Variant report

Variant	rs6887811
Chromosome Location	chr5:179758046-179758047
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	JUND	chr5:179757883-179758399	K562	blood:	n/a	chr5:179757999-179758009 chr5:179757998-179758010 chr5:179757999-179758009 chr5:179757999-179758009 chr5:179757996-179758007 chr5:179758000-179758008 chr5:179757998-179758009 chr5:179758099-179758110
2	CREB1	chr5:179757760-179758106	A549	lung:	n/a	n/a
3	FOXA2	chr5:179757776-179758227	A549	lung:	n/a	n/a
4	CREB1	chr5:179757743-179758082	A549	lung:	n/a	n/a
5	BRCA1	chr5:179757619-179758209	Hela-S3	cervix:	n/a	n/a
6	RFX5	chr5:179757671-179758548	Hela-S3	cervix:	n/a	n/a
7	SIN3AK20	chr5:179757711-179758260	A549	lung:	n/a	n/a
8	MAFK	chr5:179757748-179758445	Hela-S3	cervix:	n/a	n/a
9	GATA3	chr5:179757566-179758362	MCF-7	breast:	n/a	chr5:179758001-179758010
10	FOSL2	chr5:179757677-179758293	A549	lung:	n/a	chr5:179757999-179758009 chr5:179757998-179758010 chr5:179757999-179758009 chr5:179757999-179758009 chr5:179757996-179758007 chr5:179758000-179758008 chr5:179758099-179758110
11	CEBPB	chr5:179757454-179758486	HCT-116	colon:	n/a	chr5:179758067-179758078 chr5:179757872-179757881 chr5:179758062-179758079 chr5:179757872-179757883 chr5:179757870-179757881 chr5:179757872-179757881 chr5:179758065-179758078 chr5:179757872-179757881 chr5:179757870-179757883 chr5:179757872-179757881 chr5:179758065-179758078 chr5:179758067-179758078
12	EP300	chr5:179757817-179758184	SK-N-SH_RA	brain:	n/a	chr5:179758002-179758015 chr5:179758066-179758080
13	NR3C1	chr5:179757609-179758224	A549	lung:	n/a	chr5:179757896-179757909 chr5:179757999-179758008
14	NR3C1	chr5:179757683-179758331	A549	lung:	n/a	chr5:179757896-179757909 chr5:179757999-179758008
15	RCOR1	chr5:179757663-179758587	Hela-S3	cervix:	n/a	n/a
16	JUN	chr5:179757683-179758244	Hela-S3	cervix:	n/a	chr5:179757999-179758009 chr5:179757998-179758010 chr5:179757999-179758009 chr5:179757999-179758009 chr5:179757996-179758007 chr5:179758000-179758008 chr5:179758099-179758110
17	CEBPB	chr5:179757632-179758218	ECC-1	luminal epithelium:	n/a	chr5:179758067-179758078 chr5:179757872-179757881 chr5:179758062-179758079 chr5:179757872-179757883 chr5:179757870-179757881 chr5:179757872-179757881 chr5:179758065-179758078 chr5:179757872-179757881 chr5:179757870-179757883 chr5:179757872-179757881 chr5:179758065-179758078 chr5:179758067-179758078
18	SP1	chr5:179757614-179758404	HCT-116	colon:	n/a	n/a
19	STAT3	chr5:179757607-179758503	Hela-S3	cervix:	n/a	chr5:179757830-179757841 chr5:179758243-179758266 chr5:179758258-179758266 chr5:179758255-179758269 chr5:179757872-179757880 chr5:179757956-179757968
20	CHD2	chr5:179757743-179758218	Hela-S3	cervix:	n/a	n/a
21	ZBTB33	chr5:179757706-179758219	A549	lung:	n/a	n/a
22	FOSL2	chr5:179757411-179759207	A549	lung:	n/a	chr5:179757999-179758009 chr5:179757998-179758010 chr5:179757999-179758009 chr5:179757999-179758009 chr5:179757996-179758007 chr5:179758000-179758008 chr5:179758416-179758425 chr5:179758099-179758110
23	CEBPB	chr5:179757659-179758741	A549	lung:	n/a	chr5:179758067-179758078 chr5:179757872-179757881 chr5:179758062-179758079 chr5:179757872-179757883 chr5:179757870-179757881 chr5:179757872-179757881 chr5:179758065-179758078 chr5:179757872-179757881 chr5:179757870-179757883 chr5:179757872-179757881 chr5:179758065-179758078 chr5:179758067-179758078
24	USF1	chr5:179757744-179758202	A549	lung:	n/a	n/a
25	POLR2A	chr5:179757596-179758259	MCF10A-Er-Src	breast:	n/a	n/a
26	TCF12	chr5:179757363-179758772	A549	lung:	n/a	n/a
27	POLR2A	chr5:179757573-179759193	U87	brain:	n/a	n/a
