Variant report

Variant	rs34921532
Chromosome Location	chr1:155178746-155178747
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:288)
CpG islands
(count:0)
Chromatin interactive
region (count:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:288 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr1:155178226-155179609	H1-hESC	embryonic stem cell:	n/a	chr1:155179136-155179150
2	MAX	chr1:155178355-155179167	K562	blood:	n/a	chr1:155178538-155178547 chr1:155178542-155178551
3	NR2F2	chr1:155177954-155179618	K562	blood:	n/a	n/a
4	EBF1	chr1:155178520-155178757	GM12878	blood:	n/a	chr1:155178638-155178649
5	MAX	chr1:155177889-155179420	A549	lung:	n/a	chr1:155178538-155178547 chr1:155178542-155178551
6	POLR2A	chr1:155178537-155179262	Gliobla	brain:	n/a	n/a
7	TBP	chr1:155178254-155179455	HepG2	liver:	n/a	n/a
8	POLR2A	chr1:155178244-155179239	GM12891	blood:	n/a	n/a
9	POLR2A	chr1:155178300-155179159	A549	lung:	n/a	n/a
10	POLR2A	chr1:155178312-155179403	GM12878	blood:	n/a	n/a
11	RCOR1	chr1:155178242-155178833	K562	blood:	n/a	n/a
12	ETS1	chr1:155178146-155179342	K562	blood:	n/a	n/a
13	POLR2A	chr1:155178272-155179257	GM15510	blood:	n/a	n/a
14	UBTF	chr1:155178697-155178897	K562	blood:	n/a	n/a
15	POLR2A	chr1:155176526-155179440	U87	brain:	n/a	n/a
16	MAZ	chr1:155178382-155179362	HepG2	liver:	n/a	chr1:155178538-155178547 chr1:155178542-155178551
17	TAF1	chr1:155178403-155179417	ECC-1	luminal epithelium:	n/a	n/a
18	RCOR1	chr1:155178562-155179231	GM12878	blood:	n/a	n/a
19	MAX	chr1:155177993-155179292	A549	lung:	n/a	chr1:155178538-155178547 chr1:155178542-155178551
20	POLR2A	chr1:155178035-155179439	GM12892	blood:	n/a	n/a
21	MTA3	chr1:155177727-155179686	GM12878	blood:	n/a	n/a
22	UBTF	chr1:155178378-155179003	K562	blood:	n/a	n/a
23	ZBTB7A	chr1:155178241-155179198	K562	blood:	n/a	n/a
24	GABPA	chr1:155178221-155179425	SK-N-SH	brain:	n/a	chr1:155179215-155179229
25	ELF1	chr1:155178101-155179391	MCF-7	breast:	n/a	chr1:155179005-155179018
26	POLR2A	chr1:155178221-155179344	GM12878	blood:	n/a	n/a
27	BHLHE40	chr1:155178420-155179237	HepG2	liver:	n/a	n/a
28	TAF1	chr1:155178254-155179383	H1-hESC	embryonic stem cell:	n/a	n/a
29	TCF12	chr1:155178220-155179402	ECC-1	luminal epithelium:	n/a	n/a
30	POLR2A	chr1:155177490-155179411	HUVEC	blood vessel:	n/a	n/a
31	EGR1	chr1:155178318-155179138	K562	blood:	n/a	chr1:155178474-155178488
32	MXI1	chr1:155178314-155179227	K562	blood:	n/a	chr1:155178538-155178553 chr1:155178536-155178551
33	POLR2A	chr1:155176619-155179572	H1-hESC	embryonic stem cell:	n/a	n/a
34	SP1	chr1:155178121-155179325	A549	lung:	n/a	chr1:155178474-155178485
35	NFIC	chr1:155178185-155179339	GM12878	blood:	n/a	n/a
36	HDAC2	chr1:155178312-155179095	HepG2	liver:	n/a	n/a
37	CEBPD	chr1:155178394-155179198	K562	blood:	n/a	n/a
38	CHD2	chr1:155178191-155179390	K562	blood:	n/a	n/a
39	POLR2A	chr1:155178306-155179266	GM19099	blood:	n/a	n/a
40	CCNT2	chr1:155178291-155179175	K562	blood:	n/a	n/a
41	POLR2A	chr1:155176544-155180399	MCF10A-Er-Src	breast:	n/a	n/a
42	GABPA	chr1:155178716-155179235	HepG2	liver:	n/a	chr1:155179215-155179229
43	POLR2A	chr1:155175455-155179404	H1-hESC	embryonic stem cell:	n/a	n/a
44	IRF1	chr1:155178280-155179224	K562	blood:	n/a	n/a
45	NR2C2	chr1:155178254-155179422	HepG2	liver:	n/a	chr1:155178409-155178418
46	YY1	chr1:155178169-155179518	A549	lung:	n/a	chr1:155179136-155179150
47	JUND	chr1:155178160-155179314	A549	lung:	n/a	n/a
48	POLR2A	chr1:155178201-155179272	K562	blood:	n/a	n/a
49	FOXM1	chr1:155178248-155179516	GM12878	blood:	n/a	n/a
50	EP300	chr1:155178301-155178901	GM12878	blood:	n/a	n/a

