Variant report

Variant	rs548197962
Chromosome Location	chr15:78112640-78112641
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	CTCF	chr15:78112640-78112790	HCM	heart:	n/a	chr15:78112771-78112781
2	RAD21	chr15:78112612-78112868	K562	blood:	n/a	chr15:78112772-78112782
3	CTCF	chr15:78112640-78112790	MCF-7	breast:	n/a	chr15:78112771-78112781
4	MYC	chr15:78112576-78112907	K562	blood:	n/a	n/a
5	RAD21	chr15:78112615-78112919	SK-N-SH_RA	brain:	n/a	chr15:78112772-78112782
6	RAD21	chr15:78112493-78112942	MCF-7	breast:	n/a	chr15:78112772-78112782
7	REST	chr15:78112469-78112837	PFSK-1	brain:	n/a	n/a
8	CTCF	chr15:78112465-78113115	HCT-116	colon:	n/a	chr15:78112615-78112628 chr15:78112615-78112624 chr15:78112771-78112781
9	CTCF	chr15:78112551-78112916	A549	lung:	n/a	chr15:78112615-78112628 chr15:78112615-78112624 chr15:78112771-78112781
10	MAZ	chr15:78112538-78112940	K562	blood:	n/a	n/a
11	MAX	chr15:78111477-78113075	A549	lung:	n/a	n/a
12	MAX	chr15:78112425-78113011	A549	lung:	n/a	n/a
13	SIN3A	chr15:78112186-78112954	H1-hESC	embryonic stem cell:	n/a	chr15:78112779-78112790
14	BHLHE40	chr15:78112561-78112947	K562	blood:	n/a	n/a
15	JUND	chr15:78112626-78112856	K562	blood:	n/a	n/a
16	CTCF	chr15:78112601-78112851	T-47D	breast:	n/a	chr15:78112615-78112628 chr15:78112615-78112624 chr15:78112771-78112781
17	REST	chr15:78111340-78112967	H1-neurons	neurons:	n/a	chr15:78111574-78111587 chr15:78111549-78111562 chr15:78111552-78111565 chr15:78111572-78111590 chr15:78111748-78111761 chr15:78111574-78111587
18	MAX	chr15:78112127-78113107	H1-hESC	embryonic stem cell:	n/a	n/a
19	ZNF263	chr15:78111583-78114384	HEK293-T-REx	kidney:	n/a	chr15:78113198-78113207
20	CTCF	chr15:78112615-78112856	SK-N-SH_RA	brain:	n/a	chr15:78112615-78112628 chr15:78112615-78112624 chr15:78112771-78112781
21	YY1	chr15:78112634-78112869	HCT-116	colon:	n/a	n/a
22	UBTF	chr15:78112134-78112978	K562	blood:	n/a	n/a
23	CTCF	chr15:78112223-78114736	SK-N-SH	brain:	n/a	chr15:78112615-78112628 chr15:78112615-78112624 chr15:78112771-78112781 chr15:78113982-78114000
24	RAD21	chr15:78112544-78112958	SK-N-SH_RA	brain:	n/a	chr15:78112772-78112782
25	CTCF	chr15:78112610-78112948	GM12878	blood:	n/a	chr15:78112615-78112628 chr15:78112615-78112624 chr15:78112771-78112781
26	CTCF	chr15:78112512-78112875	H1-hESC	embryonic stem cell:	n/a	chr15:78112615-78112628 chr15:78112615-78112624 chr15:78112771-78112781
27	SMC3	chr15:78112627-78113047	K562	blood:	n/a	chr15:78112772-78112782
28	MAX	chr15:78112603-78112893	K562	blood:	n/a	n/a
29	CTCF	chr15:78112557-78112968	K562	blood:	n/a	chr15:78112615-78112628 chr15:78112615-78112624 chr15:78112771-78112781
30	CTCF	chr15:78112578-78112897	K562	blood:	n/a	chr15:78112615-78112628 chr15:78112615-78112624 chr15:78112771-78112781
31	CTCF	chr15:78112509-78113097	MCF-7	breast:	n/a	chr15:78112615-78112628 chr15:78112615-78112624 chr15:78112771-78112781
32	CTCF	chr15:78112630-78112900	A549	lung:	n/a	chr15:78112771-78112781
33	RAD21	chr15:78112597-78112944	H1-hESC	embryonic stem cell:	n/a	chr15:78112772-78112782
34	CTCF	chr15:78112626-78112946	K562	blood:	n/a	chr15:78112771-78112781
35	MAX	chr15:78112631-78112778	K562	blood:	n/a	n/a
36	MXI1	chr15:78112595-78112705	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr15:78111620-78118444	SK-N-MC	brain:	n/a	n/a
38	CTCF	chr15:78112580-78112730	GM12865	blood:	n/a	chr15:78112615-78112628 chr15:78112615-78112624
39	HMGN3	chr15:78112346-78112946	K562	blood:	n/a	n/a
40	POLR2A	chr15:78111325-78112987	H1-neurons	neurons:	n/a	n/a
41	RAD21	chr15:78112578-78112909	HepG2	liver:	n/a	chr15:78112772-78112782
42	UBTF	chr15:78112431-78112923	K562	blood:	n/a	n/a
43	POLR2A	chr15:78112194-78112776	H1-neurons	neurons:	n/a	n/a
44	E2F6	chr15:78112416-78112950	A549	lung:	n/a	chr15:78112646-78112657 chr15:78112466-78112475
45	ZBTB7A	chr15:78112445-78112989	ECC-1	luminal epithelium:	n/a	chr15:78112774-78112783 chr15:78112621-78112629
46	RAD21	chr15:78112385-78113087	SK-N-SH	brain:	n/a	chr15:78112772-78112782 chr15:78112433-78112445
47	BACH1	chr15:78112581-78112794	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr15:78112640-78112790	HRPEpiC	eye:	n/a	chr15:78112771-78112781
49	RAD21	chr15:78112326-78113049	H1-hESC	embryonic stem cell:	n/a	chr15:78112772-78112782 chr15:78112433-78112445
50	CREB1	chr15:78112210-78112963	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:77923251..77928296-chr15:78111448..78115771,8	MCF-7	breast:
2	chr15:78109668..78112280-chr15:78112604..78115106,3	MCF-7	breast:
3	chr15:77925397..77928069-chr15:78112259..78116246,3	K562	blood:
4	chr15:77925397..77927315-chr15:78112259..78115116,2	K562	blood:
5	chr15:77925299..77927652-chr15:78112444..78114100,3	MCF-7	breast:
6	chr15:77925435..77927439-chr15:78112259..78115090,22	K562	blood:
7	chr15:77925072..77927787-chr15:78111223..78115888,59	MCF-7	breast:

Variant related genes	Relation type
LINGO1	TF binding region
ENSG00000169783	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040852	chr15:77160237-78137541	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv916323	chr15:77485765-78121259	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv1806097	chr15:77817889-78301377	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS 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	30 gene(s)	inside rSNPs	diseases
4	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv833061	chr15:77998374-78121905	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv833062	chr15:78035206-78220358	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv904421	chr15:78041789-78129964	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv904423	chr15:78059488-78119345	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv904424	chr15:78059488-78158893	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv471255	chr15:78063585-78131097	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv570171	chr15:78064664-78131097	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv904425	chr15:78064664-78153850	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	esv1833316	chr15:78081307-78328108	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
14	nsv904426	chr15:78090630-78264164	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
15	esv1806493	chr15:78106177-78119345	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	esv3321779	chr15:78109497-78113895	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
17	esv3422045	chr15:78110122-78112870	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
18	esv3375400	chr15:78110347-78113670	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
19	esv16103	chr15:78111094-78112815	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
20	nsv570179	chr15:78111223-78113421	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
21	esv1796951	chr15:78111223-78119345	Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
22	esv1849555	chr15:78111223-78119345	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
23	nsv570194	chr15:78111443-78113421	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
24	esv1813777	chr15:78111702-78119345	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78110600-78112800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr15:78110600-78112800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
3	chr15:78110600-78113000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr15:78110600-78113000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr15:78110600-78113200	Active TSS	Brain Angular Gyrus	brain
6	chr15:78110800-78112800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr15:78110800-78112800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr15:78110800-78113000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr15:78111000-78112800	Active TSS	H9 Cell Line	embryonic stem cell
10	chr15:78111000-78112800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr15:78111000-78112800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
12	chr15:78111000-78112800	Bivalent/Poised TSS	Ovary	ovary
13	chr15:78111000-78113000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr15:78111000-78113600	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr15:78111200-78112800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
16	chr15:78111200-78112800	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr15:78111200-78112800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr15:78111200-78112800	Enhancers	Primary B cells from cord blood	blood
19	chr15:78111200-78112800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr15:78111200-78112800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr15:78111200-78112800	Bivalent/Poised TSS	A549	lung
22	chr15:78111200-78113000	Active TSS	Brain Anterior Caudate	brain
23	chr15:78111600-78112800	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr15:78111600-78112800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
25	chr15:78111600-78112800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr15:78111600-78112800	Enhancers	Liver	Liver
27	chr15:78111600-78112800	Bivalent/Poised TSS	Left Ventricle	heart
28	chr15:78111600-78112800	Flanking Active TSS	Pancreas	Pancrea
29	chr15:78111600-78112800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
30	chr15:78111600-78112800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
31	chr15:78111600-78113000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr15:78111600-78113000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr15:78111800-78112800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr15:78111800-78112800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr15:78111800-78112800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
36	chr15:78111800-78112800	Bivalent Enhancer	Lung	lung
37	chr15:78111800-78112800	Bivalent/Poised TSS	HepG2	liver
38	chr15:78112000-78112800	Bivalent Enhancer	Adipose Nuclei	Adipose
39	chr15:78112000-78112800	Bivalent Enhancer	Fetal Lung	lung
40	chr15:78112000-78112800	Bivalent/Poised TSS	Psoas Muscle	Psoas
41	chr15:78112000-78112800	Active TSS	Right Atrium	heart
42	chr15:78112000-78112800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
43	chr15:78112000-78112800	Bivalent Enhancer	HMEC	breast
44	chr15:78112000-78113000	Bivalent/Poised TSS	Esophagus	oesophagus
45	chr15:78112000-78114200	Bivalent Enhancer	Placenta	Placenta
46	chr15:78112200-78112800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
47	chr15:78112200-78113000	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr15:78112400-78112800	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
49	chr15:78112400-78112800	Enhancers	Gastric	stomach
50	chr15:78112400-78112800	Bivalent/Poised TSS	Right Ventricle	heart

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