28	FOSL2	chr5:179757608-179758287	MCF-7	breast:	n/a	chr5:179757999-179758009 chr5:179757998-179758010 chr5:179757999-179758009 chr5:179757999-179758009 chr5:179757996-179758007 chr5:179758000-179758008 chr5:179758099-179758110
29	JUND	chr5:179757700-179758205	A549	lung:	n/a	chr5:179757999-179758009 chr5:179757998-179758010 chr5:179757999-179758009 chr5:179757999-179758009 chr5:179757996-179758007 chr5:179758000-179758008 chr5:179757998-179758009 chr5:179758099-179758110
30	POLR2A	chr5:179757967-179758262	H1-hESC	embryonic stem cell:	n/a	n/a
31	USF1	chr5:179757644-179758285	A549	lung:	n/a	n/a
32	NR3C1	chr5:179757621-179758155	A549	lung:	n/a	chr5:179757896-179757909 chr5:179757999-179758008
33	ATF3	chr5:179757614-179758313	A549	lung:	n/a	chr5:179758018-179758031
34	JUN	chr5:179757689-179758385	K562	blood:	n/a	chr5:179757999-179758009 chr5:179757998-179758010 chr5:179757999-179758009 chr5:179757999-179758009 chr5:179757996-179758007 chr5:179758000-179758008 chr5:179758099-179758110
35	POLR2A	chr5:179757706-179758169	HCT-116	colon:	n/a	n/a
36	PBX3	chr5:179757732-179758368	SK-N-SH	brain:	n/a	n/a
37	EP300	chr5:179757771-179758232	SK-N-SH_RA	brain:	n/a	chr5:179758002-179758015 chr5:179758066-179758080
38	CEBPB	chr5:179757683-179758335	MCF-7	breast:	n/a	chr5:179758067-179758078 chr5:179757872-179757881 chr5:179758062-179758079 chr5:179757872-179757883 chr5:179757870-179757881 chr5:179757872-179757881 chr5:179758065-179758078 chr5:179757872-179757881 chr5:179757870-179757883 chr5:179757872-179757881 chr5:179758065-179758078 chr5:179758067-179758078
39	CEBPB	chr5:179757537-179758306	HCT-116	colon:	n/a	chr5:179758067-179758078 chr5:179757872-179757881 chr5:179758062-179758079 chr5:179757872-179757883 chr5:179757870-179757881 chr5:179757872-179757881 chr5:179758065-179758078 chr5:179757872-179757881 chr5:179757870-179757883 chr5:179757872-179757881 chr5:179758065-179758078 chr5:179758067-179758078
40	CEBPB	chr5:179757690-179758118	HepG2	liver:	n/a	chr5:179758067-179758078 chr5:179757872-179757881 chr5:179758062-179758079 chr5:179757872-179757883 chr5:179757870-179757881 chr5:179757872-179757881 chr5:179758065-179758078 chr5:179757872-179757881 chr5:179757870-179757883 chr5:179757872-179757881 chr5:179758065-179758078 chr5:179758067-179758078
41	PBX3	chr5:179757682-179758257	A549	lung:	n/a	n/a
42	FOS	chr5:179757483-179758805	MCF10A-Er-Src	breast:	n/a	chr5:179757999-179758009 chr5:179757998-179758010 chr5:179757998-179758009 chr5:179757999-179758009 chr5:179757999-179758009 chr5:179757996-179758007 chr5:179758000-179758008 chr5:179758416-179758425 chr5:179758099-179758110
43	POLR2A	chr5:179755126-179759108	U87	brain:	n/a	n/a
44	REST	chr5:179757748-179758095	Hela-S3	cervix:	n/a	n/a
45	JUND	chr5:179757645-179758458	Hela-S3	cervix:	n/a	chr5:179757999-179758009 chr5:179757998-179758010 chr5:179757999-179758009 chr5:179757999-179758009 chr5:179757996-179758007 chr5:179758000-179758008 chr5:179757998-179758009 chr5:179758416-179758425 chr5:179758099-179758110
46	NR3C1	chr5:179757676-179758144	A549	lung:	n/a	chr5:179757896-179757909 chr5:179757999-179758008
47	JUND	chr5:179757898-179758161	HepG2	liver:	n/a	chr5:179757999-179758009 chr5:179757998-179758010 chr5:179757999-179758009 chr5:179757999-179758009 chr5:179757996-179758007 chr5:179758000-179758008 chr5:179757998-179758009 chr5:179758099-179758110
48	POLR2A	chr5:179757573-179759106	U87	brain:	n/a	n/a
49	CEBPB	chr5:179757725-179758057	HepG2	liver:	n/a	chr5:179757872-179757881 chr5:179757872-179757883 chr5:179757870-179757881 chr5:179757872-179757881 chr5:179757872-179757881 chr5:179757870-179757883 chr5:179757872-179757881
