Variant report

Variant	rs557303397
Chromosome Location	chr5:16179269-16179270
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	MXI1	chr5:16177252-16182613	SK-N-SH	brain:	n/a	n/a
2	RAD21	chr5:16178933-16179535	H1-hESC	embryonic stem cell:	n/a	chr5:16179113-16179127
3	REST	chr5:16178898-16179339	SK-N-SH	brain:	n/a	chr5:16179067-16179076 chr5:16179070-16179083 chr5:16179070-16179083 chr5:16179067-16179087 chr5:16179073-16179087 chr5:16179072-16179081 chr5:16179067-16179087 chr5:16179068-16179086 chr5:16179075-16179085 chr5:16179067-16179087
4	REST	chr5:16178580-16179556	H1-neurons	neurons:	n/a	chr5:16179067-16179076 chr5:16179070-16179083 chr5:16179070-16179083 chr5:16179067-16179087 chr5:16179073-16179087 chr5:16179072-16179081 chr5:16179067-16179087 chr5:16179068-16179086 chr5:16179075-16179085 chr5:16179067-16179087
5	SIN3A	chr5:16178871-16179461	H1-hESC	embryonic stem cell:	n/a	chr5:16179072-16179086 chr5:16179071-16179081
6	YY1	chr5:16178893-16179284	H1-hESC	embryonic stem cell:	n/a	n/a
7	REST	chr5:16178850-16179327	GM12878	blood:	n/a	chr5:16179067-16179076 chr5:16179070-16179083 chr5:16179070-16179083 chr5:16179067-16179087 chr5:16179073-16179087 chr5:16179072-16179081 chr5:16179067-16179087 chr5:16179068-16179086 chr5:16179075-16179085 chr5:16179067-16179087
8	TBP	chr5:16178972-16179358	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr5:16179200-16179350	HRPEpiC	eye:	n/a	n/a
10	REST	chr5:16178726-16179305	HepG2	liver:	n/a	chr5:16179067-16179076 chr5:16179070-16179083 chr5:16179070-16179083 chr5:16179067-16179087 chr5:16179073-16179087 chr5:16179072-16179081 chr5:16179067-16179087 chr5:16179068-16179086 chr5:16179075-16179085 chr5:16179067-16179087
11	GATA3	chr5:16178936-16179278	T-47D	breast:	n/a	chr5:16178977-16178987
12	REST	chr5:16178828-16179450	SK-N-SH	brain:	n/a	chr5:16179067-16179076 chr5:16179070-16179083 chr5:16179070-16179083 chr5:16179067-16179087 chr5:16179073-16179087 chr5:16179072-16179081 chr5:16179067-16179087 chr5:16179068-16179086 chr5:16179075-16179085 chr5:16179067-16179087
13	MAX	chr5:16178882-16179405	ECC-1	luminal epithelium:	n/a	n/a
14	REST	chr5:16178761-16179511	H1-hESC	embryonic stem cell:	n/a	chr5:16179067-16179076 chr5:16179070-16179083 chr5:16179070-16179083 chr5:16179067-16179087 chr5:16179073-16179087 chr5:16179072-16179081 chr5:16179067-16179087 chr5:16179068-16179086 chr5:16179075-16179085 chr5:16179067-16179087
15	EGR1	chr5:16178924-16179279	H1-hESC	embryonic stem cell:	n/a	n/a
16	TEAD4	chr5:16178750-16179417	A549	lung:	n/a	n/a
17	REST	chr5:16178804-16179341	H1-hESC	embryonic stem cell:	n/a	chr5:16179067-16179076 chr5:16179070-16179083 chr5:16179070-16179083 chr5:16179067-16179087 chr5:16179073-16179087 chr5:16179072-16179081 chr5:16179067-16179087 chr5:16179068-16179086 chr5:16179075-16179085 chr5:16179067-16179087
18	CTCF	chr5:16178992-16179431	MCF-7	breast:	n/a	chr5:16179111-16179124
19	CTCF	chr5:16179240-16179390	HUVEC	blood vessel:	n/a	n/a
20	REST	chr5:16178556-16179465	ECC-1	luminal epithelium:	n/a	chr5:16179067-16179076 chr5:16179070-16179083 chr5:16179070-16179083 chr5:16179067-16179087 chr5:16179073-16179087 chr5:16179072-16179081 chr5:16179067-16179087 chr5:16179068-16179086 chr5:16179075-16179085 chr5:16179067-16179087
21	REST	chr5:16178858-16179280	HCT-116	colon:	n/a	chr5:16179067-16179076 chr5:16179070-16179083 chr5:16179070-16179083 chr5:16179067-16179087 chr5:16179073-16179087 chr5:16179072-16179081 chr5:16179067-16179087 chr5:16179068-16179086 chr5:16179075-16179085 chr5:16179067-16179087
22	SIN3AK20	chr5:16178888-16179273	H1-hESC	embryonic stem cell:	n/a	n/a
23	REST	chr5:16178902-16179325	U87	brain:	n/a	chr5:16179067-16179076 chr5:16179070-16179083 chr5:16179070-16179083 chr5:16179067-16179087 chr5:16179073-16179087 chr5:16179072-16179081 chr5:16179067-16179087 chr5:16179068-16179086 chr5:16179075-16179085 chr5:16179067-16179087
24	RAD21	chr5:16178931-16179493	H1-hESC	embryonic stem cell:	n/a	chr5:16179113-16179127
25	REST	chr5:16178556-16179809	PFSK-1	brain:	n/a	chr5:16179067-16179076 chr5:16179070-16179083 chr5:16179070-16179083 chr5:16179067-16179087 chr5:16179073-16179087 chr5:16179072-16179081 chr5:16179067-16179087 chr5:16179068-16179086 chr5:16179075-16179085 chr5:16179067-16179087
26	YY1	chr5:16178857-16179427	H1-hESC	embryonic stem cell:	n/a	n/a
27	ZNF143	chr5:16178881-16179308	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAX	chr5:16178826-16179406	MCF-7	breast:	n/a	n/a
29	CTCF	chr5:16179010-16179444	MCF-7	breast:	n/a	chr5:16179111-16179124
