Variant report

Variant	rs6883791
Chromosome Location	chr5:179921293-179921294
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	ELF1	chr5:179920925-179922244	GM12878	blood:	n/a	chr5:179921385-179921397 chr5:179921995-179922007 chr5:179921997-179922006 chr5:179921350-179921359 chr5:179921994-179922003 chr5:179922000-179922009
2	MAX	chr5:179920946-179922370	MCF-7	breast:	n/a	n/a
3	NFYB	chr5:179921167-179921478	Hela-S3	cervix:	n/a	chr5:179921316-179921331
4	TAF1	chr5:179921036-179922192	HepG2	liver:	n/a	n/a
5	TEAD4	chr5:179920985-179921495	ECC-1	luminal epithelium:	n/a	n/a
6	IRF1	chr5:179921046-179921791	K562	blood:	n/a	chr5:179921245-179921259
7	YY1	chr5:179921163-179921566	HCT-116	colon:	n/a	chr5:179921391-179921410 chr5:179921246-179921255 chr5:179921390-179921410 chr5:179921389-179921398 chr5:179921393-179921403
8	EGR1	chr5:179921073-179921583	K562	blood:	n/a	chr5:179921241-179921254 chr5:179921241-179921254 chr5:179921246-179921256
9	POLR2A	chr5:179921074-179921676	HepG2	liver:	n/a	n/a
10	IRF3	chr5:179921223-179921407	GM12878	blood:	n/a	chr5:179921245-179921259
11	REST	chr5:179921186-179921538	PANC-1	pancreas:	n/a	chr5:179921255-179921268
12	YY1	chr5:179920969-179921893	ECC-1	luminal epithelium:	n/a	chr5:179921067-179921077 chr5:179921391-179921410 chr5:179921246-179921255 chr5:179921390-179921410 chr5:179921389-179921398 chr5:179921393-179921403
13	FOXP2	chr5:179921046-179921434	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr5:179921000-179922174	GM12892	blood:	n/a	n/a
15	CTCF	chr5:179921160-179921310	AG04449	skin:	n/a	n/a
16	ELF1	chr5:179921139-179921425	A549	lung:	n/a	chr5:179921385-179921397 chr5:179921350-179921359
17	TBP	chr5:179921123-179921450	HepG2	liver:	n/a	n/a
18	TEAD4	chr5:179921022-179921465	A549	lung:	n/a	n/a
19	POLR2A	chr5:179920992-179922196	A549	lung:	n/a	n/a
20	CHD1	chr5:179921022-179922477	IMR90	lung:	n/a	n/a
21	YY1	chr5:179920963-179922144	GM12878	blood:	n/a	chr5:179921997-179922011 chr5:179922000-179922009 chr5:179921067-179921077 chr5:179921998-179922009 chr5:179921391-179921410 chr5:179921246-179921255 chr5:179921390-179921410 chr5:179921994-179922003 chr5:179921997-179922006 chr5:179921995-179922006 chr5:179921389-179921398 chr5:179921994-179922008 chr5:179921393-179921403
22	TAF1	chr5:179921023-179921678	Hela-S3	cervix:	n/a	n/a
23	STAT3	chr5:179921174-179921374	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr5:179921279-179921444	GM12891	blood:	n/a	n/a
25	SIN3AK20	chr5:179921076-179921599	HepG2	liver:	n/a	n/a
26	FOXA1	chr5:179921096-179921525	ECC-1	luminal epithelium:	n/a	n/a
27	SP1	chr5:179920992-179921564	GM12878	blood:	n/a	chr5:179921320-179921341 chr5:179921245-179921257 chr5:179921246-179921255 chr5:179921247-179921256 chr5:179921245-179921257 chr5:179921246-179921256 chr5:179921247-179921256 chr5:179921245-179921256 chr5:179921242-179921256 chr5:179921246-179921256
28	TCF12	chr5:179921079-179921407	GM12878	blood:	n/a	n/a
29	GTF2F1	chr5:179921121-179921449	K562	blood:	n/a	n/a
30	GTF2F1	chr5:179921040-179921415	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr5:179921004-179922171	GM19193	blood:	n/a	n/a
32	POLR2A	chr5:179920983-179921621	GM12892	blood:	n/a	n/a
33	EP300	chr5:179921033-179921560	H1-hESC	embryonic stem cell:	n/a	chr5:179921385-179921394 chr5:179921350-179921359 chr5:179921387-179921396
34	ZNF143	chr5:179921051-179921621	GM12878	blood:	n/a	chr5:179921350-179921360
35	POLR2A	chr5:179920940-179921603	HepG2	liver:	n/a	n/a
36	STAT5A	chr5:179920977-179921455	K562	blood:	n/a	n/a
37	ZBTB33	chr5:179921040-179921423	HCT-116	colon:	n/a	n/a
38	CHD1	chr5:179920964-179921858	GM12878	blood:	n/a	n/a
39	POLR2A	chr5:179920994-179922070	GM18526	blood:	n/a	n/a
40	POLR2A	chr5:179920968-179921644	HUVEC	blood vessel:	n/a	n/a
41	NR2F2	chr5:179921030-179921356	K562	blood:	n/a	n/a
42	SP1	chr5:179921031-179921410	K562	blood:	n/a	chr5:179921320-179921341 chr5:179921245-179921257 chr5:179921246-179921255 chr5:179921247-179921256 chr5:179921245-179921257 chr5:179921246-179921256 chr5:179921247-179921256 chr5:179921245-179921256 chr5:179921242-179921256 chr5:179921246-179921256
43	FOSL2	chr5:179921007-179921429	A549	lung:	n/a	n/a
44	MAX	chr5:179920990-179921796	HepG2	liver:	n/a	n/a
45	POLR2A	chr5:179920941-179922286	K562	blood:	n/a	n/a
46	POLR2A	chr5:179920928-179921934	MCF-7	breast:	n/a	n/a
