Variant report

Variant	rs540398974
Chromosome Location	chr8:42995192-42995193
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	POLR2A	chr8:42995165-42996370	GM12891	blood:	n/a	n/a
2	POLR2A	chr8:42995087-42996414	MCF-7	breast:	n/a	n/a
3	POLR2A	chr8:42994996-42996702	Hela-S3	cervix:	n/a	n/a
4	MAZ	chr8:42994993-42996817	Hela-S3	cervix:	n/a	chr8:42995116-42995126 chr8:42995482-42995492
5	POLR2A	chr8:42995006-42996616	NB4	blood:	n/a	n/a
6	CHD2	chr8:42994973-42996747	Hela-S3	cervix:	n/a	chr8:42996201-42996211
7	MAX	chr8:42995172-42996004	SK-N-SH	brain:	n/a	chr8:42995482-42995492
8	POLR2A	chr8:42995184-42996142	U87	brain:	n/a	n/a
9	POLR2A	chr8:42995096-42996227	GM12891	blood:	n/a	n/a
10	POLR2A	chr8:42995192-42996045	A549	lung:	n/a	n/a
11	POLR2A	chr8:42995005-42995614	U87	brain:	n/a	n/a
12	MAX	chr8:42995023-42996820	HepG2	liver:	n/a	chr8:42995116-42995126 chr8:42995482-42995492
13	POLR2A	chr8:42994408-42998193	IMR90	lung:	n/a	n/a
14	YY1	chr8:42995092-42996746	HepG2	liver:	n/a	chr8:42995503-42995512 chr8:42996346-42996360 chr8:42995278-42995292 chr8:42996013-42996027 chr8:42995281-42995290 chr8:42996013-42996022 chr8:42995816-42995825 chr8:42995504-42995518
15	JUND	chr8:42995033-42996233	K562	blood:	n/a	chr8:42995518-42995529
16	TAF1	chr8:42995168-42996020	H1-hESC	embryonic stem cell:	n/a	n/a
17	BRCA1	chr8:42995017-42995619	Hela-S3	cervix:	n/a	n/a
18	ELF1	chr8:42994995-42996737	GM12878	blood:	n/a	chr8:42995503-42995512 chr8:42995920-42995932 chr8:42995282-42995294 chr8:42996483-42996495
19	NFIC	chr8:42994851-42995823	ECC-1	luminal epithelium:	n/a	n/a
20	TAF1	chr8:42995047-42995684	H1-neurons	neurons:	n/a	n/a
21	SMC3	chr8:42994988-42996028	Hela-S3	cervix:	n/a	chr8:42996010-42996020
22	GATA3	chr8:42994807-42995970	T-47D	breast:	n/a	chr8:42995825-42995833
23	POLR2A	chr8:42995090-42996195	ECC-1	luminal epithelium:	n/a	n/a
24	MYC	chr8:42994832-42996103	A549	lung:	n/a	chr8:42995116-42995126 chr8:42995482-42995492
25	POLR2A	chr8:42994944-42997198	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr8:42994984-42997098	H1-neurons	neurons:	n/a	n/a
27	MAX	chr8:42994942-42995998	ECC-1	luminal epithelium:	n/a	chr8:42995116-42995126 chr8:42995482-42995492
28	POLR2A	chr8:42995161-42996769	GM18951	blood:	n/a	n/a
29	POLR2A	chr8:42994595-42998416	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr8:42994837-42996796	H1-neurons	neurons:	n/a	n/a
31	POLR2A	chr8:42995113-42996459	GM12892	blood:	n/a	n/a
32	POLR2A	chr8:42995142-42995587	HepG2	liver:	n/a	n/a
33	MAX	chr8:42995183-42995894	A549	lung:	n/a	chr8:42995482-42995492
34	JUN	chr8:42994103-42996328	K562	blood:	n/a	n/a
35	CTCF	chr8:42995180-42995330	HCPEpiC	choroid plexus:	n/a	n/a
36	POLR2A	chr8:42995133-42996755	GM12878	blood:	n/a	n/a
37	EGR1	chr8:42995066-42995654	ECC-1	luminal epithelium:	n/a	chr8:42995282-42995292 chr8:42995279-42995292 chr8:42995279-42995292 chr8:42995282-42995291 chr8:42995279-42995292
38	POLR2A	chr8:42995098-42996064	HL-60	blood:	n/a	n/a
39	REST	chr8:42995147-42995715	PFSK-1	brain:	n/a	n/a
40	TCF7L2	chr8:42994994-42995490	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr8:42995174-42996147	HCT-116	colon:	n/a	n/a
42	TCF12	chr8:42994994-42996025	A549	lung:	n/a	n/a
43	E2F4	chr8:42994980-42996102	K562	blood:	n/a	chr8:42995284-42995296 chr8:42995483-42995492 chr8:42995278-42995287 chr8:42996010-42996020
44	POLR2A	chr8:42995081-42996206	HUVEC	blood vessel:	n/a	n/a
45	ZBTB7A	chr8:42995060-42995259	K562	blood:	n/a	n/a
46	NR2F2	chr8:42994901-42995466	K562	blood:	n/a	n/a
47	TAF1	chr8:42995187-42996702	HepG2	liver:	n/a	n/a
48	MAX	chr8:42995096-42996446	A549	lung:	n/a	chr8:42995116-42995126 chr8:42995482-42995492
49	POLR2A	chr8:42995180-42995496	HepG2	liver:	n/a	n/a
50	MAX	chr8:42995118-42996036	ECC-1	luminal epithelium:	n/a	chr8:42995482-42995492