30	REST	chr5:16178529-16179475	MCF-7	breast:	n/a	chr5:16179067-16179076 chr5:16179070-16179083 chr5:16179070-16179083 chr5:16179067-16179087 chr5:16179073-16179087 chr5:16179072-16179081 chr5:16179067-16179087 chr5:16179068-16179086 chr5:16179075-16179085 chr5:16179067-16179087
31	CTCF	chr5:16179258-16179441	LNCaP	prostate:	n/a	n/a
32	REST	chr5:16178510-16179799	ECC-1	luminal epithelium:	n/a	chr5:16179067-16179076 chr5:16179070-16179083 chr5:16179070-16179083 chr5:16179067-16179087 chr5:16179073-16179087 chr5:16179072-16179081 chr5:16179067-16179087 chr5:16179068-16179086 chr5:16179075-16179085 chr5:16179067-16179087
33	REST	chr5:16178785-16179362	U87	brain:	n/a	chr5:16179067-16179076 chr5:16179070-16179083 chr5:16179070-16179083 chr5:16179067-16179087 chr5:16179073-16179087 chr5:16179072-16179081 chr5:16179067-16179087 chr5:16179068-16179086 chr5:16179075-16179085 chr5:16179067-16179087
34	REST	chr5:16178754-16179280	PANC-1	pancreas:	n/a	chr5:16179067-16179076 chr5:16179070-16179083 chr5:16179070-16179083 chr5:16179067-16179087 chr5:16179073-16179087 chr5:16179072-16179081 chr5:16179067-16179087 chr5:16179068-16179086 chr5:16179075-16179085 chr5:16179067-16179087
35	REST	chr5:16178910-16179283	HCT-116	colon:	n/a	chr5:16179067-16179076 chr5:16179070-16179083 chr5:16179070-16179083 chr5:16179067-16179087 chr5:16179073-16179087 chr5:16179072-16179081 chr5:16179067-16179087 chr5:16179068-16179086 chr5:16179075-16179085 chr5:16179067-16179087
36	REST	chr5:16178850-16179366	HepG2	liver:	n/a	chr5:16179067-16179076 chr5:16179070-16179083 chr5:16179070-16179083 chr5:16179067-16179087 chr5:16179073-16179087 chr5:16179072-16179081 chr5:16179067-16179087 chr5:16179068-16179086 chr5:16179075-16179085 chr5:16179067-16179087
37	CTCF	chr5:16179200-16179350	WERI-Rb-1	eye:	n/a	n/a
38	REST	chr5:16178787-16179360	U87	brain:	n/a	chr5:16179067-16179076 chr5:16179070-16179083 chr5:16179070-16179083 chr5:16179067-16179087 chr5:16179073-16179087 chr5:16179072-16179081 chr5:16179067-16179087 chr5:16179068-16179086 chr5:16179075-16179085 chr5:16179067-16179087
39	HDAC2	chr5:16178902-16179432	MCF-7	breast:	n/a	chr5:16179067-16179086
40	REST	chr5:16179260-16179489	K562	blood:	n/a	n/a
41	REST	chr5:16178659-16179575	SK-N-SH	brain:	n/a	chr5:16179067-16179076 chr5:16179070-16179083 chr5:16179070-16179083 chr5:16179067-16179087 chr5:16179073-16179087 chr5:16179072-16179081 chr5:16179067-16179087 chr5:16179068-16179086 chr5:16179075-16179085 chr5:16179067-16179087
42	REST	chr5:16178726-16179402	GM12878	blood:	n/a	chr5:16179067-16179076 chr5:16179070-16179083 chr5:16179070-16179083 chr5:16179067-16179087 chr5:16179073-16179087 chr5:16179072-16179081 chr5:16179067-16179087 chr5:16179068-16179086 chr5:16179075-16179085 chr5:16179067-16179087
43	REST	chr5:16178854-16179495	SK-N-SH	brain:	n/a	chr5:16179067-16179076 chr5:16179070-16179083 chr5:16179070-16179083 chr5:16179067-16179087 chr5:16179073-16179087 chr5:16179072-16179081 chr5:16179067-16179087 chr5:16179068-16179086 chr5:16179075-16179085 chr5:16179067-16179087
44	CTBP2	chr5:16178961-16179519	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr5:16179016-16179460	MCF-7	breast:	n/a	chr5:16179111-16179124
46	REST	chr5:16178797-16179386	PFSK-1	brain:	n/a	chr5:16179067-16179076 chr5:16179070-16179083 chr5:16179070-16179083 chr5:16179067-16179087 chr5:16179073-16179087 chr5:16179072-16179081 chr5:16179067-16179087 chr5:16179068-16179086 chr5:16179075-16179085 chr5:16179067-16179087
47	REST	chr5:16178919-16179291	HepG2	liver:	n/a	chr5:16179067-16179076 chr5:16179070-16179083 chr5:16179070-16179083 chr5:16179067-16179087 chr5:16179073-16179087 chr5:16179072-16179081 chr5:16179067-16179087 chr5:16179068-16179086 chr5:16179075-16179085 chr5:16179067-16179087
48	CTCF	chr5:16179260-16179410	BE2_C	brain:	n/a	n/a
49	EP300	chr5:16178862-16179409	H1-hESC	embryonic stem cell:	n/a	chr5:16178915-16178924
50	HDAC2	chr5:16178909-16179270	MCF-7	breast:	n/a	chr5:16179067-16179086

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:16177598..16179739-chr5:16465554..16467569,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250448	TF binding region
MARCH11	TF binding region
ENSG00000173545	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830217	chr5:16004704-16225229	Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv1838286	chr5:16150721-16180167	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	esv1848638	chr5:16150721-16180167	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv1793388	chr5:16159343-16179704	Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv597297	chr5:16174133-16180115	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv3407056	chr5:16177977-16180525	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv3359354	chr5:16178477-16181525	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv3498640	chr5:16178577-16181350	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv3498642	chr5:16178577-16181350	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv17791	chr5:16179167-16180231	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