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155177559..155180202-chr1:155292394..155295375,3	MCF-7	breast:
2	chr1:155177038..155178964-chr1:155225105..155226768,2	K562	blood:
3	chr1:155174605..155182734-chr1:155187211..155200915,43	MCF-7	breast:
4	chr1:155175944..155179285-chr1:155187472..155192193,6	MCF-7	breast:
5	chr1:155176699..155181010-chr1:155210436..155216018,7	K562	blood:
6	chr1:155176742..155181811-chr1:155241351..155243659,5	K562	blood:
7	chr1:155174590..155181850-chr1:155192419..155201858,28	K562	blood:
8	chr1:155177540..155179890-chr1:155292109..155295871,3	K562	blood:
9	chr1:155177501..155180439-chr1:155241902..155244852,3	MCF-7	breast:
10	chr1:155176808..155180528-chr1:155231411..155234045,4	K562	blood:
11	chr1:155177282..155178806-chr1:155231376..155233429,2	K562	blood:
12	chr1:155177882..155179907-chr1:155278093..155280074,2	MCF-7	breast:
13	chr1:155176888..155180042-chr1:155214260..155216336,5	K562	blood:
14	chr1:155176709..155179007-chr1:155224736..155227425,3	K562	blood:
15	chr1:155178662..155180610-chr1:155180712..155183459,2	K562	blood:
16	chr1:155171519..155180465-chr1:155194608..155199196,19	MCF-7	breast:
17	chr1:155106358..155107894-chr1:155178514..155180234,2	K562	blood:
18	chr1:155175313..155180738-chr1:155230329..155234021,8	MCF-7	breast:
19	chr1:155100990..155102767-chr1:155177310..155179294,2	MCF-7	breast:
20	chr1:155178151..155179039-chr1:155196306..155197423,3	Hela-S3	cervix:
21	chr1:155174858..155180302-chr1:155209102..155215747,8	MCF-7	breast:
22	chr1:155178436..155180973-chr1:155219281..155221759,2	K562	blood:
23	chr1:155175738..155179299-chr1:155291621..155295870,7	K562	blood:
24	chr1:155176876..155179171-chr1:155209871..155213021,3	K562	blood:
25	chr1:155176528..155179110-chr1:155225013..155226793,2	MCF-7	breast:
26	chr1:155178616..155179512-chr5:170814374..170815238,2	Hela-S3	cervix:
27	chr1:155175739..155181576-chr1:155185947..155190429,10	K562	blood:
28	chr1:155056523..155059485-chr1:155177407..155180672,3	K562	blood:
29	chr1:155178269..155179039-chr5:81267508..81268301,2	Hela-S3	cervix:
30	chr1:155178085..155180527-chr1:155241638..155244454,2	K562	blood:
31	chr1:155176431..155180791-chr1:155209413..155214573,7	MCF-7	breast:

No data

Variant related genes	Relation type
MTX1	TF binding region
THBS3	TF binding region
ENSG00000169242	Chromatin interaction
ENSG00000225855	Chromatin interaction
ENSG00000143590	Chromatin interaction
ENSG00000160766	Chromatin interaction
ENSG00000160767	Chromatin interaction
ENSG00000160753	Chromatin interaction
ENSG00000236675	Chromatin interaction
ENSG00000173171	Chromatin interaction
ENSG00000152348	Chromatin interaction
ENSG00000169241	Chromatin interaction
ENSG00000176444	Chromatin interaction
ENSG00000181163	Chromatin interaction
ENSG00000177628	Chromatin interaction
ENSG00000116521	Chromatin interaction
ENSG00000160752	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12752585	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	esv1823746	chr1:154965207-155231904	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
3	nsv464084	chr1:155082298-155194980	Weak transcription Bivalent Enhancer Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	366 gene(s)	inside rSNPs	diseases
4	nsv547961	chr1:155082298-155194980	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	366 gene(s)	inside rSNPs	diseases
5	nsv831614	chr1:155094978-155275031	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	434 gene(s)	inside rSNPs	diseases
6	esv2757756	chr1:155094978-155314807	Bivalent Enhancer Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
7	esv2758971	chr1:155094978-155314807	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
8	nsv470741	chr1:155115260-155230131	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	381 gene(s)	inside rSNPs	diseases
9	nsv1010146	chr1:155119096-155201064	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
10	nsv872457	chr1:155135335-155310443	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
11	nsv831625	chr1:155145634-155313409	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
12	nsv872458	chr1:155146102-155180466	Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	316 gene(s)	inside rSNPs	diseases
13	nsv527682	chr1:155149718-155197462	Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	361 gene(s)	inside rSNPs	diseases
14	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
15	esv2764209	chr1:155175657-155201064	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
16	nsv547963	chr1:155178746-155206167	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 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	chr1:155176400-155179600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:155176600-155180000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:155176600-155180200	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr1:155176800-155179800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:155177000-155179600	Active TSS	Aorta	Aorta
6	chr1:155177000-155179800	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr1:155177400-155179000	Active TSS	Placenta Amnion	Placenta Amnion
8	chr1:155177400-155179400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:155177400-155179600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr1:155177600-155179200	Active TSS	Brain Germinal Matrix	brain
11	chr1:155177600-155179400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:155177600-155179400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:155177600-155179600	Active TSS	Esophagus	oesophagus
14	chr1:155177600-155179800	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr1:155177800-155178800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr1:155177800-155178800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:155177800-155179600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
18	chr1:155178000-155178800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:155178000-155178800	Flanking Active TSS	Fetal Thymus	thymus
20	chr1:155178000-155179400	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr1:155178000-155179400	Active TSS	Sigmoid Colon	Sigmoid Colon
22	chr1:155178000-155179600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
23	chr1:155178000-155179600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr1:155178000-155179600	Active TSS	Ovary	ovary
25	chr1:155178000-155179800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:155178200-155179200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:155178200-155179200	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr1:155178200-155179200	Active TSS	Brain Angular Gyrus	brain
29	chr1:155178200-155179200	Active TSS	Brain Cingulate Gyrus	brain
30	chr1:155178200-155179200	Active TSS	Brain Hippocampus Middle	brain
31	chr1:155178200-155179200	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr1:155178200-155179200	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr1:155178200-155179200	Active TSS	Fetal Lung	lung
34	chr1:155178200-155179200	Active TSS	Gastric	stomach
35	chr1:155178200-155179400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:155178200-155179400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:155178200-155179400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:155178200-155179400	Active TSS	Colon Smooth Muscle	Colon
39	chr1:155178200-155179400	Active TSS	Pancreas	Pancrea
40	chr1:155178200-155179400	Active TSS	Psoas Muscle	Psoas
41	chr1:155178200-155179400	Active TSS	HSMM	muscle
42	chr1:155178200-155179400	Active TSS	NHDF-Ad	bronchial
43	chr1:155178200-155179600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:155178200-155179600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr1:155178200-155179600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr1:155178200-155179600	Active TSS	Lung	lung
47	chr1:155178200-155179800	Active TSS	H9 Cell Line	embryonic stem cell
48	chr1:155178400-155178800	Active TSS	Primary B cells from cord blood	blood
49	chr1:155178400-155179000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:155178400-155179000	Active TSS	Primary neutrophils fromperipheralblood	blood

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