Variant report

Variant	rs2972766
Chromosome Location	chr5:42811862-42811863
allele	G/T
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	POLR2A	chr5:42811821-42812059	Hela-S3	cervix:	n/a	n/a
2	MAFF	chr5:42811849-42812625	HepG2	liver:	n/a	chr5:42812316-42812334
3	NFIC	chr5:42810738-42812636	HepG2	liver:	n/a	n/a
4	ZMIZ1	chr5:42811833-42812356	K562	blood:	n/a	n/a
5	POLR2A	chr5:42811829-42812103	H1-hESC	embryonic stem cell:	n/a	n/a
6	ESRRA	chr5:42811426-42813042	GM12878	blood:	n/a	chr5:42812084-42812094 chr5:42812074-42812092
7	EP300	chr5:42811722-42812595	HepG2	liver:	n/a	chr5:42812360-42812374 chr5:42812353-42812367 chr5:42812358-42812372 chr5:42812382-42812396 chr5:42812354-42812368
8	HEY1	chr5:42810042-42812656	HepG2	liver:	n/a	n/a
9	CEBPB	chr5:42811859-42812192	HepG2	liver:	n/a	chr5:42811885-42811896
10	FOXA2	chr5:42811861-42812277	A549	lung:	n/a	n/a
11	CHD1	chr5:42811822-42812398	H1-hESC	embryonic stem cell:	n/a	n/a
12	SMC3	chr5:42811554-42812893	HepG2	liver:	n/a	n/a
13	HEY1	chr5:42810707-42812193	HepG2	liver:	n/a	n/a
14	TCF7L2	chr5:42811855-42812353	HepG2	liver:	n/a	n/a
15	REST	chr5:42811835-42812154	HepG2	liver:	n/a	n/a
16	POLR2A	chr5:42811803-42812134	HepG2	liver:	n/a	n/a
17	REST	chr5:42811102-42812422	HepG2	liver:	n/a	chr5:42811432-42811452 chr5:42811433-42811451 chr5:42811694-42811712
18	BHLHE40	chr5:42811828-42812581	HepG2	liver:	n/a	n/a
19	TBP	chr5:42811823-42812491	K562	blood:	n/a	n/a
20	MAFK	chr5:42811597-42812574	HepG2	liver:	n/a	chr5:42812321-42812337 chr5:42812322-42812336 chr5:42812318-42812333 chr5:42812319-42812339
21	HDAC2	chr5:42811844-42812300	HepG2	liver:	n/a	n/a
22	FOXA1	chr5:42811862-42812534	T-47D	breast:	n/a	chr5:42812263-42812278
23	JUND	chr5:42811858-42813067	HepG2	liver:	n/a	chr5:42812894-42812903
24	MXI1	chr5:42811464-42812486	HepG2	liver:	n/a	n/a
25	FOXA1	chr5:42811726-42812671	HepG2	liver:	n/a	chr5:42812263-42812278
26	POLR2A	chr5:42811781-42812142	MCF-7	breast:	n/a	n/a
27	POLR2A	chr5:42811569-42812625	SK-N-MC	brain:	n/a	n/a
28	FOXA1	chr5:42811692-42812618	HepG2	liver:	n/a	chr5:42812263-42812278
29	GTF2B	chr5:42811835-42812044	K562	blood:	n/a	n/a
30	POLR2A	chr5:42811669-42812276	H1-hESC	embryonic stem cell:	n/a	n/a
31	HEY1	chr5:42811840-42812068	K562	blood:	n/a	n/a
32	CEBPD	chr5:42811794-42812113	HepG2	liver:	n/a	n/a
33	POLR2A	chr5:42811630-42812416	H1-hESC	embryonic stem cell:	n/a	n/a
34	HNF4G	chr5:42811760-42812386	HepG2	liver:	n/a	chr5:42812056-42812068 chr5:42812062-42812076 chr5:42812055-42812069 chr5:42812055-42812068 chr5:42812056-42812069 chr5:42812056-42812068 chr5:42812053-42812071 chr5:42812055-42812070 chr5:42812055-42812070 chr5:42812055-42812070 chr5:42812056-42812064 chr5:42812056-42812068 chr5:42812055-42812069 chr5:42812062-42812075 chr5:42812055-42812070
35	RXRA	chr5:42811851-42812480	HepG2	liver:	n/a	chr5:42812060-42812069 chr5:42812061-42812077 chr5:42812054-42812070 chr5:42812441-42812450 chr5:42812059-42812079
36	POLR2A	chr5:42811720-42812135	K562	blood:	n/a	n/a
37	GATA3	chr5:42811799-42812284	T-47D	breast:	n/a	chr5:42812115-42812131
38	SIN3AK20	chr5:42811844-42812179	HepG2	liver:	n/a	n/a
39	MAZ	chr5:42811623-42812325	HepG2	liver:	n/a	n/a
40	MBD4	chr5:42810705-42812670	HepG2	liver:	n/a	n/a
41	EP300	chr5:42811834-42812497	K562	blood:	n/a	chr5:42812360-42812374 chr5:42812353-42812367 chr5:42812358-42812372 chr5:42812382-42812396 chr5:42812354-42812368
42	POLR2A	chr5:42811847-42812153	H1-hESC	embryonic stem cell:	n/a	n/a
43	MAX	chr5:42811690-42812515	HepG2	liver:	n/a	n/a
44	ARID3A	chr5:42811658-42812667	HepG2	liver:	n/a	n/a
45	FOSL2	chr5:42811860-42812274	HepG2	liver:	n/a	n/a
46	HCFC1	chr5:42811459-42812453	K562	blood:	n/a	n/a
47	FOXA2	chr5:42811420-42812691	HepG2	liver:	n/a	n/a
48	GTF2F1	chr5:42811842-42812403	H1-hESC	embryonic stem cell:	n/a	n/a
49	MAFK	chr5:42811834-42812752	GM12878	blood:	n/a	chr5:42812321-42812337 chr5:42812322-42812336 chr5:42812318-42812333 chr5:42812319-42812339
50	RAD21	chr5:42811775-42812306	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:42804005..42807710-chr5:42809581..42813463,4	K562	blood:
2	chr5:42804005..42807994-chr5:42809581..42813463,4	K562	blood:
3	chr5:42808126..42809697-chr5:42810037..42813024,2	K562	blood:

Variant related genes	Relation type
SEPP1	TF binding region
ENSG00000272234	Chromatin interaction
ENSG00000250722	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs189124	1.00[YRI][hapmap]
rs230817	1.00[YRI][hapmap]
rs230818	1.00[YRI][hapmap]
rs2910867	1.00[YRI][hapmap]
rs2910876	1.00[YRI][hapmap]
rs2972778	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv1031160	chr5:42610090-42843255	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1019696	chr5:42610090-42844191	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv597886	chr5:42610409-42854408	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1029933	chr5:42611976-42833385	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv537735	chr5:42611976-42833385	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
9	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
10	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
11	nsv523033	chr5:42752037-42919685	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	nsv965602	chr5:42767568-42889585	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
14	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
15	nsv534185	chr5:42804840-43067088	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	165 gene(s)	inside rSNPs	diseases
16	nsv1018276	chr5:42809131-42975245	Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42789600-42813400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:42799600-42812000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:42807600-42812600	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr5:42807800-42812800	Active TSS	Right Atrium	heart
5	chr5:42808000-42812600	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr5:42808200-42812200	Active TSS	Duodenum Mucosa	Duodenum
7	chr5:42808200-42812600	Active TSS	Colonic Mucosa	Colon
8	chr5:42808400-42812400	Active TSS	Brain Cingulate Gyrus	brain
9	chr5:42808400-42812400	Active TSS	Brain Substantia Nigra	brain
10	chr5:42808400-42812400	Active TSS	Placenta	Placenta
11	chr5:42808400-42812600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:42808400-42812600	Active TSS	Ovary	ovary
13	chr5:42808400-42812600	Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr5:42808600-42812400	Active TSS	Liver	Liver
15	chr5:42808600-42812400	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr5:42808600-42812600	Active TSS	Psoas Muscle	Psoas
17	chr5:42808800-42812200	Active TSS	Colon Smooth Muscle	Colon
18	chr5:42809000-42812400	Active TSS	Fetal Intestine Small	intestine
19	chr5:42809000-42812400	Active TSS	Right Ventricle	heart
20	chr5:42809200-42812600	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr5:42809200-42812600	Active TSS	Stomach Smooth Muscle	stomach
22	chr5:42809400-42812400	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr5:42809400-42812600	Active TSS	Fetal Stomach	stomach
24	chr5:42809400-42812800	Active TSS	Brain Angular Gyrus	brain
25	chr5:42809600-42812000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:42809600-42812400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:42809600-42812400	Active TSS	Fetal Muscle Leg	muscle
28	chr5:42809600-42812400	Active TSS	Rectal Smooth Muscle	rectum
29	chr5:42809600-42812400	Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr5:42809600-42812800	Active TSS	Brain Anterior Caudate	brain
31	chr5:42809600-42812800	Active TSS	Brain Hippocampus Middle	brain
32	chr5:42809800-42812000	Active TSS	Fetal Lung	lung
33	chr5:42809800-42812200	Active TSS	Adipose Nuclei	Adipose
34	chr5:42809800-42812400	Active TSS	Fetal Intestine Large	intestine
35	chr5:42810000-42812000	Active TSS	Fetal Kidney	kidney
36	chr5:42810200-42812600	Active TSS	Brain Germinal Matrix	brain
37	chr5:42810200-42812600	Active TSS	NHDF-Ad	bronchial
38	chr5:42810400-42812200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr5:42810400-42812600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:42810600-42812200	Active TSS	Aorta	Aorta
41	chr5:42810600-42812200	Active TSS	Left Ventricle	heart
42	chr5:42810600-42812200	Active TSS	NHLF	lung
43	chr5:42810600-42812400	Active TSS	Fetal Muscle Trunk	muscle
44	chr5:42810800-42812000	Active TSS	Stomach Mucosa	stomach
45	chr5:42810800-42812000	Active TSS	Osteobl	bone
46	chr5:42810800-42812200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr5:42810800-42812200	ZNF genes & repeats	Fetal Brain Male	brain
48	chr5:42811000-42812000	Active TSS	H1 Cell Line	embryonic stem cell
49	chr5:42811000-42812000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr5:42811000-42812000	Active TSS	Fetal Heart	heart

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