50	CEBPB	chr5:179757594-179758347	Hela-S3	cervix:	n/a	chr5:179758067-179758078 chr5:179757872-179757881 chr5:179758062-179758079 chr5:179757872-179757883 chr5:179757870-179757881 chr5:179757872-179757881 chr5:179758065-179758078 chr5:179757872-179757881 chr5:179757870-179757883 chr5:179757872-179757881 chr5:179758065-179758078 chr5:179758067-179758078

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:179758012-179758062	HCF	heart:	n/a
2	chr5:179758012-179758062	AG10803	skin:	n/a
3	chr5:179758012-179758062	SAEC	small airway:	n/a
4	chr5:179758012-179758062	BJ	skin:	n/a
5	chr5:179758012-179758062	GM12891	blood:	n/a
6	chr5:179758012-179758062	Hepatocyte	liver:	n/a
7	chr5:179758012-179758062	HCT-116	colon:	n/a
8	chr5:179758012-179758062	U87	brain:	n/a
9	chr5:179758012-179758062	A549	lung:	n/a
10	chr5:179758012-179758062	HAEpiC	amniotic membrane:	n/a
11	chr5:179758012-179758062	ECC-1	luminal epithelium:	n/a
12	chr5:179758012-179758062	HEK293	kidney:	embryo
13	chr5:179758012-179758062	K562	blood:	n/a
14	chr5:179758012-179758062	ovcar-3	ovarian:	n/a
15	chr5:179758012-179758062	AG09319	gingival:	n/a
16	chr5:179758012-179758062	NHDF-neo	bronchial:	n/a
17	chr5:179758012-179758062	Caco-2	colon:	n/a
18	chr5:179758012-179758062	GM12878	blood:	n/a
19	chr5:179758012-179758062	AG04450	lung:	fetal
20	chr5:179758012-179758062	T-47D	breast:	n/a
21	chr5:179758012-179758062	HRCEpiC	kidney:	n/a
22	chr5:179758012-179758062	PFSK-1	brain:	n/a
23	chr5:179758012-179758062	H1-hESC	embryonic stem cell:	embryo
24	chr5:179758012-179758062	HRPEpiC	eye:	n/a
25	chr5:179758012-179758062	HIPEpiC	eye:	n/a
26	chr5:179758012-179758062	PrEC	prostate:	n/a
27	chr5:179758012-179758062	LNCaP	prostate:	n/a
28	chr5:179758012-179758062	HCM	heart:	n/a
29	chr5:179758012-179758062	HRE	kidney:	n/a
30	chr5:179758012-179758062	SK-N-SH	brain:	n/a
31	chr5:179758012-179758062	HepG2	liver:	n/a
32	chr5:179758012-179758062	Hela-S3	cervix:	n/a
33	chr5:179758012-179758062	HL-60	blood:	n/a
34	chr5:179758012-179758062	ProgFib	skin:	n/a
35	chr5:179758012-179758062	NB4	blood:	n/a
36	chr5:179758012-179758062	GM19239	blood:	n/a
37	chr5:179758012-179758062	NH-A	brain:	n/a
38	chr5:179758012-179758062	HNPCEpiC	eye:	n/a
39	chr5:179758012-179758062	SK-N-SH_RA	brain:	n/a
40	chr5:179758012-179758062	GM06990	blood:	n/a
41	chr5:179758012-179758062	GM12892	blood:	n/a
42	chr5:179758012-179758062	CMK	blood:	n/a
43	chr5:179758012-179758062	BE2_C	brain:	n/a
44	chr5:179758012-179758062	PANC-1	pancreas:	n/a
45	chr5:179758012-179758062	NHBE	bronchial:	n/a
46	chr5:179758012-179758062	HMEC	breast:	n/a
47	chr5:179758012-179758062	AoSMC	blood vessel:	n/a
48	chr5:179758012-179758062	Jurkat	blood:	n/a
49	chr5:179758012-179758062	NT2-D1	testis:	n/a
50	chr5:179758012-179758062	SK-N-MC	brain:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:179717698..179720150-chr5:179758033..179760822,3	MCF-7	breast:
2	chr5:179718232..179719781-chr5:179756949..179759059,2	MCF-7	breast:

Variant related genes	Relation type
GFPT2	TF binding region
GFPT2	CpG island
ENSG00000050748	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs6887820	1.00[AMR][1000 genomes]
rs73813212	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	nsv948909	chr5:179249099-179772640	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv1033706	chr5:179402769-179806356	Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv883290	chr5:179712060-179818868	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv830563	chr5:179717693-179898609	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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
