59251958	SK-N-SH	brain:	n/a	chr1:59249475-59249485 chr1:59251331-59251338 chr1:59249498-59249508
37	ZBTB33	chr1:59249540-59249863	A549	lung:	n/a	n/a
38	ZNF143	chr1:59249391-59250294	H1-hESC	embryonic stem cell:	n/a	chr1:59249417-59249435 chr1:59250021-59250036 chr1:59249670-59249688
39	JUND	chr1:59249499-59250288	A549	lung:	n/a	chr1:59249778-59249787 chr1:59249798-59249807 chr1:59249822-59249831
40	POLR2A	chr1:59247171-59251601	H1-hESC	embryonic stem cell:	n/a	n/a
41	KAP1	chr1:59249484-59250164	U2OS	brain:	n/a	n/a
42	REST	chr1:59249481-59250174	SK-N-SH	brain:	n/a	chr1:59249842-59249851
43	GATA3	chr1:59249234-59251270	A549	lung:	n/a	chr1:59249740-59249752
44	REST	chr1:59249266-59250361	HL-60	blood:	n/a	chr1:59249842-59249851
45	MAZ	chr1:59249382-59251156	HepG2	liver:	n/a	chr1:59249843-59249852
46	TAF1	chr1:59249439-59250227	GM12891	blood:	n/a	n/a
47	SIN3AK20	chr1:59249364-59249827	PANC-1	pancreas:	n/a	n/a
48	TAF7	chr1:59249416-59249938	H1-hESC	embryonic stem cell:	n/a	n/a
49	MXI1	chr1:59249426-59250055	K562	blood:	n/a	chr1:59249837-59249852
50	SIN3AK20	chr1:59249392-59249843	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:59249157..59249730-chr3:149530481..149530990,2	Hela-S3	cervix:
2	chr1:46215764..46216413-chr1:59249299..59250095,2	Hela-S3	cervix:
3	chr1:59249252..59250042-chr1:161015502..161016271,2	Hela-S3	cervix:
4	chr1:59245185..59249625-chr1:59318506..59322949,5	K562	blood:
5	chr1:59245650..59249709-chr1:60164316..60166597,3	MCF-7	breast:
6	chr1:52830101..52832396-chr1:59247801..59250793,2	K562	blood:
7	chr1:59249165..59249981-chr21:47705888..47706633,2	Hela-S3	cervix:
8	chr1:59245489..59255081-chr1:59277954..59283925,49	MCF-7	breast:
9	chr1:59248070..59249752-chr1:59509015..59510889,2	K562	blood:
10	chr1:59247150..59249652-chr1:59355694..59357549,2	MCF-7	breast:
11	chr1:59248192..59249746-chr1:60156030..60158345,2	MCF-7	breast:
12	chr1:59247291..59249563-chr1:59804823..59806731,2	K562	blood:
13	chr1:59245578..59252912-chr1:59759683..59766457,13	MCF-7	breast:
14	chr1:59249489..59250361-chr17:56709110..56709614,2	HCT-116	colon:
15	chr1:59242448..59251438-chr1:59358057..59375559,39	K562	blood:
16	chr1:59249394..59249958-chr19:10764967..10765511,2	Hela-S3	cervix:
17	chr1:45196303..45197166-chr1:59249336..59250143,2	Hela-S3	cervix:
18	chr1:59248023..59251652-chr1:59759822..59764138,5	MCF-7	breast:
19	chr1:59247984..59249689-chr1:59605689..59608661,2	MCF-7	breast:
20	chr1:59246838..59249667-chr1:59504276..59507925,4	K562	blood:
21	chr1:59249179..59249729-chr8:144416646..144417345,2	NB4	blood:
22	chr1:59248634..59251587-chr1:59519796..59523397,3	K562	blood:
23	chr1:59249398..59250266-chr11:62608563..62609478,2	HCT-116	colon:
24	chr1:59244053..59249750-chr1:59393075..59399809,12	K562	blood:
25	chr1:59249378..59250086-chr12:104359514..104360028,2	Hela-S3	cervix:
26	chr1:59247110..59249752-chr1:59387312..59390458,3	K562	blood:
27	chr1:59163564..59170812-chr1:59245390..59251956,13	K562	blood:
28	chr1:59249160..59250037-chr11:394214..394851,2	Hela-S3	cervix:
29	chr1:59249289..59250803-chr1:59761583..59764317,2	K562	blood:
30	chr1:59244876..59251429-chr1:59540803..59548111,10	K562	blood:
31	chr1:59249248..59249750-chr1:210546978..210547575,2	Hela-S3	cervix:
32	chr1:59249358..59250200-chr22:43011055..43011957,2	Hela-S3	cervix:
33	chr1:59243458..59255133-chr1:59272031..59283720,29	K562	blood:
34	chr1:59249430..59250092-chr19:14247103..14247743,2	HCT-116	colon:
35	chr1:59249448..59250008-chr1:154946924..154947426,2	Hela-S3	cervix:
