Variant report

Variant	rs556649226
Chromosome Location	chr15:93197629-93197630
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:68)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:68 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:93197480-93197630	GM12874	blood:	n/a	n/a
2	POLR2A	chr15:93197350-93197944	HUVEC	blood vessel:	n/a	n/a
3	CTCF	chr15:93197478-93197633	Medullo	brain:	n/a	n/a
4	CTCF	chr15:93197465-93197650	LNCaP	prostate:	n/a	n/a
5	CTCF	chr15:93197474-93197635	GM10248	blood:	n/a	n/a
6	SMC3	chr15:93197441-93197684	GM12878	blood:	n/a	n/a
7	POLR2A	chr15:93197429-93197726	HUVEC	blood vessel:	n/a	n/a
8	CTCF	chr15:93197500-93197650	HUVEC	blood vessel:	n/a	n/a
9	CTCF	chr15:93197459-93197665	MCF-7	breast:	n/a	n/a
10	CTCF	chr15:93197500-93197650	GM12878	blood:	n/a	n/a
11	EBF1	chr15:93197430-93197630	GM12878	blood:	n/a	n/a
12	CTCF	chr15:93197446-93197665	MCF-7	breast:	n/a	n/a
13	MXI1	chr15:93197423-93197656	GM12878	blood:	n/a	n/a
14	BHLHE40	chr15:93197434-93197672	GM12878	blood:	n/a	n/a
15	CTCF	chr15:93197480-93197630	GM12873	blood:	n/a	n/a
16	CTCF	chr15:93197369-93197752	GM12878	blood:	n/a	n/a
17	MAZ	chr15:93197450-93197751	GM12878	blood:	n/a	n/a
18	CTCF	chr15:93197560-93197710	MCF-7	breast:	n/a	n/a
19	CTCF	chr15:93197480-93197630	AG04449	skin:	n/a	n/a
20	NR3C1	chr15:93197284-93197731	A549	lung:	n/a	chr15:93197535-93197550
21	POLR2A	chr15:93197425-93197839	HUVEC	blood vessel:	n/a	n/a
22	RAD21	chr15:93197418-93197673	GM12878	blood:	n/a	n/a
23	ATF2	chr15:93197126-93197783	GM12878	blood:	n/a	n/a
24	POLR2A	chr15:93197448-93197665	GM12878	blood:	n/a	n/a
25	RAD21	chr15:93197266-93197818	MCF-7	breast:	n/a	n/a
26	CTCF	chr15:93197540-93197690	GM12878	blood:	n/a	n/a
27	FOXA1	chr15:93197343-93197724	T-47D	breast:	n/a	n/a
28	CTCF	chr15:93197480-93197630	HRE	kidney:	n/a	n/a
29	CTCF	chr15:93197500-93197650	MCF-7	breast:	n/a	n/a
30	FOXA2	chr15:93197442-93197636	HepG2	liver:	n/a	n/a
31	CTCF	chr15:93197343-93197833	MCF-7	breast:	n/a	n/a
32	POLR2A	chr15:93197233-93198042	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr15:93197033-93197836	GM12878	blood:	n/a	n/a
34	STAT1	chr15:93197276-93197727	GM12878	blood:	n/a	n/a
35	CTCF	chr15:93197446-93197670	MCF-7	breast:	n/a	n/a
36	CTCF	chr15:93197475-93197650	GM12891	blood:	n/a	n/a
37	ZNF143	chr15:93197387-93197685	GM12878	blood:	n/a	n/a
38	CTCF	chr15:93197520-93197670	GM12875	blood:	n/a	n/a
39	MYC	chr15:93197444-93197666	MCF-7	breast:	n/a	n/a
40	CTCF	chr15:93197540-93197690	RPTEC	kidney:	n/a	n/a
41	RAD21	chr15:93197444-93197664	SK-N-SH_RA	brain:	n/a	n/a
42	FOXA2	chr15:93197345-93197864	A549	lung:	n/a	n/a
43	CTCF	chr15:93197500-93197650	HCPEpiC	choroid plexus:	n/a	n/a
44	CTCF	chr15:93197480-93197630	WERI-Rb-1	eye:	n/a	n/a
45	MTA3	chr15:93197229-93197694	GM12878	blood:	n/a	n/a
46	CTCF	chr15:93197520-93197670	HEK293	kidney:	n/a	n/a
47	RUNX3	chr15:93196932-93197690	GM12878	blood:	n/a	n/a
48	FOXA1	chr15:93197354-93197655	HepG2	liver:	n/a	n/a
49	CTCF	chr15:93197580-93197730	A549	lung:	n/a	n/a
50	CTCF	chr15:93197520-93197670	Caco-2	colon:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:93145840..93149737-chr15:93196292..93199149,3	MCF-7	breast:
2	chr15:93197470..93197983-chr15:93226402..93227309,2	MCF-7	breast:
3	chr15:93197096..93198076-chr15:93225951..93227103,4	MCF-7	breast:
4	chr15:93197537..93199243-chr15:93427702..93429402,2	MCF-7	breast:
5	chr15:93196488..93198404-chr17:67442282..67443797,2	MCF-7	breast:

No data

Variant related genes	Relation type
FAM174B	TF binding region
ENSG00000271763	Chromatin interaction
ENSG00000272888	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037972	chr15:92804908-93270761	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv1040501	chr15:93177153-93286393	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	esv3374130	chr15:93197573-93200121	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93182000-93197800	Weak transcription	Small Intestine	intestine
2	chr15:93183200-93198400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr15:93193800-93199000	Enhancers	Fetal Heart	heart
4	chr15:93194200-93198200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr15:93194400-93198400	Weak transcription	Brain Anterior Caudate	brain
6	chr15:93194600-93198400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr15:93195200-93199600	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr15:93195600-93198000	Enhancers	Right Atrium	heart
9	chr15:93195800-93198400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:93196200-93198000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr15:93196200-93198200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr15:93196600-93199200	Enhancers	Fetal Brain Male	brain
13	chr15:93196800-93197800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr15:93196800-93197800	Enhancers	Left Ventricle	heart
15	chr15:93196800-93197800	Enhancers	Lung	lung
16	chr15:93196800-93198000	Enhancers	Colon Smooth Muscle	Colon
17	chr15:93196800-93198000	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr15:93196800-93198200	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr15:93196800-93198400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr15:93197000-93197800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr15:93197000-93197800	Enhancers	Ovary	ovary
22	chr15:93197000-93197800	Flanking Active TSS	Stomach Mucosa	stomach
23	chr15:93197000-93198000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr15:93197000-93198000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr15:93197000-93198200	Enhancers	Fetal Thymus	thymus
26	chr15:93197000-93198400	Enhancers	Esophagus	oesophagus
27	chr15:93197000-93199600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr15:93197200-93197800	Enhancers	Fetal Intestine Small	intestine
29	chr15:93197200-93197800	Flanking Active TSS	Fetal Kidney	kidney
30	chr15:93197200-93197800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr15:93197200-93198000	Enhancers	H9 Cell Line	embryonic stem cell
32	chr15:93197200-93198000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr15:93197200-93198000	Enhancers	Colonic Mucosa	Colon
34	chr15:93197200-93198200	Flanking Active TSS	HUVEC	blood vessel
35	chr15:93197200-93198400	Enhancers	Brain Substantia Nigra	brain
36	chr15:93197200-93198400	Weak transcription	Placenta	Placenta
37	chr15:93197200-93198400	Weak transcription	Spleen	Spleen
38	chr15:93197200-93199000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr15:93197200-93199400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr15:93197200-93199400	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr15:93197200-93199600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr15:93197400-93197800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr15:93197400-93197800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
44	chr15:93197400-93197800	Active TSS	Duodenum Mucosa	Duodenum
45	chr15:93197400-93198000	Enhancers	Primary T cells from cord blood	blood
46	chr15:93197400-93198000	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr15:93197400-93198000	Flanking Active TSS	Rectal Smooth Muscle	rectum
48	chr15:93197400-93198000	Enhancers	HSMMtube	muscle
49	chr15:93197400-93198200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr15:93197400-93198200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell

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