47	JUND	chr5:179921022-179921481	HepG2	liver:	n/a	n/a
48	MAX	chr5:179920950-179921687	HCT-116	colon:	n/a	n/a
49	POLR2A	chr5:179921028-179922400	H1-hESC	embryonic stem cell:	n/a	n/a
50	TAF1	chr5:179921018-179921521	PFSK-1	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:179921286-179921336	Jurkat	blood:	n/a
2	chr5:179921286-179921336	T-47D	breast:	n/a
3	chr5:179921286-179921336	HPAEpiC	pulmonary alveolar:	n/a
4	chr5:179921286-179921336	MCF-7	breast:	n/a
5	chr5:179921286-179921336	CMK	blood:	n/a
6	chr5:179921286-179921336	BJ	skin:	n/a
7	chr5:179921286-179921336	NB4	blood:	n/a
8	chr5:179921286-179921336	U87	brain:	n/a
9	chr5:179921286-179921336	HRPEpiC	eye:	n/a
10	chr5:179921286-179921336	SK-N-SH	brain:	n/a
11	chr5:179921286-179921336	MCF10A-Er-Src	breast:	n/a
12	chr5:179921286-179921336	HCM	heart:	n/a
13	chr5:179921286-179921336	GM12892	blood:	n/a
14	chr5:179921286-179921336	ProgFib	skin:	n/a
15	chr5:179921286-179921336	NT2-D1	testis:	n/a
16	chr5:179921286-179921336	ovcar-3	ovarian:	n/a
17	chr5:179921286-179921336	HRE	kidney:	n/a
18	chr5:179921286-179921336	H1-hESC	embryonic stem cell:	embryo
19	chr5:179921286-179921336	AG09309	skin:	n/a
20	chr5:179921286-179921336	HCPEpiC	choroid plexus:	n/a
21	chr5:179921286-179921336	GM19239	blood:	n/a
22	chr5:179921286-179921336	PFSK-1	brain:	n/a
23	chr5:179921286-179921336	ECC-1	luminal epithelium:	n/a
24	chr5:179921286-179921336	GM06990	blood:	n/a
25	chr5:179921286-179921336	NH-A	brain:	n/a
26	chr5:179921286-179921336	HEEpiC	esophagus:	n/a
27	chr5:179921286-179921336	GM12878	blood:	n/a
28	chr5:179921286-179921336	HMEC	breast:	n/a
29	chr5:179921286-179921336	AG04450	lung:	fetal
30	chr5:179921286-179921336	LNCaP	prostate:	n/a
31	chr5:179921286-179921336	HRCEpiC	kidney:	n/a
32	chr5:179921286-179921336	PANC-1	pancreas:	n/a
33	chr5:179921286-179921336	HUVEC	blood vessel:	n/a
34	chr5:179921286-179921336	Caco-2	colon:	n/a
35	chr5:179921286-179921336	Hepatocyte	liver:	n/a
36	chr5:179921286-179921336	HNPCEpiC	eye:	n/a
37	chr5:179921286-179921336	AoSMC	blood vessel:	n/a
38	chr5:179921286-179921336	SKMC	muscle:	n/a
39	chr5:179921286-179921336	HAEpiC	amniotic membrane:	n/a
40	chr5:179921286-179921336	NHBE	bronchial:	n/a
41	chr5:179921286-179921336	HepG2	liver:	n/a
42	chr5:179921286-179921336	HIPEpiC	eye:	n/a
43	chr5:179921286-179921336	SAEC	small airway:	n/a
44	chr5:179921286-179921336	PrEC	prostate:	n/a
45	chr5:179921286-179921336	NHDF-neo	bronchial:	n/a
46	chr5:179921286-179921336	SK-N-SH_RA	brain:	n/a
47	chr5:179921286-179921336	GM12891	blood:	n/a
48	chr5:179921286-179921336	HCT-116	colon:	n/a
49	chr5:179921286-179921336	Hela-S3	cervix:	n/a
50	chr5:179921286-179921336	SK-N-MC	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:179920260..179922999-chr5:180038598..180040134,2	MCF-7	breast:
2	chr15:40226287..40226791-chr5:179921184..179922100,2	Hela-S3	cervix:
3	chr5:179920138..179923580-chr5:179954774..179958751,3	MCF-7	breast:
4	chr5:179778332..179781251-chr5:179920436..179923318,3	MCF-7	breast:
5	chr5:179919075..179921338-chr5:180210769..180213087,2	MCF-7	breast:
6	chr5:179718755..179721306-chr5:179919977..179922949,4	MCF-7	breast:
7	chr19:47353550..47354350-chr5:179921157..179921678,2	Hela-S3	cervix:

Variant related genes	Relation type
CNOT6	TF binding region
CNOT6	CpG island
ENSG00000248367	Chromatin interaction
ENSG00000050748	Chromatin interaction
ENSG00000128829	Chromatin interaction
ENSG00000131459	Chromatin interaction
ENSG00000037280	Chromatin interaction
ENSG00000113300	Chromatin interaction
ENSG00000042753	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10059433	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10072835	1.00[AMR][1000 genomes]
rs10077152	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13357229	1.00[AMR][1000 genomes]
rs17080355	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28522110	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6872162	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7723088	1.00[AMR][1000 genomes]
rs9329113	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023914	chr5:179649883-180040672	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv537983	chr5:179649883-180040672	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1030697	chr5:179710469-180686563	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	184 gene(s)	inside rSNPs	diseases
