Variant report

Variant	rs542068134
Chromosome Location	chr15:93425372-93425373
allele	A/C
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	JUND	chr15:93425313-93426815	A549	lung:	n/a	chr15:93426771-93426779
2	RCOR1	chr15:93425182-93426534	HepG2	liver:	n/a	n/a
3	EP300	chr15:93425048-93426248	T-47D	breast:	n/a	chr15:93425381-93425391 chr15:93425408-93425422
4	TFAP2A	chr15:93425194-93426696	Hela-S3	cervix:	n/a	chr15:93426645-93426656 chr15:93426645-93426657 chr15:93426169-93426180 chr15:93426646-93426661 chr15:93426566-93426577 chr15:93425631-93425639 chr15:93425631-93425639 chr15:93425631-93425639 chr15:93425629-93425640
5	TBL1XR1	chr15:93425264-93426224	K562	blood:	n/a	n/a
6	RELA	chr15:93425121-93426173	GM19099	blood:	n/a	n/a
7	ZC3H11A	chr15:93424871-93426167	K562	blood:	n/a	n/a
8	ESR1	chr15:93425120-93425445	T-47D	breast:	n/a	n/a
9	ELF1	chr15:93425371-93426119	HepG2	liver:	n/a	n/a
10	POLR2A	chr15:93424491-93428698	GM12891	blood:	n/a	n/a
11	SIN3A	chr15:93425260-93428319	H1-hESC	embryonic stem cell:	n/a	n/a
12	REST	chr15:93424890-93425702	A549	lung:	n/a	chr15:93425104-93425118
13	PBX3	chr15:93425165-93426209	SK-N-SH	brain:	n/a	chr15:93425396-93425405
14	JUND	chr15:93425166-93425736	HepG2	liver:	n/a	n/a
15	BHLHE40	chr15:93425100-93426159	K562	blood:	n/a	n/a
16	POLR2A	chr15:93424993-93426703	ECC-1	luminal epithelium:	n/a	n/a
17	POLR2A	chr15:93424514-93426185	U87	brain:	n/a	n/a
18	STAT5A	chr15:93425032-93425792	GM12878	blood:	n/a	chr15:93425763-93425771
19	POU2F2	chr15:93425080-93426229	GM12891	blood:	n/a	n/a
20	RAD21	chr15:93425197-93426199	Hela-S3	cervix:	n/a	chr15:93426068-93426077
21	YY1	chr15:93425250-93426416	H1-hESC	embryonic stem cell:	n/a	chr15:93426071-93426079 chr15:93425973-93425993 chr15:93425976-93425998 chr15:93426069-93426077 chr15:93425979-93425987 chr15:93426070-93426080 chr15:93425974-93425993 chr15:93426182-93426193 chr15:93426063-93426082
22	TAF1	chr15:93425297-93426243	SK-N-SH	brain:	n/a	n/a
23	ZNF384	chr15:93425259-93425743	GM12878	blood:	n/a	n/a
24	MAX	chr15:93425341-93426313	ECC-1	luminal epithelium:	n/a	n/a
25	CHD2	chr15:93425220-93426177	K562	blood:	n/a	chr15:93426003-93426013
26	YY1	chr15:93425141-93426283	GM12892	blood:	n/a	chr15:93426071-93426079 chr15:93425973-93425993 chr15:93425976-93425998 chr15:93426069-93426077 chr15:93425979-93425987 chr15:93426070-93426080 chr15:93425974-93425993 chr15:93426182-93426193 chr15:93426063-93426082
27	POLR2A	chr15:93425034-93426761	K562	blood:	n/a	n/a
28	EBF1	chr15:93425166-93426102	GM12878	blood:	n/a	n/a
29	POLR2A	chr15:93424986-93428747	GM12878	blood:	n/a	n/a
30	EP300	chr15:93425052-93426135	GM12878	blood:	n/a	chr15:93425381-93425391 chr15:93425408-93425422
31	POLR2A	chr15:93424787-93425776	U87	brain:	n/a	n/a
32	SIN3A	chr15:93425367-93426617	GM12878	blood:	n/a	n/a
33	FOXA1	chr15:93425116-93425863	HepG2	liver:	n/a	n/a
34	ZMIZ1	chr15:93424784-93426272	K562	blood:	n/a	n/a
35	TEAD4	chr15:93424718-93426192	K562	blood:	n/a	n/a
36	YY1	chr15:93425361-93426274	GM12891	blood:	n/a	chr15:93426071-93426079 chr15:93425973-93425993 chr15:93425976-93425998 chr15:93426069-93426077 chr15:93425979-93425987 chr15:93426070-93426080 chr15:93425974-93425993 chr15:93426182-93426193 chr15:93426063-93426082
37	POLR2A	chr15:93425074-93428806	H1-neurons	neurons:	n/a	n/a
38	REST	chr15:93424836-93430889	H1-neurons	neurons:	n/a	chr15:93425104-93425118
39	TAF1	chr15:93425127-93426297	A549	lung:	n/a	n/a
40	TAF1	chr15:93425053-93425860	MCF-7	breast:	n/a	n/a
41	POLR2A	chr15:93424935-93426746	GM18526	blood:	n/a	n/a
42	POLR2A	chr15:93425165-93428729	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr15:93424349-93427371	GM12878	blood:	n/a	n/a