36	chr1:59229058..59237226-chr1:59244356..59250672,11	MCF-7	breast:
37	chr1:59162606..59168890-chr1:59243728..59252069,16	K562	blood:
38	chr1:59010838..59012578-chr1:59247144..59249684,2	K562	blood:
39	chr1:59249067..59249615-chr17:49198718..49199240,2	Hela-S3	cervix:
40	chr1:59248968..59249762-chr12:7052577..7053312,2	Hela-S3	cervix:
41	chr1:59249246..59249747-chr15:31618877..31619419,2	Hela-S3	cervix:
42	chr1:59248658..59249657-chr13:73632803..73633304,2	Hela-S3	cervix:
43	chr1:28974694..28975252-chr1:59249262..59249999,2	Hela-S3	cervix:
44	chr1:59247035..59249570-chr1:59509015..59511217,2	K562	blood:
45	chr1:59248718..59249634-chr5:34929950..34930502,2	Hela-S3	cervix:
46	chr1:59154836..59157699-chr1:59248547..59250761,2	MCF-7	breast:
47	chr1:59247372..59249608-chr1:59323526..59327385,3	MCF-7	breast:
48	chr1:59246920..59249651-chr1:59428751..59431071,2	K562	blood:
49	chr1:59248724..59251140-chr1:59611823..59614628,3	MCF-7	breast:
50	chr1:59242448..59252747-chr1:59356992..59375072,48	K562	blood:

Variant related genes	Relation type
LINC01135	TF binding region
ENSG00000173207	Chromatin interaction
ENSG00000270103	Chromatin interaction
ENSG00000224609	Chromatin interaction
ENSG00000184363	Chromatin interaction
ENSG00000105011	Chromatin interaction
ENSG00000200169	Chromatin interaction
ENSG00000139372	Chromatin interaction
ENSG00000241042	Chromatin interaction
ENSG00000162600	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000237352	Chromatin interaction
ENSG00000162601	Chromatin interaction
ENSG00000169926	Chromatin interaction
ENSG00000184428	Chromatin interaction
ENSG00000197429	Chromatin interaction
ENSG00000102554	Chromatin interaction
ENSG00000235215	Chromatin interaction
ENSG00000232453	Chromatin interaction
ENSG00000154222	Chromatin interaction
ENSG00000082996	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000111678	Chromatin interaction
ENSG00000172456	Chromatin interaction
ENSG00000238923	Chromatin interaction
ENSG00000173406	Chromatin interaction
ENSG00000272226	Chromatin interaction
ENSG00000129351	Chromatin interaction
ENSG00000182362	Chromatin interaction
ENSG00000160294	Chromatin interaction
ENSG00000270022	Chromatin interaction
ENSG00000264081	Chromatin interaction
ENSG00000158773	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1798968	chr1:59246581-59251097	Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	esv1799803	chr1:59246581-59251097	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	esv12569	chr1:59247251-59250394	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	52 gene(s)	inside rSNPs	diseases
4	esv1800016	chr1:59247993-59250312	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	48 gene(s)	inside rSNPs	diseases
5	esv1801003	chr1:59247993-59250312	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	48 gene(s)	inside rSNPs	diseases
6	esv1801034	chr1:59247993-59250312	Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	48 gene(s)	inside rSNPs	diseases
7	esv1802607	chr1:59247993-59250312	Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	48 gene(s)	inside rSNPs	diseases
8	esv1802992	chr1:59247993-59251097	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
9	nsv546315	chr1:59249031-59249936	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	46 gene(s)	inside rSNPs	diseases
10	esv1800997	chr1:59249031-59250312	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	46 gene(s)	inside rSNPs	diseases
