Variant report

Variant	rs117294489
Chromosome Location	chr15:93425763-93425764
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	MAX	chr15:93425431-93426225	K562	blood:	n/a	n/a
2	EP300	chr15:93425542-93426227	ECC-1	luminal epithelium:	n/a	n/a
3	JUND	chr15:93425313-93426815	A549	lung:	n/a	chr15:93426771-93426779
4	RCOR1	chr15:93425182-93426534	HepG2	liver:	n/a	n/a
5	EP300	chr15:93425048-93426248	T-47D	breast:	n/a	chr15:93425381-93425391 chr15:93425408-93425422
6	EGR1	chr15:93425399-93426125	K562	blood:	n/a	chr15:93426006-93426020
7	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
8	TBL1XR1	chr15:93425264-93426224	K562	blood:	n/a	n/a
9	RELA	chr15:93425121-93426173	GM19099	blood:	n/a	n/a
10	ZC3H11A	chr15:93424871-93426167	K562	blood:	n/a	n/a
11	TAF1	chr15:93425424-93426243	PFSK-1	brain:	n/a	n/a
12	ELF1	chr15:93425371-93426119	HepG2	liver:	n/a	n/a
13	POLR2A	chr15:93424491-93428698	GM12891	blood:	n/a	n/a
14	SIN3A	chr15:93425260-93428319	H1-hESC	embryonic stem cell:	n/a	n/a
15	MYC	chr15:93425524-93426053	MCF10A-Er-Src	breast:	n/a	n/a
16	PBX3	chr15:93425165-93426209	SK-N-SH	brain:	n/a	chr15:93425396-93425405
17	SRF	chr15:93425436-93425871	HepG2	liver:	n/a	n/a
18	BHLHE40	chr15:93425100-93426159	K562	blood:	n/a	n/a
19	POLR2A	chr15:93424993-93426703	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr15:93424514-93426185	U87	brain:	n/a	n/a
21	STAT5A	chr15:93425032-93425792	GM12878	blood:	n/a	chr15:93425763-93425771
22	TCF12	chr15:93425713-93426224	GM12878	blood:	n/a	chr15:93426163-93426173
23	REST	chr15:93425742-93426184	H1-neurons	neurons:	n/a	n/a
24	POU2F2	chr15:93425080-93426229	GM12891	blood:	n/a	n/a
25	RAD21	chr15:93425197-93426199	Hela-S3	cervix:	n/a	chr15:93426068-93426077
26	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
27	TAF1	chr15:93425297-93426243	SK-N-SH	brain:	n/a	n/a
28	MAX	chr15:93425341-93426313	ECC-1	luminal epithelium:	n/a	n/a
29	CHD2	chr15:93425220-93426177	K562	blood:	n/a	chr15:93426003-93426013
30	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
31	POLR2A	chr15:93425034-93426761	K562	blood:	n/a	n/a
32	EBF1	chr15:93425166-93426102	GM12878	blood:	n/a	n/a
33	IRF3	chr15:93425515-93425890	GM12878	blood:	n/a	chr15:93425619-93425628
34	STAT3	chr15:93425511-93425779	MCF10A-Er-Src	breast:	n/a	chr15:93425763-93425771
35	POLR2A	chr15:93424986-93428747	GM12878	blood:	n/a	n/a
36	ELF1	chr15:93425390-93426640	GM12878	blood:	n/a	n/a
37	E2F6	chr15:93425644-93426056	K562	blood:	n/a	n/a
38	USF1	chr15:93425595-93426174	K562	blood:	n/a	n/a
39	ELF1	chr15:93425380-93425887	A549	lung:	n/a	n/a
40	EP300	chr15:93425052-93426135	GM12878	blood:	n/a	chr15:93425381-93425391 chr15:93425408-93425422
41	POLR2A	chr15:93424787-93425776	U87	brain:	n/a	n/a
42	SIN3A	chr15:93425367-93426617	GM12878	blood:	n/a	n/a
43	E2F1	chr15:93425698-93426569	Hela-S3	cervix:	n/a	chr15:93426499-93426508
44	FOXA1	chr15:93425116-93425863	HepG2	liver:	n/a	n/a
45	RAD21	chr15:93425728-93426202	HepG2	liver:	n/a	chr15:93426068-93426077
46	ZMIZ1	chr15:93424784-93426272	K562	blood:	n/a	n/a
47	TEAD4	chr15:93424718-93426192	K562	blood:	n/a	n/a
48	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
49	YY1	chr15:93425453-93426259	NT2-D1	testis:	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
50	POLR2A	chr15:93425074-93428806	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:93425560..93426485-chr17:56736090..56737008,2	Hela-S3	cervix:
2	chr15:93425618..93426327-chr5:44808930..44809610,2	Hela-S3	cervix:
3	chr14:24740252..24740952-chr15:93425313..93426012,2	Hela-S3	cervix:
4	chr15:93425715..93426614-chr15:93442901..93444013,3	MCF-7	breast:
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	chr11:61559605..61560105-chr15:93425741..93426488,2	Hela-S3	cervix:
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	chr15:93352256..93353063-chr15:93425255..93425934,3	Hela-S3	cervix:
13	chr15:93425219..93426130-chr7:99613026..99613921,3	Hela-S3	cervix:
14	chr15:69743883..69746535-chr15:93425105..93427133,2	MCF-7	breast:
15	chr1:161102076..161102885-chr15:93425741..93426245,2	Hela-S3	cervix:
16	chr15:93424784..93426792-chr15:93481094..93482707,2	MCF-7	breast:
17	chr15:93412399..93413366-chr15:93424771..93425883,5	MCF-7	breast:
18	chr15:93425672..93426403-chr2:96931759..96932498,2	Hela-S3	cervix:
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:
23	chr15:93352208..93354404-chr15:93425621..93426740,6	MCF-7	breast:
24	chr15:93425600..93426427-chr8:128747188..128747893,2	Hela-S3	cervix:
25	chr1:43282650..43283493-chr15:93425433..93425937,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000272888	TF binding region
CHD2	TF binding region
ENSG00000258527	Chromatin interaction
ENSG00000100949	Chromatin interaction
ENSG00000137818	Chromatin interaction
ENSG00000185442	Chromatin interaction
ENSG00000144021	Chromatin interaction
ENSG00000134825	Chromatin interaction
ENSG00000068097	Chromatin interaction
ENSG00000196226	Chromatin interaction
ENSG00000207601	Chromatin interaction
ENSG00000258922	Chromatin interaction
ENSG00000136997	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000106261	Chromatin interaction
ENSG00000158796	Chromatin interaction
ENSG00000156508	Chromatin interaction
ENSG00000112996	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000164010	Chromatin interaction
ENSG00000173575	Chromatin interaction
ENSG00000172273	Chromatin interaction
ENSG00000177868	Chromatin interaction
ENSG00000137845	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	chr15:93424200-93426000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr15:93424400-93427000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr15:93424400-93430800	Active TSS	Aorta	Aorta
6	chr15:93424600-93429200	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr15:93424800-93428600	Active TSS	Colonic Mucosa	Colon
8	chr15:93424800-93429400	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr15:93425000-93427200	Active TSS	Lung	lung
10	chr15:93425000-93427200	Active TSS	Pancreas	Pancrea
11	chr15:93425000-93428800	Active TSS	Thymus	Thymus
12	chr15:93425000-93429200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr15:93425000-93429200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr15:93425000-93429200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr15:93425000-93431800	Active TSS	Right Atrium	heart
16	chr15:93425200-93427200	Active TSS	Esophagus	oesophagus
17	chr15:93425200-93428200	Bivalent/Poised TSS	HepG2	liver
18	chr15:93425200-93428800	Active TSS	Psoas Muscle	Psoas
19	chr15:93425200-93428800	Active TSS	Right Ventricle	heart
20	chr15:93425200-93429000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr15:93425400-93425800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr15:93425400-93425800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr15:93425400-93426000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr15:93425400-93426000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr15:93425400-93426400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr15:93425400-93426400	Active TSS	Brain Germinal Matrix	brain
27	chr15:93425400-93426400	Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr15:93425400-93426600	Active TSS	Fetal Brain Female	brain
29	chr15:93425400-93426800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr15:93425400-93426800	Active TSS	Dnd41	blood
31	chr15:93425400-93427000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr15:93425400-93427000	Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr15:93425400-93427000	Active TSS	HSMM	muscle
34	chr15:93425400-93427800	Active TSS	Small Intestine	intestine
35	chr15:93425400-93428000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr15:93425400-93428000	Active TSS	Left Ventricle	heart
37	chr15:93425400-93428400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr15:93425400-93428400	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr15:93425400-93428800	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr15:93425400-93428800	Active TSS	H9 Cell Line	embryonic stem cell
41	chr15:93425400-93428800	Active TSS	Brain Cingulate Gyrus	brain
42	chr15:93425400-93428800	Active TSS	Brain Substantia Nigra	brain
43	chr15:93425400-93429000	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr15:93425400-93429000	Active TSS	Brain Angular Gyrus	brain
45	chr15:93425400-93429000	Active TSS	Fetal Intestine Large	intestine
46	chr15:93425400-93429000	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr15:93425400-93429000	Active TSS	Rectal Smooth Muscle	rectum
48	chr15:93425400-93429200	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr15:93425400-93429200	Active TSS	A549	lung
50	chr15:93425400-93429400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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