Variant report

Variant	rs56156320
Chromosome Location	chr7:5632111-5632112
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	CHD1	chr7:5631009-5636685	IMR90	lung:	n/a	chr7:5633559-5633569 chr7:5633779-5633789 chr7:5634268-5634278 chr7:5634031-5634041 chr7:5632211-5632221
2	TFAP2C	chr7:5632038-5636534	Hela-S3	cervix:	n/a	chr7:5636210-5636219
3	ZNF143	chr7:5631758-5632563	H1-hESC	embryonic stem cell:	n/a	chr7:5631927-5631945
4	SMARCB1	chr7:5631057-5636588	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr7:5632011-5633649	H1-hESC	embryonic stem cell:	n/a	n/a
6	TCF12	chr7:5631002-5633216	A549	lung:	n/a	chr7:5631342-5631350
7	HMGN3	chr7:5631860-5634773	K562	blood:	n/a	n/a
8	E2F4	chr7:5632065-5632803	K562	blood:	n/a	chr7:5632396-5632405 chr7:5632345-5632360 chr7:5632398-5632407
9	ELF1	chr7:5631025-5633525	GM12878	blood:	n/a	n/a
10	SIN3A	chr7:5631708-5636356	H1-hESC	embryonic stem cell:	n/a	chr7:5634020-5634031 chr7:5634155-5634166 chr7:5631844-5631855 chr7:5636064-5636077 chr7:5634416-5634429
11	POLR2A	chr7:5632011-5633087	PANC-1	pancreas:	n/a	n/a
12	MAZ	chr7:5632003-5632786	HepG2	liver:	n/a	n/a
13	MAFK	chr7:5631164-5632657	Hela-S3	cervix:	n/a	chr7:5631755-5631765 chr7:5631407-5631422
14	ZNF143	chr7:5632004-5632660	GM12878	blood:	n/a	n/a
15	MXI1	chr7:5630851-5636675	IMR90	lung:	n/a	n/a
16	REST	chr7:5631714-5635616	H1-neurons	neurons:	n/a	chr7:5631945-5631959 chr7:5635601-5635614 chr7:5631899-5631919 chr7:5633778-5633791 chr7:5632173-5632182 chr7:5632171-5632184 chr7:5632356-5632369 chr7:5633601-5633614 chr7:5634850-5634863
17	RFX5	chr7:5630939-5632667	Hela-S3	cervix:	n/a	chr7:5631324-5631339 chr7:5631099-5631108 chr7:5631096-5631110
18	CREB1	chr7:5632096-5632762	K562	blood:	n/a	chr7:5632395-5632408
19	PML	chr7:5631678-5633210	GM12878	blood:	n/a	n/a
20	EP300	chr7:5632047-5632570	GM12878	blood:	n/a	chr7:5632504-5632520 chr7:5632533-5632549 chr7:5632208-5632224 chr7:5632501-5632510
21	IRF1	chr7:5632021-5632666	K562	blood:	n/a	chr7:5632363-5632377 chr7:5632376-5632390
22	GABPA	chr7:5631631-5632696	K562	blood:	n/a	chr7:5632501-5632515
23	MAZ	chr7:5630729-5633312	IMR90	lung:	n/a	n/a
24	MAX	chr7:5631996-5633250	HepG2	liver:	n/a	n/a
25	TBP	chr7:5631021-5632676	Hela-S3	cervix:	n/a	n/a
26	TCF7L2	chr7:5632022-5634593	HCT-116	colon:	n/a	chr7:5633899-5633908 chr7:5633900-5633910
27	POLR2A	chr7:5631924-5637018	K562	blood:	n/a	n/a
28	RCOR1	chr7:5631970-5632155	K562	blood:	n/a	n/a
29	CREB1	chr7:5631921-5632782	A549	lung:	n/a	chr7:5632395-5632408
30	CREB1	chr7:5631974-5632663	H1-hESC	embryonic stem cell:	n/a	chr7:5632395-5632408
31	MXI1	chr7:5630305-5637022	SK-N-SH	brain:	n/a	n/a
32	TCF12	chr7:5630256-5632776	SK-N-SH	brain:	n/a	chr7:5631342-5631350
33	POLR2A	chr7:5631911-5633218	MCF-7	breast:	n/a	n/a
34	CREB1	chr7:5632097-5632702	HepG2	liver:	n/a	chr7:5632395-5632408
35	POLR2A	chr7:5632111-5637101	GM12892	blood:	n/a	n/a
36	ZBTB7A	chr7:5630975-5633259	K562	blood:	n/a	n/a
37	MAX	chr7:5631958-5633529	NB4	blood:	n/a	chr7:5633415-5633425
38	HCFC1	chr7:5630655-5633320	Hela-S3	cervix:	n/a	n/a
39	MTA3	chr7:5631990-5632786	GM12878	blood:	n/a	n/a
40	ZBTB7A	chr7:5631951-5632782	K562	blood:	n/a	n/a
41	MAX	chr7:5631896-5633239	ECC-1	luminal epithelium:	n/a	n/a
42	CTCF	chr7:5631980-5632130	HAc	cerebellar:	n/a	n/a
43	RCOR1	chr7:5631034-5632668	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr7:5631999-5632911	PFSK-1	brain:	n/a	n/a
45	RUNX3	chr7:5631959-5632736	GM12878	blood:	n/a	n/a
46	POLR2A	chr7:5632000-5633567	GM12878	blood:	n/a	n/a
47	RCOR1	chr7:5631880-5633043	K562	blood:	n/a	n/a
48	JUND	chr7:5631844-5632610	H1-hESC	embryonic stem cell:	n/a	chr7:5632397-5632406
49	POLR2A	chr7:5632058-5633536	Hela-S3	cervix:	n/a	n/a
