Variant report

Variant	rs559901317
Chromosome Location	chr15:75109145-75109146
allele	A/G
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	ZBTB7A	chr15:75109008-75109170	K562	blood:	n/a	n/a
2	ESR1	chr15:75109031-75110123	T-47D	breast:	n/a	chr15:75109930-75109945 chr15:75109930-75109947
3	SIN3AK20	chr15:75109006-75110213	MCF-7	breast:	n/a	n/a
4	CTCFL	chr15:75109021-75109175	K562	blood:	n/a	n/a
5	ESR1	chr15:75109107-75110177	T-47D	breast:	n/a	chr15:75109930-75109945 chr15:75109930-75109947
6	CTCF	chr15:75109040-75109190	K562	blood:	n/a	chr15:75109121-75109130 chr15:75109071-75109084 chr15:75109121-75109134 chr15:75109118-75109136
7	CTCF	chr15:75109080-75109230	BJ	skin:	n/a	chr15:75109121-75109130 chr15:75109121-75109134 chr15:75109118-75109136
8	TCF12	chr15:75109105-75110205	MCF-7	breast:	n/a	chr15:75109212-75109222
9	MXI1	chr15:75109005-75110148	SK-N-SH	brain:	n/a	n/a
10	GATA3	chr15:75108978-75110143	MCF-7	breast:	n/a	chr15:75109980-75109987
11	YY1	chr15:75108969-75109258	K562	blood:	n/a	chr15:75109058-75109074 chr15:75109059-75109081 chr15:75109059-75109069
12	CTCF	chr15:75109000-75109150	AG04449	skin:	n/a	chr15:75109121-75109130 chr15:75109071-75109084 chr15:75109121-75109134 chr15:75109118-75109136
13	ESR1	chr15:75109084-75110146	T-47D	breast:	n/a	chr15:75109930-75109945 chr15:75109930-75109947
14	YY1	chr15:75108887-75109321	K562	blood:	n/a	chr15:75109058-75109074 chr15:75109059-75109081 chr15:75109059-75109069
15	CTCF	chr15:75109120-75109270	BE2_C	brain:	n/a	chr15:75109121-75109130 chr15:75109121-75109134
16	CTCFL	chr15:75109053-75109216	K562	blood:	n/a	n/a
17	CTCF	chr15:75109076-75109186	H1-hESC	embryonic stem cell:	n/a	chr15:75109121-75109130 chr15:75109121-75109134 chr15:75109118-75109136
18	CTCF	chr15:75109000-75109150	WERI-Rb-1	eye:	n/a	chr15:75109121-75109130 chr15:75109071-75109084 chr15:75109121-75109134 chr15:75109118-75109136
19	CTCF	chr15:75109100-75109250	HRPEpiC	eye:	n/a	chr15:75109121-75109130 chr15:75109121-75109134 chr15:75109118-75109136
20	CTCF	chr15:75109131-75109156	K562	blood:	n/a	n/a
21	CTCF	chr15:75109040-75109190	HepG2	liver:	n/a	chr15:75109121-75109130 chr15:75109071-75109084 chr15:75109121-75109134 chr15:75109118-75109136
22	GATA3	chr15:75109065-75109838	T-47D	breast:	n/a	n/a
23	NR2F2	chr15:75109054-75110170	MCF-7	breast:	n/a	n/a
24	CTCF	chr15:75109020-75109170	NHEK	skin:	n/a	chr15:75109121-75109130 chr15:75109071-75109084 chr15:75109121-75109134 chr15:75109118-75109136
25	CTCF	chr15:75109040-75109190	WERI-Rb-1	eye:	n/a	chr15:75109121-75109130 chr15:75109071-75109084 chr15:75109121-75109134 chr15:75109118-75109136
26	EP300	chr15:75109103-75110147	MCF-7	breast:	n/a	chr15:75109230-75109237
27	CTCF	chr15:75109060-75109210	HCFaa	heart:	n/a	chr15:75109121-75109130 chr15:75109071-75109084 chr15:75109121-75109134 chr15:75109118-75109136