11	esv1793770	chr1:59249263-59250312	Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	46 gene(s)	inside rSNPs	diseases
12	esv1801296	chr1:59249263-59250312	Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59245200-59251400	Active TSS	Aorta	Aorta
2	chr1:59245600-59250600	Active TSS	HMEC	breast
3	chr1:59245600-59251000	Active TSS	HSMMtube	muscle
4	chr1:59245600-59251400	Active TSS	Psoas Muscle	Psoas
5	chr1:59246000-59251200	Active TSS	Liver	Liver
6	chr1:59246200-59251600	Active TSS	Fetal Kidney	kidney
7	chr1:59246400-59251400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr1:59246600-59251200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:59246600-59251200	Active TSS	A549	lung
10	chr1:59246600-59251400	Active TSS	Ovary	ovary
11	chr1:59246800-59249600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:59246800-59251000	Active TSS	HSMM	muscle
13	chr1:59246800-59251200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:59246800-59251400	Active TSS	Colon Smooth Muscle	Colon
15	chr1:59246800-59252000	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr1:59247000-59251200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:59247000-59251200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:59247000-59251200	Active TSS	Brain Angular Gyrus	brain
19	chr1:59247000-59251200	Active TSS	Brain Anterior Caudate	brain
20	chr1:59247000-59251200	Active TSS	Brain Hippocampus Middle	brain
21	chr1:59247000-59251200	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr1:59247000-59251200	Active TSS	Fetal Heart	heart
23	chr1:59247000-59251200	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr1:59247000-59251400	Active TSS	Brain Substantia Nigra	brain
25	chr1:59247200-59251000	Active TSS	Fetal Lung	lung
26	chr1:59247200-59251000	Active TSS	NH-A	brain
27	chr1:59247200-59251400	Active TSS	Small Intestine	intestine
28	chr1:59247400-59249600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:59247400-59250600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
30	chr1:59247400-59251000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
31	chr1:59247400-59251400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
32	chr1:59247800-59249600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:59247800-59251200	Active TSS	Hela-S3	cervix
34	chr1:59248000-59250800	Active TSS	Fetal Muscle Trunk	muscle
35	chr1:59248000-59251000	Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr1:59248000-59251000	Active TSS	Fetal Muscle Leg	muscle
37	chr1:59248000-59251200	Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr1:59248000-59251200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr1:59248000-59251200	Active TSS	Brain Cingulate Gyrus	brain
40	chr1:59248000-59251200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr1:59248000-59251400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:59248000-59252000	Active TSS	Primary T cells from cord blood	blood
43	chr1:59248200-59250600	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
44	chr1:59248200-59251200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr1:59248400-59251000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:59248400-59251000	Active TSS	Duodenum Mucosa	Duodenum
47	chr1:59248400-59251000	Active TSS	Placenta Amnion	Placenta Amnion
48	chr1:59248400-59251000	Active TSS	HUVEC	blood vessel
49	chr1:59248400-59251200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:59248400-59251400	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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