Variant report

Variant	rs146367206
Chromosome Location	chr8:42994981-42994982
allele	A/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	CHD2	chr8:42994973-42996747	Hela-S3	cervix:	n/a	chr8:42996201-42996211
2	POLR2A	chr8:42994408-42998193	IMR90	lung:	n/a	n/a
3	NFIC	chr8:42994851-42995823	ECC-1	luminal epithelium:	n/a	n/a
4	GATA3	chr8:42994807-42995970	T-47D	breast:	n/a	chr8:42995825-42995833
5	MYC	chr8:42994832-42996103	A549	lung:	n/a	chr8:42995116-42995126 chr8:42995482-42995492
6	POLR2A	chr8:42994944-42997198	Hela-S3	cervix:	n/a	n/a
7	MAX	chr8:42994942-42995998	ECC-1	luminal epithelium:	n/a	chr8:42995116-42995126 chr8:42995482-42995492
8	POLR2A	chr8:42994595-42998416	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr8:42994837-42996796	H1-neurons	neurons:	n/a	n/a
10	SPI1	chr8:42994539-42995112	HL-60	blood:	n/a	n/a
11	JUN	chr8:42994103-42996328	K562	blood:	n/a	n/a
12	FOXA1	chr8:42994819-42995161	HepG2	liver:	n/a	n/a
13	E2F4	chr8:42994980-42996102	K562	blood:	n/a	chr8:42995284-42995296 chr8:42995483-42995492 chr8:42995278-42995287 chr8:42996010-42996020
14	NR2F2	chr8:42994901-42995466	K562	blood:	n/a	n/a
15	POLR2A	chr8:42994872-42997161	HepG2	liver:	n/a	n/a
16	FOXA1	chr8:42994759-42995089	HepG2	liver:	n/a	n/a
17	FOXA1	chr8:42994833-42996010	HepG2	liver:	n/a	n/a
18	FOXA1	chr8:42994765-42995195	T-47D	breast:	n/a	n/a
19	TFAP2A	chr8:42994815-42996808	Hela-S3	cervix:	n/a	chr8:42995277-42995289 chr8:42995481-42995496 chr8:42995437-42995448 chr8:42996639-42996649 chr8:42996482-42996490 chr8:42996482-42996490 chr8:42995117-42995128 chr8:42995437-42995448 chr8:42995433-42995448 chr8:42995437-42995448 chr8:42996482-42996490 chr8:42996262-42996274
20	NRF1	chr8:42994914-42995114	GM12878	blood:	n/a	n/a
21	POLR2A	chr8:42994858-42997099	H1-hESC	embryonic stem cell:	n/a	n/a
22	GATA3	chr8:42994765-42995535	T-47D	breast:	n/a	n/a
23	POLR2A	chr8:42994930-42997053	K562	blood:	n/a	n/a
24	EP300	chr8:42994835-42995666	T-47D	breast:	n/a	chr8:42995485-42995501
25	STAT5A	chr8:42994948-42995523	GM12878	blood:	n/a	n/a
26	MAX	chr8:42994875-42997207	HepG2	liver:	n/a	chr8:42995116-42995126 chr8:42995482-42995492
27	SIN3A	chr8:42994960-42997332	H1-hESC	embryonic stem cell:	n/a	chr8:42995462-42995475 chr8:42996466-42996477
28	UBTF	chr8:42994926-42996970	K562	blood:	n/a	n/a
29	CEBPB	chr8:42994856-42995118	HepG2	liver:	n/a	chr8:42994983-42994994
30	POLR2A	chr8:42994937-42995431	GM12878	blood:	n/a	n/a
31	POLR2A	chr8:42994964-42996963	Hela-S3	cervix:	n/a	n/a
32	MYC	chr8:42994976-42996061	K562	blood:	n/a	chr8:42995116-42995126 chr8:42995482-42995492
33	GTF2F1	chr8:42994920-42995483	Hela-S3	cervix:	n/a	n/a
34	HA-E2F1	chr8:42994894-42997264	MCF-7	breast:	n/a	chr8:42997013-42997030 chr8:42996740-42996755 chr8:42997013-42997030 chr8:42996349-42996358 chr8:42995284-42995296 chr8:42995483-42995492 chr8:42995278-42995287 chr8:42996010-42996020
35	MAX	chr8:42994915-42996664	NB4	blood:	n/a	chr8:42995116-42995126 chr8:42995482-42995492
36	POLR2A	chr8:42994411-42998560	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr8:42994916-42996395	PFSK-1	brain:	n/a	n/a
38	POLR2A	chr8:42994959-42995120	MCF-7	breast:	n/a	n/a
39	MAX	chr8:42994913-42997067	Hela-S3	cervix:	n/a	chr8:42995116-42995126 chr8:42995482-42995492
40	HCFC1	chr8:42994235-42997273	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr8:42994840-42994990	BJ	skin:	n/a	n/a
42	ZEB1	chr8:42994835-42995271	GM12878	blood:	n/a	n/a
43	MAZ	chr8:42994666-42997990	IMR90	lung:	n/a	chr8:42995116-42995126 chr8:42995482-42995492
44	BHLHE40	chr8:42994973-42996085	GM12878	blood:	n/a	chr8:42995275-42995291 chr8:42996016-42996032
45	TFAP2C	chr8:42994803-42996831	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr8:42994912-42996083	K562	blood:	n/a	n/a
47	MXI1	chr8:42994839-42996240	Hela-S3	cervix:	n/a	n/a
48	MXI1	chr8:42994037-42997383	IMR90	lung:	n/a	n/a
49	TBP	chr8:42994950-42996579	K562	blood:	n/a	n/a
50	FOXA2	chr8:42994794-42995578	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:42981388..42985439-chr8:42992719..42998148,8	MCF-7	breast:
2	chr8:42946558..42950569-chr8:42993092..42998053,7	MCF-7	breast:
3	chr8:42945466..42950308-chr8:42993029..42998171,6	K562	blood:
4	chr8:42749464..42752003-chr8:42994418..42997135,2	K562	blood:
5	chr8:42947374..42951238-chr8:42993087..42998137,7	MCF-7	breast:
6	chr8:42946276..42950766-chr8:42994093..42997306,5	K562	blood:

Variant related genes	Relation type
HGSNAT	TF binding region
ENSG00000266044	Chromatin interaction
ENSG00000120925	Chromatin interaction
ENSG00000254198	Chromatin interaction
ENSG00000185900	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1024688	chr8:42709414-43333639	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv539563	chr8:42709414-43333639	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1033927	chr8:42748842-43575771	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
5	nsv533812	chr8:42755447-43528350	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
6	nsv1032781	chr8:42772394-43461484	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	nsv1021281	chr8:42807619-43472678	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
8	nsv429912	chr8:42852444-43701143	ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
9	nsv869499	chr8:42858608-43541986	Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
10	nsv916847	chr8:42858611-43541984	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
11	nsv1027779	chr8:42863024-43729296	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
12	nsv1025336	chr8:42905623-43333638	ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
13	nsv539564	chr8:42905623-43333638	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
14	nsv831302	chr8:42909483-43105520	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
15	nsv1029380	chr8:42924737-43729296	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
16	nsv539565	chr8:42924737-43729296	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
17	nsv1021734	chr8:42936943-43824036	Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
18	nsv470208	chr8:42937608-43791691	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
19	nsv1021100	chr8:42938287-43333639	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
20	nsv539566	chr8:42938287-43333639	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
21	nsv1035031	chr8:42940043-43575771	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
22	nsv1031842	chr8:42940043-43729296	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
23	nsv532469	chr8:42970273-43528350	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
24	nsv1027553	chr8:42985051-43729296	Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
25	nsv1025569	chr8:42985051-43824036	Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
26	esv3359712	chr8:42994795-42996943	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42994200-42995200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr8:42994200-42995200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:42994200-42995200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:42994200-42995400	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr8:42994200-42997000	Active TSS	Colon Smooth Muscle	Colon
6	chr8:42994400-42995000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr8:42994400-42995000	Flanking Active TSS	Brain Anterior Caudate	brain
8	chr8:42994400-42995000	Flanking Active TSS	Brain Cingulate Gyrus	brain
9	chr8:42994400-42995000	Flanking Active TSS	Brain Hippocampus Middle	brain
10	chr8:42994400-42995000	Flanking Active TSS	Fetal Brain Female	brain
11	chr8:42994400-42995000	Flanking Active TSS	Fetal Heart	heart
12	chr8:42994400-42995000	Flanking Active TSS	Fetal Kidney	kidney
13	chr8:42994400-42995000	Flanking Active TSS	Fetal Lung	lung
14	chr8:42994400-42995000	Enhancers	Spleen	Spleen
15	chr8:42994400-42995000	Flanking Active TSS	A549	lung
16	chr8:42994400-42995000	Flanking Active TSS	Hela-S3	cervix
17	chr8:42994400-42995000	Flanking Active TSS	NHDF-Ad	bronchial
18	chr8:42994400-42995200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:42994400-42995200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:42994400-42995200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:42994400-42995200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr8:42994400-42995200	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr8:42994400-42995200	Flanking Active TSS	Brain Germinal Matrix	brain
24	chr8:42994400-42995200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr8:42994400-42995200	Flanking Active TSS	Fetal Stomach	stomach
26	chr8:42994400-42995200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr8:42994400-42995200	Flanking Active TSS	Rectal Smooth Muscle	rectum
28	chr8:42994400-42995200	Flanking Active TSS	K562	blood
29	chr8:42994400-42995200	Flanking Active TSS	Osteobl	bone
30	chr8:42994400-42995400	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr8:42994400-42995400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr8:42994400-42995400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:42994400-42995400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:42994400-42995400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr8:42994400-42995400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:42994400-42995400	Flanking Active TSS	Liver	Liver
37	chr8:42994400-42995400	Flanking Active TSS	Fetal Muscle Leg	muscle
38	chr8:42994400-42995400	Flanking Active TSS	Dnd41	blood
39	chr8:42994400-42995400	Flanking Active TSS	HUVEC	blood vessel
40	chr8:42994400-42995400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr8:42994400-42995400	Flanking Active TSS	NHEK	skin
42	chr8:42994400-42996200	Active TSS	H1 Cell Line	embryonic stem cell
43	chr8:42994400-42996600	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr8:42994400-42996600	Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr8:42994400-42997000	Active TSS	Psoas Muscle	Psoas
46	chr8:42994400-42997000	Active TSS	Stomach Mucosa	stomach
47	chr8:42994400-42997200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:42994400-42997200	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr8:42994400-42997200	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr8:42994400-42997200	Active TSS	Pancreatic Islets	Pancreatic Islet

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