50	TEAD4	chr7:5631834-5633033	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:5595916..5598684-chr7:5631829..5634716,2	MCF-7	breast:
2	chr7:5631934..5632617-chr7:45025878..45026487,2	NB4	blood:
3	chr19:4342609..4343581-chr7:5632091..5632841,2	HCT-116	colon:
4	chr7:5632056..5632788-chr7:45038839..45039611,2	Hela-S3	cervix:
5	chr7:5551336..5555391-chr7:5631153..5637818,11	K562	blood:
6	chr7:5568810..5571119-chr7:5631190..5634069,5	MCF-7	breast:
7	chr7:5631406..5634130-chr7:5717559..5720896,4	K562	blood:
8	chr7:5601206..5603452-chr7:5630242..5632933,3	MCF-7	breast:
9	chr21:33651039..33651691-chr7:5632072..5632951,2	NB4	blood:
10	chr7:5630491..5634130-chr7:5717559..5720896,4	K562	blood:
11	chr2:3523253..3523969-chr7:5631984..5632856,2	NB4	blood:
12	chr7:5601103..5603390-chr7:5631508..5633975,3	MCF-7	breast:
13	chr7:5631641..5634228-chr7:6097200..6099216,2	K562	blood:
14	chr7:5534332..5536229-chr7:5631160..5633619,2	MCF-7	breast:
15	chr5:72860971..72861923-chr7:5632103..5632946,2	NB4	blood:
16	chr7:5563317..5574038-chr7:5630450..5643029,58	K562	blood:
17	chr22:29949841..29950776-chr7:5631996..5632681,2	Hela-S3	cervix:
18	chr7:5535012..5537544-chr7:5631683..5634179,2	MCF-7	breast:
19	chr7:5467671..5469912-chr7:5631901..5634167,2	MCF-7	breast:
20	chr7:5632011..5632551-chrX:48815296..48815823,2	Hela-S3	cervix:
21	chr7:5533112..5541360-chr7:5629989..5636364,13	K562	blood:

Variant related genes	Relation type
FSCN1	TF binding region
ENSG00000100296	Chromatin interaction
ENSG00000207973	Chromatin interaction
ENSG00000237738	Chromatin interaction
ENSG00000234432	Chromatin interaction
ENSG00000232956	Chromatin interaction
ENSG00000164331	Chromatin interaction
ENSG00000068308	Chromatin interaction
ENSG00000182551	Chromatin interaction
ENSG00000273084	Chromatin interaction
ENSG00000164338	Chromatin interaction
ENSG00000136280	Chromatin interaction
ENSG00000008382	Chromatin interaction
ENSG00000159055	Chromatin interaction
ENSG00000075624	Chromatin interaction
ENSG00000263900	Chromatin interaction
ENSG00000086232	Chromatin interaction
ENSG00000155034	Chromatin interaction
ENSG00000178078	Chromatin interaction
ENSG00000272719	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs3807588	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55898948	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6958118	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs6980456	0.85[ASN][1000 genomes]
rs73334433	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	esv1814049	chr7:5314993-5675131	Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	333 gene(s)	inside rSNPs	diseases
5	esv1820266	chr7:5332088-5665173	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
6	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
7	nsv887404	chr7:5402606-5667645	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
8	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
9	nsv887408	chr7:5432672-5667645	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
10	nsv830890	chr7:5464933-5705158	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
11	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
12	nsv1025434	chr7:5537571-5705283	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
13	nsv482449	chr7:5557585-5743673	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
14	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
15	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers 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 miRNA target site	357 gene(s)	inside rSNPs	diseases
16	nsv887414	chr7:5584934-5667645	Flanking Bivalent TSS/Enh Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
17	nsv887415	chr7:5584934-5675305	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
