Variant report

Variant	rs17581597
Chromosome Location	chr1:149860372-149860373
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	CHD2	chr1:149856101-149860730	H1-hESC	embryonic stem cell:	n/a	n/a
2	TBP	chr1:149858000-149860418	GM12878	blood:	n/a	n/a
3	RAD21	chr1:149859832-149860432	ECC-1	luminal epithelium:	n/a	chr1:149860139-149860158
4	RELA	chr1:149856294-149860592	GM19099	blood:	n/a	chr1:149859835-149859844 chr1:149859835-149859844
5	STAT3	chr1:149858975-149860811	MCF10A-Er-Src	breast:	n/a	chr1:149860066-149860078 chr1:149859828-149859839 chr1:149860060-149860072 chr1:149860656-149860667
6	POLR2A	chr1:149856128-149860598	GM12891	blood:	n/a	n/a
7	POLR2A	chr1:149856712-149860542	HUVEC	blood vessel:	n/a	n/a
8	CHD1	chr1:149854894-149860797	IMR90	lung:	n/a	n/a
9	RUNX3	chr1:149857929-149860516	GM12878	blood:	n/a	n/a
10	POLR2A	chr1:149856828-149860575	HUVEC	blood vessel:	n/a	n/a
11	BHLHE40	chr1:149858968-149860887	K562	blood:	n/a	n/a
12	CEBPB	chr1:149856792-149860606	GM12878	blood:	n/a	chr1:149859577-149859585 chr1:149859133-149859144
13	PML	chr1:149857946-149860818	MCF-7	breast:	n/a	n/a
14	CEBPB	chr1:149858795-149860739	HCT-116	colon:	n/a	chr1:149859577-149859585 chr1:149859133-149859144
15	EP300	chr1:149856777-149860401	A549	lung:	n/a	chr1:149858222-149858236 chr1:149859531-149859539
16	TAF1	chr1:149858847-149860694	MCF-7	breast:	n/a	n/a
17	POU2F2	chr1:149856888-149860390	GM12891	blood:	n/a	chr1:149858267-149858282 chr1:149859714-149859724 chr1:149858267-149858281 chr1:149858270-149858279 chr1:149858269-149858279 chr1:149860062-149860074 chr1:149858268-149858281 chr1:149859713-149859725 chr1:149859716-149859723 chr1:149858270-149858280 chr1:149858271-149858278 chr1:149858268-149858279 chr1:149859713-149859727 chr1:149858268-149858279 chr1:149858270-149858280 chr1:149859715-149859724 chr1:149858269-149858281 chr1:149859714-149859724 chr1:149858265-149858283 chr1:149858270-149858278 chr1:149859712-149859727
18	POLR2A	chr1:149856181-149860420	K562	blood:	n/a	n/a
19	SMC3	chr1:149858921-149860385	GM12878	blood:	n/a	chr1:149860140-149860154 chr1:149860144-149860154
20	POLR2A	chr1:149856701-149860640	HepG2	liver:	n/a	n/a
21	GTF2F1	chr1:149857992-149860680	K562	blood:	n/a	n/a
22	POLR2A	chr1:149857176-149860564	HepG2	liver:	n/a	n/a
23	CHD2	chr1:149855227-149860558	K562	blood:	n/a	n/a
24	JUND	chr1:149859807-149860395	A549	lung:	n/a	n/a
25	STAT5A	chr1:149856717-149860656	GM12878	blood:	n/a	chr1:149860066-149860078 chr1:149860060-149860072 chr1:149858125-149858149
26	NR2F2	chr1:149856329-149860577	K562	blood:	n/a	n/a
27	POLR2A	chr1:149856079-149860918	SK-N-MC	brain:	n/a	n/a
28	POLR2A	chr1:149856330-149860505	GM12878	blood:	n/a	n/a
29	SP1	chr1:149857948-149860540	K562	blood:	n/a	chr1:149860063-149860075 chr1:149858292-149858313 chr1:149860064-149860074 chr1:149860064-149860074 chr1:149860065-149860074 chr1:149859605-149859626 chr1:149860064-149860073 chr1:149860064-149860078 chr1:149858419-149858429 chr1:149860063-149860075
30	RAD21	chr1:149858826-149860607	HCT-116	colon:	n/a	chr1:149860139-149860158
31	FOXM1	chr1:149856956-149860479	GM12878	blood:	n/a	n/a
32	POLR2A	chr1:149855989-149860589	U87	brain:	n/a	n/a
33	GATA3	chr1:149858014-149860640	A549	lung:	n/a	chr1:149859655-149859665
34	MAX	chr1:149859862-149860405	ECC-1	luminal epithelium:	n/a	n/a
35	IRF1	chr1:149857961-149860404	K562	blood:	n/a	chr1:149859606-149859615 chr1:149858368-149858377 chr1:149859577-149859586 chr1:149860061-149860075 chr1:149859949-149859963
36	MAX	chr1:149856226-149860583	GM12878	blood:	n/a	n/a
37	YY1	chr1:149859704-149860401	H1-hESC	embryonic stem cell:	n/a	n/a
38	JUND	chr1:149858047-149860700	H1-hESC	embryonic stem cell:	n/a	chr1:149859656-149859665 chr1:149859575-149859584
