Variant report

Variant	rs342549
Chromosome Location	chr5:16178920-16178921
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	REST	chr5:16178912-16179172	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
2	MXI1	chr5:16177252-16182613	SK-N-SH	brain:	n/a	n/a
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	REST	chr5:16178688-16179262	A549	lung:	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
9	REST	chr5:16178885-16179261	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
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	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
12	MAX	chr5:16178882-16179405	ECC-1	luminal epithelium:	n/a	n/a
13	REST	chr5:16178882-16179230	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
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	TEAD4	chr5:16178750-16179417	A549	lung:	n/a	n/a
16	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
17	REST	chr5:16178476-16179253	Hela-S3	cervix:	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	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
19	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
20	SIN3AK20	chr5:16178888-16179273	H1-hESC	embryonic stem cell:	n/a	n/a
21	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
22	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
23	YY1	chr5:16178857-16179427	H1-hESC	embryonic stem cell:	n/a	n/a
24	ZNF143	chr5:16178881-16179308	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAX	chr5:16178826-16179406	MCF-7	breast:	n/a	n/a
26	CBX3	chr5:16178898-16179206	K562	blood:	n/a	n/a
27	REST	chr5:16178879-16179254	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	CHD2	chr5:16178920-16179263	H1-hESC	embryonic stem cell:	n/a	chr5:16179097-16179107
36	REST	chr5:16178786-16179259	A549	lung:	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	HDAC2	chr5:16178902-16179432	MCF-7	breast:	n/a	chr5:16179067-16179086
38	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
39	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
40	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
41	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
42	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
43	EP300	chr5:16178862-16179409	H1-hESC	embryonic stem cell:	n/a	chr5:16178915-16178924
44	GATA3	chr5:16178903-16179246	T-47D	breast:	n/a	chr5:16178977-16178987
45	MAX	chr5:16178911-16179199	H1-hESC	embryonic stem cell:	n/a	n/a
46	HDAC2	chr5:16178909-16179270	MCF-7	breast:	n/a	chr5:16179067-16179086
47	REST	chr5:16178706-16179814	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
48	REST	chr5:16178829-16179269	Hela-S3	cervix:	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
49	ATF2	chr5:16178853-16179248	H1-hESC	embryonic stem cell:	n/a	n/a
50	SIN3AK20	chr5:16178700-16179517	MCF-7	breast:	n/a	n/a

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: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs163726	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs237066	0.81[EUR][1000 genomes]
rs342559	0.86[AMR][1000 genomes]

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	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

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16178000-16179400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr5:16178200-16179000	Active TSS	Fetal Heart	heart
3	chr5:16178200-16179200	Active TSS	Brain Angular Gyrus	brain
4	chr5:16178200-16179400	Active TSS	Brain Anterior Caudate	brain
5	chr5:16178400-16179000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
6	chr5:16178400-16179400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:16178400-16179400	Active TSS	Brain Cingulate Gyrus	brain
8	chr5:16178400-16179400	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr5:16178600-16179000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
10	chr5:16178600-16179400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
11	chr5:16178600-16179600	Enhancers	Gastric	stomach
12	chr5:16178600-16180200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:16178600-16181000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
14	chr5:16178800-16179000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr5:16178800-16179000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:16178800-16179000	Enhancers	H9 Cell Line	embryonic stem cell
17	chr5:16178800-16179000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
18	chr5:16178800-16179000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
19	chr5:16178800-16179000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
20	chr5:16178800-16179000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:16178800-16179000	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
22	chr5:16178800-16179000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
23	chr5:16178800-16179000	Bivalent Enhancer	Fetal Intestine Small	intestine
24	chr5:16178800-16179000	Bivalent Enhancer	Ovary	ovary
25	chr5:16178800-16179000	Enhancers	Right Ventricle	heart
26	chr5:16178800-16179200	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
27	chr5:16178800-16179400	Bivalent/Poised TSS	NH-A	brain
28	chr5:16178800-16179800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr5:16178800-16180600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell

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