No.	Distal block	Cell Line	Cell type
1	chr8:42981388..42985439-chr8:42992719..42998148,8	MCF-7	breast:
2	chr12:49658655..49659446-chr8:42995137..42996126,2	Hela-S3	cervix:
3	chr8:42946558..42950569-chr8:42993092..42998053,7	MCF-7	breast:
4	chr8:42945466..42950308-chr8:42993029..42998171,6	K562	blood:
5	chr8:42749464..42752003-chr8:42994418..42997135,2	K562	blood:
6	chr8:42947374..42951238-chr8:42993087..42998137,7	MCF-7	breast:
7	chr8:42946276..42950766-chr8:42994093..42997306,5	K562	blood:
8	chr8:42750503..42753349-chr8:42995062..42997135,2	K562	blood:

Variant related genes	Relation type
HGSNAT	TF binding region
ENSG00000266044	Chromatin interaction
ENSG00000254198	Chromatin interaction
ENSG00000168172	Chromatin interaction
ENSG00000120925	Chromatin interaction
ENSG00000167553	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	chr8:42994400-42995200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:42994400-42995200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:42994400-42995200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:42994400-42995200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr8:42994400-42995200	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr8:42994400-42995200	Flanking Active TSS	Brain Germinal Matrix	brain
12	chr8:42994400-42995200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
13	chr8:42994400-42995200	Flanking Active TSS	Fetal Stomach	stomach
14	chr8:42994400-42995200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
15	chr8:42994400-42995200	Flanking Active TSS	Rectal Smooth Muscle	rectum
16	chr8:42994400-42995200	Flanking Active TSS	K562	blood
17	chr8:42994400-42995200	Flanking Active TSS	Osteobl	bone
18	chr8:42994400-42995400	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr8:42994400-42995400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr8:42994400-42995400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:42994400-42995400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:42994400-42995400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr8:42994400-42995400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:42994400-42995400	Flanking Active TSS	Liver	Liver
25	chr8:42994400-42995400	Flanking Active TSS	Fetal Muscle Leg	muscle
26	chr8:42994400-42995400	Flanking Active TSS	Dnd41	blood
27	chr8:42994400-42995400	Flanking Active TSS	HUVEC	blood vessel
28	chr8:42994400-42995400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr8:42994400-42995400	Flanking Active TSS	NHEK	skin
30	chr8:42994400-42996200	Active TSS	H1 Cell Line	embryonic stem cell
31	chr8:42994400-42996600	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr8:42994400-42996600	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr8:42994400-42997000	Active TSS	Psoas Muscle	Psoas
34	chr8:42994400-42997000	Active TSS	Stomach Mucosa	stomach
35	chr8:42994400-42997200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr8:42994400-42997200	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr8:42994400-42997200	Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr8:42994400-42997200	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr8:42994400-42997200	Active TSS	Ovary	ovary
40	chr8:42994400-42997400	Active TSS	Fetal Intestine Small	intestine
41	chr8:42994400-42997400	Active TSS	Right Atrium	heart
42	chr8:42994400-42997400	Active TSS	Right Ventricle	heart
43	chr8:42994400-42997600	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr8:42994600-42995200	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr8:42994600-42995200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr8:42994600-42995200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr8:42994600-42995200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:42994600-42995200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
49	chr8:42994600-42995200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr8:42994600-42995200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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