12	nsv883291	chr5:179755559-179818868	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179720600-179758400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:179728600-179761400	Weak transcription	Aorta	Aorta
3	chr5:179739600-179761200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr5:179741600-179762600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr5:179741800-179758200	Weak transcription	Fetal Intestine Small	intestine
6	chr5:179743200-179761000	Weak transcription	Right Ventricle	heart
7	chr5:179743400-179758200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr5:179744000-179766600	Weak transcription	Gastric	stomach
9	chr5:179746000-179760800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:179746000-179761400	Weak transcription	Right Atrium	heart
11	chr5:179752200-179759000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr5:179752400-179758800	Weak transcription	Left Ventricle	heart
13	chr5:179752400-179760800	Weak transcription	Brain Germinal Matrix	brain
14	chr5:179752400-179760800	Weak transcription	Brain Substantia Nigra	brain
15	chr5:179752600-179758800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr5:179754000-179758200	Strong transcription	Fetal Stomach	stomach
17	chr5:179754000-179758800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:179754200-179758800	Strong transcription	Fetal Muscle Trunk	muscle
19	chr5:179754400-179758200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:179754400-179758800	Strong transcription	Fetal Muscle Leg	muscle
21	chr5:179754600-179758200	Strong transcription	Brain Inferior Temporal Lobe	brain
22	chr5:179754800-179758200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:179755000-179759800	Enhancers	Placenta	Placenta
24	chr5:179755200-179758800	Strong transcription	Brain Anterior Caudate	brain
25	chr5:179755800-179758600	Weak transcription	Pancreas	Pancrea
26	chr5:179755800-179760800	Weak transcription	Lung	lung
27	chr5:179756000-179760800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:179756200-179761000	Weak transcription	Brain Hippocampus Middle	brain
29	chr5:179756200-179761600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:179756400-179760600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr5:179756800-179758800	Strong transcription	Brain Cingulate Gyrus	brain
32	chr5:179756800-179759200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr5:179757000-179759000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr5:179757000-179759200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:179757000-179761000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr5:179757000-179779000	Weak transcription	Esophagus	oesophagus
37	chr5:179757200-179759000	Enhancers	Adipose Nuclei	Adipose
38	chr5:179757200-179759000	Enhancers	HSMM	muscle
39	chr5:179757200-179761000	Weak transcription	Fetal Brain Female	brain
40	chr5:179757400-179758200	Genic enhancers	HUES6 Cell Line	embryonic stem cell
41	chr5:179757400-179758200	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr5:179757400-179758400	Genic enhancers	HUES64 Cell Line	embryonic stem cell
43	chr5:179757400-179759000	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr5:179757400-179759000	Enhancers	Fetal Lung	lung
45	chr5:179757400-179759000	Flanking Active TSS	Hela-S3	cervix
46	chr5:179757400-179759000	Enhancers	HSMMtube	muscle
47	chr5:179757400-179759200	Enhancers	HUVEC	blood vessel
48	chr5:179757400-179759600	Genic enhancers	H1 Cell Line	embryonic stem cell
49	chr5:179757400-179759600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr5:179757400-179759600	Enhancers	Ovary	ovary

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