11	nsv597298	chr5:16179194-16179867	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
12	nsv597299	chr5:16179194-16180059	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
13	nsv597300	chr5:16179194-16180115	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
14	nsv597301	chr5:16179194-16180167	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
15	nsv597302	chr5:16179245-16179816	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
16	nsv597303	chr5:16179245-16179867	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
17	nsv597304	chr5:16179245-16180059	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
18	nsv597305	chr5:16179245-16180115	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16178000-16179400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr5:16178200-16179400	Active TSS	Brain Anterior Caudate	brain
3	chr5:16178400-16179400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:16178400-16179400	Active TSS	Brain Cingulate Gyrus	brain
5	chr5:16178400-16179400	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr5:16178600-16179400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
7	chr5:16178600-16179600	Enhancers	Gastric	stomach
8	chr5:16178600-16180200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:16178600-16181000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
10	chr5:16178800-16179400	Bivalent/Poised TSS	NH-A	brain
11	chr5:16178800-16179800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:16178800-16180600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr5:16179000-16179400	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr5:16179000-16179400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr5:16179000-16179400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
16	chr5:16179000-16179400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:16179000-16179400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
18	chr5:16179000-16179400	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
19	chr5:16179000-16179400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
20	chr5:16179000-16179400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:16179000-16179400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:16179000-16179400	Bivalent/Poised TSS	Colonic Mucosa	Colon
23	chr5:16179000-16179400	Bivalent Enhancer	Esophagus	oesophagus
24	chr5:16179000-16179400	Flanking Bivalent TSS/Enh	Left Ventricle	heart
25	chr5:16179000-16179400	Flanking Bivalent TSS/Enh	Ovary	ovary
26	chr5:16179000-16179400	Flanking Active TSS	Right Ventricle	heart
27	chr5:16179000-16179400	Bivalent Enhancer	Spleen	Spleen
28	chr5:16179000-16179400	Bivalent Enhancer	HMEC	breast
29	chr5:16179000-16179400	Active TSS	HSMM	muscle
30	chr5:16179000-16179400	Bivalent/Poised TSS	HSMMtube	muscle
31	chr5:16179000-16179600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr5:16179000-16179600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:16179000-16179600	Bivalent Enhancer	Psoas Muscle	Psoas
34	chr5:16179000-16179600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
35	chr5:16179000-16179800	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr5:16179000-16179800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr5:16179000-16179800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:16179000-16180000	Active TSS	H1 Cell Line	embryonic stem cell
39	chr5:16179000-16180000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr5:16179000-16180000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:16179000-16180000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr5:16179000-16180000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr5:16179000-16180000	Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr5:16179000-16180200	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr5:16179000-16180200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr5:16179000-16180200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr5:16179000-16180200	Active TSS	Fetal Brain Female	brain
48	chr5:16179000-16180200	Active TSS	Pancreas	Pancrea
49	chr5:16179000-16180200	Active TSS	Right Atrium	heart
50	chr5:16179000-16180400	Active TSS	H9 Cell Line	embryonic stem cell

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