4	nsv1026417	chr5:179721376-180291360	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv1031836	chr5:179742033-180676122	Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
6	nsv537984	chr5:179742033-180676122	Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
7	nsv949199	chr5:179743553-180696889	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
8	nsv1023537	chr5:179791679-179982822	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv537985	chr5:179791679-179982822	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv1019519	chr5:179866730-179959408	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv830564	chr5:179867394-180010096	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	esv3356496	chr5:179920371-179922919	Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179918800-179921600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:179919800-179921400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:179920200-179922200	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr5:179920400-179921600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
5	chr5:179920400-179922200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:179920400-179922200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:179920400-179922200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:179920400-179922200	Active TSS	Brain Substantia Nigra	brain
9	chr5:179920400-179922200	Active TSS	Duodenum Mucosa	Duodenum
10	chr5:179920400-179922200	Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr5:179920400-179922200	Active TSS	Stomach Smooth Muscle	stomach
12	chr5:179920400-179922400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:179920400-179922400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:179920400-179922800	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr5:179920400-179923000	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr5:179920400-179923200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:179920400-179923400	Active TSS	GM12878-XiMat	blood
18	chr5:179920600-179921600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:179920600-179921800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr5:179920600-179922000	Active TSS	Colonic Mucosa	Colon
21	chr5:179920600-179922200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:179920600-179922200	Active TSS	Primary T cells from cord blood	blood
23	chr5:179920600-179922200	Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr5:179920600-179922200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:179920600-179922200	Active TSS	Brain Cingulate Gyrus	brain
26	chr5:179920600-179922200	Active TSS	Fetal Brain Female	brain
27	chr5:179920600-179922200	Active TSS	Rectal Mucosa Donor 31	rectum
28	chr5:179920600-179922200	Active TSS	Monocytes-CD14+_RO01746	blood
29	chr5:179920600-179922400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:179920600-179922400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:179920600-179922400	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr5:179920600-179922400	Active TSS	Brain Anterior Caudate	brain
33	chr5:179920600-179922400	Active TSS	Colon Smooth Muscle	Colon
34	chr5:179920600-179922400	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr5:179920600-179922400	Active TSS	Fetal Kidney	kidney
36	chr5:179920600-179922400	Active TSS	Placenta	Placenta
37	chr5:179920600-179922400	Active TSS	Rectal Smooth Muscle	rectum
38	chr5:179920600-179922400	Active TSS	HSMMtube	muscle
39	chr5:179920600-179922400	Active TSS	NH-A	brain
40	chr5:179920600-179922600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr5:179920600-179922800	Active TSS	Right Atrium	heart
42	chr5:179920600-179923000	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr5:179920600-179923200	Active TSS	H9 Cell Line	embryonic stem cell
44	chr5:179920800-179922000	Active TSS	HepG2	liver
45	chr5:179920800-179922200	Active TSS	Primary monocytes fromperipheralblood	blood
46	chr5:179920800-179922200	Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr5:179920800-179922200	Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr5:179920800-179922200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr5:179920800-179922200	Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr5:179920800-179922200	Active TSS	Adipose Nuclei	Adipose

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