39	POLR2A	chr1:149856803-149860409	HepG2	liver:	n/a	n/a
40	YY1	chr1:149859779-149860592	SK-N-SH_RA	brain:	n/a	n/a
41	ARID3A	chr1:149859213-149860410	HepG2	liver:	n/a	n/a
42	ZNF143	chr1:149858079-149860772	K562	blood:	n/a	n/a
43	POLR2A	chr1:149856761-149860475	GM12878	blood:	n/a	n/a
44	POLR2A	chr1:149856041-149860836	GM12878	blood:	n/a	n/a
45	YY1	chr1:149859683-149860464	K562	blood:	n/a	n/a
46	REST	chr1:149858824-149860478	H1-neurons	neurons:	n/a	chr1:149860064-149860077
47	MYC	chr1:149858992-149860382	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr1:149855265-149860844	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr1:149856314-149860888	PANC-1	pancreas:	n/a	n/a
50	BCL3	chr1:149857831-149860524	A549	lung:	n/a	chr1:149859834-149859843

No.	Distal block	Cell Line	Cell type
1	chr1:149860128..149860898-chr8:80942054..80942725,2	Hela-S3	cervix:
2	chr1:149813928..149823076-chr1:149854513..149862208,33	K562	blood:
3	chr1:149860207..149861777-chr15:96873366..96875625,2	MCF-7	breast:
4	chr1:144532823..144535244-chr1:149858258..149860447,2	K562	blood:
5	chr1:149859746..149861842-chr1:150028326..150031345,3	K562	blood:
6	chr1:149855859..149860778-chr1:150121854..150124549,4	MCF-7	breast:
7	chr1:149858327..149860400-chr2:27649970..27651687,2	MCF-7	breast:
8	chr1:149859746..149862142-chr1:150028326..150031401,5	K562	blood:
9	chr1:149813687..149823244-chr1:149851297..149861525,76	MCF-7	breast:
10	chr1:149854948..149862391-chr1:150036900..150043965,32	MCF-7	breast:
11	chr1:149859672..149860567-chr6:88411237..88412204,2	Hela-S3	cervix:
12	chr1:149857091..149860702-chr6:26123340..26126187,3	MCF-7	breast:
13	chr1:149859057..149860974-chr12:120729495..120731395,2	MCF-7	breast:
14	chr1:149856777..149860438-chr1:150121197..150124713,4	K562	blood:
15	chr1:149859266..149861365-chr6:108879907..108882902,2	MCF-7	breast:
16	chr1:149857288..149861878-chr1:149980292..149985449,12	MCF-7	breast:
17	chr1:149859430..149861518-chr1:150206960..150208858,2	MCF-7	breast:
18	chr1:149856713..149861632-chr6:27112540..27116460,6	MCF-7	breast:
19	chr1:149855502..149862139-chr17:57919672..57925878,9	MCF-7	breast:
20	chr1:149853005..149861438-chr1:149978765..149991065,34	MCF-7	breast:
21	chr1:149859952..149861607-chr6:30710372..30712011,2	MCF-7	breast:
22	chr1:149859214..149861702-chr1:150947048..150949834,2	MCF-7	breast:
23	chr1:149855827..149861924-chr1:150032527..150042362,32	MCF-7	breast:
24	chr1:149859511..149861725-chr1:149968730..149970497,2	K562	blood:
25	chr1:149857987..149860376-chr7:139875930..139877640,2	MCF-7	breast:
26	chr1:149859576..149860436-chr5:34914964..34915715,3	Hela-S3	cervix:
27	chr1:149854540..149863300-chr1:149979575..149985253,19	K562	blood:
28	chr1:149857630..149860426-chr20:49410770..49412593,2	MCF-7	breast:
29	chr1:149859131..149861626-chr16:2021942..2023728,2	MCF-7	breast:
30	chr1:149857391..149860887-chr1:150063612..150068744,5	MCF-7	breast:
31	chr1:149857730..149860576-chr2:73051525..73053981,2	MCF-7	breast:
32	chr1:149855536..149863300-chr1:149977462..149985642,29	K562	blood:
33	chr1:149857981..149860654-chr15:91445837..91447631,2	MCF-7	breast:
34	chr1:149780176..149786781-chr1:149856138..149862217,21	MCF-7	breast:
35	chr1:149860175..149862937-chr1:149996186..149999039,2	K562	blood:
36	chr1:149813697..149823354-chr1:149851773..149862006,115	MCF-7	breast:
37	chr1:149222054..149225122-chr1:149860268..149862340,3	MCF-7	breast:
38	chr1:149857978..149860786-chr17:7253345..7257051,4	MCF-7	breast:
39	chr1:149859389..149861025-chr17:57861224..57863540,2	MCF-7	breast:
40	chr1:149860113..149860663-chr1:149913758..149914584,2	MCF-7	breast:
41	chr1:149857683..149860658-chr7:104652690..104655511,3	MCF-7	breast:
42	chr1:149858067..149860609-chr17:57783152..57786138,2	MCF-7	breast:
43	chr1:149859031..149860832-chr14:35871094..35873021,2	MCF-7	breast:
44	chr1:149859050..149860817-chr8:126019264..126021671,2	MCF-7	breast:
45	chr1:149858339..149860614-chr16:75599065..75602027,3	MCF-7	breast:
46	chr1:144533744..144537008-chr1:149856854..149861459,6	K562	blood:
47	chr1:149859068..149860891-chr8:145722311..145725112,2	MCF-7	breast:
48	chr1:149856073..149860566-chr1:150334860..150339370,4	K562	blood:
49	chr1:149858596..149860506-chr12:58159448..58161773,2	MCF-7	breast:
50	chr1:149858178..149860834-chr11:72492435..72494718,2	MCF-7	breast:

Variant related genes	Relation type
HIST2H2BE	TF binding region
HIST2H2AB	TF binding region
ENSG00000239569	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000197409	Chromatin interaction
ENSG00000220323	Chromatin interaction
ENSG00000267637	Chromatin interaction
ENSG00000201699	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000203819	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000180596	Chromatin interaction
ENSG00000214530	Chromatin interaction
ENSG00000222222	Chromatin interaction
ENSG00000034713	Chromatin interaction
ENSG00000265064	Chromatin interaction
ENSG00000143368	Chromatin interaction
ENSG00000118689	Chromatin interaction
ENSG00000113456	Chromatin interaction
ENSG00000203812	Chromatin interaction
ENSG00000203814	Chromatin interaction
ENSG00000183558	Chromatin interaction
ENSG00000023902	Chromatin interaction
ENSG00000167106	Chromatin interaction
ENSG00000143418	Chromatin interaction
ENSG00000223945	Chromatin interaction
ENSG00000006459	Chromatin interaction
ENSG00000196547	Chromatin interaction
ENSG00000135334	Chromatin interaction
ENSG00000095951	Chromatin interaction
ENSG00000115216	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000118402	Chromatin interaction
ENSG00000104549	Chromatin interaction
ENSG00000113460	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000255182	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000272273	Chromatin interaction
ENSG00000228393	Chromatin interaction
ENSG00000206737	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000261716	Chromatin interaction
ENSG00000206573	Chromatin interaction
ENSG00000163113	Chromatin interaction
ENSG00000201524	Chromatin interaction
ENSG00000185551	Chromatin interaction
ENSG00000136631	Chromatin interaction
ENSG00000183751	Chromatin interaction
ENSG00000160972	Chromatin interaction
ENSG00000124243	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000147586	Chromatin interaction
ENSG00000141378	Chromatin interaction
ENSG00000229896	Chromatin interaction
ENSG00000163125	Chromatin interaction
ENSG00000168137	Chromatin interaction
ENSG00000204256	Chromatin interaction
ENSG00000183598	Chromatin interaction
ENSG00000260231	Chromatin interaction
ENSG00000213859	Chromatin interaction
ENSG00000072818	Chromatin interaction
ENSG00000242663	Chromatin interaction
ENSG00000180573	Chromatin interaction
ENSG00000005483	Chromatin interaction
ENSG00000100906	Chromatin interaction
ENSG00000181873	Chromatin interaction
ENSG00000196866	Chromatin interaction
ENSG00000144036	Chromatin interaction
ENSG00000111012	Chromatin interaction
ENSG00000272993	Chromatin interaction
ENSG00000268050	Chromatin interaction
ENSG00000197846	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10494260	0.81[MEX][hapmap]
rs3767627	0.81[MEX][hapmap]
rs4926386	1.00[MEX][hapmap]
rs4926400	0.81[MEX][hapmap]
rs7551741	0.80[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	nsv432820	chr1:148921404-149920927	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	784 gene(s)	inside rSNPs	diseases