44	MYC	chr15:93424553-93426652	K562	blood:	n/a	n/a
45	POLR2A	chr15:93424751-93425824	SK-N-MC	brain:	n/a	n/a
46	TAF1	chr15:93425132-93426239	H1-neurons	neurons:	n/a	n/a
47	TBP	chr15:93425168-93426204	Hela-S3	cervix:	n/a	n/a
48	MYC	chr15:93425218-93426664	Hela-S3	cervix:	n/a	n/a
49	NFATC1	chr15:93424857-93425790	GM12878	blood:	n/a	n/a
50	POLR2A	chr15:93424642-93426415	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:93352108..93352936-chr15:93425171..93425678,2	K562	blood:
2	chr14:24740252..24740952-chr15:93425313..93426012,2	Hela-S3	cervix:
3	chr11:18548153..18548751-chr15:93425186..93425734,2	Hela-S3	cervix:
4	chr1:186648896..186649559-chr15:93425048..93425747,2	Hela-S3	cervix:
5	chr11:62607333..62609223-chr15:93424710..93426737,2	K562	blood:
6	chr11:118991887..118992547-chr15:93425189..93426017,2	NB4	blood:
7	chr15:93333327..93367027-chr15:93419774..93462750,363	K562	blood:
8	chr15:93339450..93342002-chr15:93423524..93425580,2	MCF-7	breast:
9	chr15:93425198..93426173-chr6:74230195..74230813,2	Hela-S3	cervix:
10	chr15:93344712..93371031-chr15:93418700..93467618,365	MCF-7	breast:
11	chr15:93425116..93426959-chr6:26041379..26043913,2	MCF-7	breast:
12	chr12:57082176..57083030-chr15:93425152..93425714,2	Hela-S3	cervix:
13	chr15:93352256..93353063-chr15:93425255..93425934,3	Hela-S3	cervix:
14	chr15:93425219..93426130-chr7:99613026..99613921,3	Hela-S3	cervix:
15	chr15:93425070..93425680-chr9:33264389..33265229,2	HCT-116	colon:
16	chr15:69743883..69746535-chr15:93425105..93427133,2	MCF-7	breast:
17	chr15:93424784..93426792-chr15:93481094..93482707,2	MCF-7	breast:
18	chr15:93412399..93413366-chr15:93424771..93425883,5	MCF-7	breast:
19	chr15:93337836..93370220-chr15:93420085..93452591,332	K562	blood:
20	chr15:93345383..93371459-chr15:93416796..93454653,318	MCF-7	breast:
21	chr15:59040871..59041490-chr15:93425219..93425886,2	Hela-S3	cervix:
22	chr15:93424876..93427339-chr17:58154118..58156433,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272888	TF binding region
CHD2	TF binding region
ENSG00000068097	Chromatin interaction
ENSG00000258922	Chromatin interaction
ENSG00000107262	Chromatin interaction
ENSG00000137845	Chromatin interaction
ENSG00000137818	Chromatin interaction
ENSG00000196226	Chromatin interaction
ENSG00000073756	Chromatin interaction
ENSG00000172273	Chromatin interaction
ENSG00000074319	Chromatin interaction
ENSG00000258527	Chromatin interaction
ENSG00000086065	Chromatin interaction
ENSG00000156508	Chromatin interaction
ENSG00000173575	Chromatin interaction
ENSG00000106261	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000100949	Chromatin interaction
ENSG00000185442	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904499	chr15:92914795-93472582	Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	163 gene(s)	inside rSNPs	diseases
2	nsv948738	chr15:93070742-93728147	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
3	nsv1049490	chr15:93134405-93591660	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	151 gene(s)	inside rSNPs	diseases
4	nsv530846	chr15:93323949-94030462	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
5	nsv948881	chr15:93383740-93603608	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
6	nsv1047496	chr15:93412778-93475878	Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	87 gene(s)	inside rSNPs	diseases
7	nsv1036560	chr15:93413594-93462163	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	87 gene(s)	inside rSNPs	diseases
8	esv3420117	chr15:93423948-93428546	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
