Variant report

Variant	rs17604707
Chromosome Location	chr16:75019777-75019778
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	ZNF384	chr16:75019035-75021261	K562	blood:	n/a	n/a
2	CTCF	chr16:75019723-75019813	Hela-S3	cervix:	n/a	n/a
3	GTF3C2	chr16:75019190-75020169	Hela-S3	cervix:	n/a	n/a
4	HCFC1	chr16:75018351-75019870	K562	blood:	n/a	n/a
5	JUN	chr16:75018268-75020068	K562	blood:	n/a	chr16:75019160-75019170 chr16:75019160-75019170 chr16:75019161-75019169
6	RPC155	chr16:75019315-75020212	Hela-S3	cervix:	n/a	n/a
7	GTF3C2	chr16:75018096-75020464	K562	blood:	n/a	n/a
8	SREBP1	chr16:75018139-75019907	GM12878	blood:	n/a	n/a
9	TCF12	chr16:75019587-75019956	ECC-1	luminal epithelium:	n/a	n/a
10	MAZ	chr16:75018289-75019827	IMR90	lung:	n/a	chr16:75018734-75018744 chr16:75019196-75019206 chr16:75018798-75018807
11	JUND	chr16:75018835-75020011	K562	blood:	n/a	chr16:75019160-75019170 chr16:75019160-75019170 chr16:75019161-75019169
12	HCFC1	chr16:75018194-75020101	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr16:75019690-75020035	K562	blood:	n/a	n/a
14	TCF12	chr16:75018437-75019987	A549	lung:	n/a	n/a
15	MAX	chr16:75018178-75019963	A549	lung:	n/a	chr16:75018734-75018744 chr16:75019196-75019206 chr16:75018798-75018807
16	POLR2A	chr16:75019648-75020221	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr16:75018252-75020633	Hela-S3	cervix:	n/a	n/a
18	TBP	chr16:75019670-75019983	Hela-S3	cervix:	n/a	n/a
19	SIX5	chr16:75018809-75019948	A549	lung:	n/a	chr16:75019217-75019226 chr16:75019219-75019228
20	NR2F2	chr16:75018845-75020013	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:75017176..75020879-chr16:75136060..75140307,4	MCF-7	breast:
2	chr16:75017382..75020752-chr16:75031134..75034714,6	K562	blood:
3	chr16:75011213..75014940-chr16:75018316..75020255,4	K562	blood:
4	chr16:75019249..75023632-chr16:75023829..75027547,5	K562	blood:
5	chr16:75016953..75020842-chr16:75032358..75036790,7	MCF-7	breast:
6	chr16:75019194..75020814-chr16:75102817..75105494,2	K562	blood:
7	chr16:75017075..75020366-chr16:75030262..75034812,8	MCF-7	breast:
8	chr16:75017521..75019895-chr16:75149694..75151982,2	MCF-7	breast:
9	chr16:75017144..75020184-chr16:75142382..75149373,11	MCF-7	breast:
10	chr16:75016216..75020652-chr16:75140898..75145362,6	K562	blood:

Variant related genes	Relation type
WDR59	TF binding region
ENSG00000103091	Chromatin interaction
ENSG00000186187	Chromatin interaction
ENSG00000247033	Chromatin interaction
ENSG00000166816	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11862463	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11865599	1.00[JPT][hapmap]
rs11866976	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12446957	1.00[CHB][hapmap]
rs16949666	1.00[JPT][hapmap]
rs16949679	1.00[JPT][hapmap]
rs17605046	1.00[CHB][hapmap]

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	nsv949374	chr16:74466960-75172358	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
3	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
4	esv3345041	chr16:74756263-75066969	Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	nsv431516	chr16:74840166-75099566	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
7	nsv833280	chr16:74855811-75077227	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	nsv1066130	chr16:74983759-75231161	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv1056082	chr16:75004990-75295847	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75018200-75019800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr16:75018200-75020000	Active TSS	A549	lung
3	chr16:75018400-75019800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr16:75018400-75020000	Active TSS	K562	blood
5	chr16:75018600-75019800	Active TSS	Rectal Smooth Muscle	rectum
6	chr16:75018600-75020600	Active TSS	Hela-S3	cervix
7	chr16:75019200-75024200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr16:75019400-75019800	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr16:75019400-75019800	Enhancers	HSMM	muscle
10	chr16:75019400-75019800	Enhancers	HSMMtube	muscle
11	chr16:75019400-75020800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr16:75019400-75022800	Weak transcription	Liver	Liver
13	chr16:75019400-75022800	Enhancers	HepG2	liver
14	chr16:75019400-75023000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr16:75019400-75024200	Weak transcription	Fetal Intestine Large	intestine
16	chr16:75019400-75024200	Weak transcription	Fetal Intestine Small	intestine
17	chr16:75019400-75024800	Weak transcription	Fetal Thymus	thymus
18	chr16:75019400-75025400	Weak transcription	Fetal Heart	heart
19	chr16:75019400-75032400	Weak transcription	Right Atrium	heart
20	chr16:75019400-75033000	Weak transcription	Gastric	stomach
21	chr16:75019600-75019800	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr16:75019600-75019800	Flanking Active TSS	Placenta	Placenta
23	chr16:75019600-75019800	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr16:75019600-75019800	Enhancers	Dnd41	blood
25	chr16:75019600-75021800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr16:75019600-75022800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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