18	nsv887416	chr7:5584934-5695259	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
19	nsv530467	chr7:5617816-5815082	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
20	nsv1017612	chr7:5629728-5819144	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
21	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
22	esv3411018	chr7:5630951-5633799	Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5629400-5632400	Enhancers	Primary hematopoietic stem cells	blood
2	chr7:5629800-5632400	Enhancers	Spleen	Spleen
3	chr7:5630400-5633200	Enhancers	Fetal Heart	heart
4	chr7:5630600-5632400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:5631000-5632200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:5631000-5632200	Flanking Active TSS	A549	lung
7	chr7:5631000-5632200	Flanking Active TSS	Hela-S3	cervix
8	chr7:5631000-5632200	Flanking Active TSS	HSMM	muscle
9	chr7:5631000-5632400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
10	chr7:5631000-5632400	Enhancers	Lung	lung
11	chr7:5631200-5632200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr7:5631200-5632200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:5631200-5632200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
14	chr7:5631200-5632200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:5631200-5632200	Flanking Active TSS	Brain Hippocampus Middle	brain
16	chr7:5631200-5632200	Flanking Active TSS	K562	blood
17	chr7:5631200-5632200	Flanking Active TSS	NH-A	brain
18	chr7:5631200-5632400	Enhancers	Fetal Lung	lung
19	chr7:5631200-5632400	Enhancers	Placenta Amnion	Placenta Amnion
20	chr7:5631200-5632600	Enhancers	Fetal Brain Male	brain
21	chr7:5631200-5633000	Flanking Active TSS	Osteobl	bone
22	chr7:5631200-5633800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:5631200-5634600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:5631200-5636200	Active TSS	H9 Cell Line	embryonic stem cell
25	chr7:5631200-5636800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:5631400-5632200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr7:5631400-5632400	Bivalent Enhancer	Fetal Thymus	thymus
28	chr7:5631600-5632200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:5631600-5632200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
30	chr7:5631600-5632200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:5631600-5632200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:5631600-5632200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr7:5631600-5632200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:5631600-5632200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:5631600-5632200	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr7:5631600-5632200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
37	chr7:5631600-5632200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr7:5631600-5632200	Flanking Active TSS	Brain Substantia Nigra	brain
39	chr7:5631600-5632200	Enhancers	Esophagus	oesophagus
40	chr7:5631600-5632200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
41	chr7:5631600-5632200	Flanking Active TSS	GM12878-XiMat	blood
42	chr7:5631600-5632200	Flanking Active TSS	HMEC	breast
43	chr7:5631600-5632400	Enhancers	Primary B cells from cord blood	blood
44	chr7:5631600-5632400	Enhancers	Liver	Liver
45	chr7:5631600-5632400	Enhancers	Pancreas	Pancrea
46	chr7:5631600-5635600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
47	chr7:5631600-5636400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr7:5631600-5636800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr7:5631800-5632200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
50	chr7:5631800-5632200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell

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