9	esv3424005	chr15:93424973-93427821	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93421800-93426000	Weak transcription	Ovary	ovary
2	chr15:93422200-93426000	Weak transcription	Gastric	stomach
3	chr15:93423400-93425400	Flanking Active TSS	Dnd41	blood
4	chr15:93423400-93425600	Flanking Active TSS	Primary T cells from cord blood	blood
5	chr15:93423600-93425400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
6	chr15:93423600-93425400	Flanking Active TSS	Fetal Thymus	thymus
7	chr15:93423600-93425600	Enhancers	Spleen	Spleen
8	chr15:93423800-93425400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:93424000-93425400	Flanking Active TSS	Duodenum Mucosa	Duodenum
10	chr15:93424000-93425400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
11	chr15:93424000-93425600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr15:93424000-93425600	Flanking Active TSS	K562	blood
13	chr15:93424200-93425400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:93424200-93425400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr15:93424200-93425400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr15:93424200-93425400	Flanking Active TSS	A549	lung
17	chr15:93424200-93425400	Flanking Active TSS	NHEK	skin
18	chr15:93424200-93425600	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr15:93424200-93425600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr15:93424200-93425600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr15:93424200-93425600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr15:93424200-93425600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr15:93424200-93426000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr15:93424400-93425400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr15:93424400-93425400	Flanking Active TSS	Brain Hippocampus Middle	brain
26	chr15:93424400-93425400	Flanking Active TSS	Fetal Brain Female	brain
27	chr15:93424400-93425400	Flanking Active TSS	Fetal Kidney	kidney
28	chr15:93424400-93425600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr15:93424400-93425600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr15:93424400-93425600	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr15:93424400-93425600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
32	chr15:93424400-93425600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr15:93424400-93425600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr15:93424400-93425600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr15:93424400-93425600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr15:93424400-93425600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr15:93424400-93425600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr15:93424400-93427000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr15:93424400-93430800	Active TSS	Aorta	Aorta
40	chr15:93424600-93425400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr15:93424600-93425400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr15:93424600-93425400	Flanking Active TSS	Brain Angular Gyrus	brain
43	chr15:93424600-93425400	Flanking Active TSS	Rectal Smooth Muscle	rectum
44	chr15:93424600-93425400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr15:93424600-93425600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr15:93424600-93425600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr15:93424600-93425600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr15:93424600-93425600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr15:93424600-93425600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr15:93424600-93425600	Flanking Active TSS	Liver	Liver

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