No.	Distal block	Cell Line	Cell type
1	chr15:75074156..75079604-chr15:75107384..75112501,9	MCF-7	breast:
2	chr15:75107962..75109830-chr15:75247955..75249471,2	K562	blood:
3	chr15:75092200..75093072-chr15:75108800..75110484,5	MCF-7	breast:
4	chr15:75081235..75085402-chr15:75108223..75111318,4	MCF-7	breast:
5	chr15:75108017..75109912-chr15:75114230..75116710,2	MCF-7	breast:
6	chr15:75072350..75078841-chr15:75107920..75114107,12	MCF-7	breast:
7	chr15:74907471..74909461-chr15:75108949..75111187,2	MCF-7	breast:
8	chr15:75108356..75114001-chr15:75126388..75130558,9	MCF-7	breast:
9	chr15:75106165..75113668-chr15:75132311..75136608,10	MCF-7	breast:
10	chr15:75080218..75087203-chr15:75106250..75113071,13	MCF-7	breast:
11	chr15:75107985..75111072-chr15:75197111..75200997,5	MCF-7	breast:

Variant related genes	Relation type
LMAN1L	TF binding region
ENSG00000261606	TF binding region
ENSG00000140474	Chromatin interaction
ENSG00000103653	Chromatin interaction
ENSG00000178761	Chromatin interaction
ENSG00000179335	Chromatin interaction
ENSG00000140506	Chromatin interaction
ENSG00000260919	Chromatin interaction
ENSG00000264386	Chromatin interaction
ENSG00000178718	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904380	chr15:74869438-75142761	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv833055	chr15:74988344-75166288	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv520527	chr15:75108636-75122856	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv904381	chr15:75108636-75242155	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75096200-75109600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:75096800-75109200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr15:75096800-75109400	Weak transcription	HUVEC	blood vessel
4	chr15:75096800-75109800	Weak transcription	NH-A	brain
5	chr15:75097000-75109200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr15:75097000-75109400	Weak transcription	Brain Anterior Caudate	brain
7	chr15:75097200-75109400	Weak transcription	Lung	lung
8	chr15:75097600-75111000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr15:75097800-75109200	Weak transcription	Brain Germinal Matrix	brain
10	chr15:75101800-75109200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr15:75101800-75113200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr15:75102600-75109600	Weak transcription	NHLF	lung
13	chr15:75107000-75112200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr15:75107200-75109600	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr15:75107200-75110000	Enhancers	Colon Smooth Muscle	Colon
16	chr15:75107200-75111200	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr15:75107200-75111400	Enhancers	Esophagus	oesophagus
18	chr15:75107200-75111800	Enhancers	Colonic Mucosa	Colon
19	chr15:75107200-75112400	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr15:75107200-75114400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr15:75107600-75109200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr15:75107800-75109800	Weak transcription	A549	lung
23	chr15:75108000-75109200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr15:75108000-75109400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr15:75108000-75109600	Weak transcription	Pancreas	Pancrea
26	chr15:75108000-75109800	Weak transcription	Liver	Liver
27	chr15:75108000-75113000	Weak transcription	Right Atrium	heart
28	chr15:75108200-75109200	Weak transcription	Fetal Heart	heart
29	chr15:75108200-75109200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr15:75108200-75109400	Weak transcription	Stomach Mucosa	stomach
31	chr15:75108200-75111000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr15:75108200-75111000	Weak transcription	GM12878-XiMat	blood
33	chr15:75108200-75111400	Weak transcription	HSMMtube	muscle
34	chr15:75108400-75109400	Weak transcription	Right Ventricle	heart
35	chr15:75108400-75109600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr15:75108400-75110400	Weak transcription	Gastric	stomach
37	chr15:75108400-75110600	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr15:75108600-75109800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr15:75108600-75110000	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr15:75108600-75110600	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr15:75108600-75111400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr15:75108600-75111600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr15:75108800-75109200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr15:75108800-75109400	Weak transcription	Left Ventricle	heart
45	chr15:75108800-75110000	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr15:75108800-75110000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr15:75108800-75110600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr15:75108800-75111400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr15:75108800-75112600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr15:75109000-75109200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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