2	nsv831525	chr1:149701537-149878033	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
3	nsv831537	chr1:149833357-150064655	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	431 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:149855600-149860400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:149855600-149860600	Active TSS	Ovary	ovary
3	chr1:149855800-149860800	Active TSS	Right Ventricle	heart
4	chr1:149856000-149860400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:149856000-149860800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:149856000-149861000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:149856200-149860600	Active TSS	Lung	lung
8	chr1:149856200-149860800	Active TSS	H9 Cell Line	embryonic stem cell
9	chr1:149856200-149860800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:149856200-149860800	Active TSS	Left Ventricle	heart
11	chr1:149856400-149860400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:149856400-149860400	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr1:149856400-149860400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:149856400-149860400	Active TSS	GM12878-XiMat	blood
15	chr1:149856400-149860600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:149856400-149860600	Active TSS	Fetal Brain Female	brain
17	chr1:149856400-149860800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr1:149856400-149860800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:149856400-149860800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:149856400-149860800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:149856600-149860400	Active TSS	Fetal Heart	heart
22	chr1:149856600-149860400	Active TSS	Fetal Intestine Large	intestine
23	chr1:149856600-149860400	Active TSS	HSMMtube	muscle
24	chr1:149856600-149860600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:149856600-149860800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:149856600-149860800	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr1:149856600-149860800	Active TSS	Colonic Mucosa	Colon
28	chr1:149856600-149860800	Active TSS	Colon Smooth Muscle	Colon
29	chr1:149856600-149861000	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr1:149856600-149861000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:149856600-149861000	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr1:149856600-149861000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:149856800-149860400	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr1:149856800-149860400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:149856800-149860400	Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr1:149856800-149860400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:149856800-149860400	Active TSS	Placenta Amnion	Placenta Amnion
38	chr1:149856800-149860600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:149856800-149860600	Active TSS	Brain Angular Gyrus	brain
40	chr1:149856800-149860600	Active TSS	Esophagus	oesophagus
41	chr1:149856800-149860600	Active TSS	Pancreas	Pancrea
42	chr1:149856800-149860800	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr1:149856800-149860800	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr1:149856800-149860800	Active TSS	Fetal Lung	lung
45	chr1:149856800-149861000	Active TSS	A549	lung
46	chr1:149857000-149860400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:149857000-149860400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:149857000-149860400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:149857000-149860400	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr1:149857000-149860400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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