Variant report

Variant	rs547447931
Chromosome Location	chr8:131028864-131028865
allele	C/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	POLR2A	chr8:131027415-131029177	GM12878	blood:	n/a	n/a
2	POLR2A	chr8:131027177-131029352	GM19193	blood:	n/a	n/a
3	SPI1	chr8:131028619-131029110	HL-60	blood:	n/a	chr8:131028831-131028844 chr8:131028835-131028842 chr8:131028834-131028843
4	POLR2A	chr8:131027970-131029030	K562	blood:	n/a	n/a
5	RAD21	chr8:131028659-131028944	SK-N-SH_RA	brain:	n/a	n/a
6	MAX	chr8:131027358-131029430	K562	blood:	n/a	chr8:131028178-131028188 chr8:131027515-131027525 chr8:131028529-131028539 chr8:131028275-131028285
7	MAX	chr8:131028595-131028946	K562	blood:	n/a	n/a
8	POLR2A	chr8:131028639-131028933	GM12892	blood:	n/a	n/a
9	ZC3H11A	chr8:131028781-131028905	K562	blood:	n/a	n/a
10	NANOG	chr8:131028386-131028973	H1-hESC	embryonic stem cell:	n/a	n/a
11	GABPA	chr8:131028418-131028945	K562	blood:	n/a	chr8:131028917-131028926 chr8:131028528-131028537
12	SRF	chr8:131028550-131029122	MCF-7	breast:	n/a	chr8:131028801-131028819
13	E2F6	chr8:131027201-131029175	K562	blood:	n/a	chr8:131029009-131029018 chr8:131028682-131028692 chr8:131028738-131028748 chr8:131028679-131028689
14	POLR2A	chr8:131028541-131029014	MCF10A-Er-Src	breast:	n/a	n/a
15	CHD2	chr8:131028511-131028919	GM12878	blood:	n/a	chr8:131028822-131028832
16	POLR2A	chr8:131028625-131028957	HUVEC	blood vessel:	n/a	n/a
17	TBL1XR1	chr8:131028704-131028877	GM12878	blood:	n/a	n/a
18	CREB1	chr8:131028557-131029007	GM12878	blood:	n/a	n/a
19	E2F4	chr8:131028736-131028913	MCF10A-Er-Src	breast:	n/a	chr8:131028738-131028748
20	POLR2A	chr8:131027995-131029267	GM15510	blood:	n/a	n/a
21	ELF1	chr8:131028440-131029507	MCF-7	breast:	n/a	chr8:131028832-131028843 chr8:131028693-131028704 chr8:131028684-131028693 chr8:131028692-131028705 chr8:131028680-131028692 chr8:131028693-131028704 chr8:131028681-131028690
22	ELF1	chr8:131028480-131028974	MCF-7	breast:	n/a	chr8:131028832-131028843 chr8:131028693-131028704 chr8:131028684-131028693 chr8:131028692-131028705 chr8:131028680-131028692 chr8:131028693-131028704 chr8:131028681-131028690
23	FOXA1	chr8:131028665-131028952	HepG2	liver:	n/a	n/a
24	MYC	chr8:131028629-131028892	MCF10A-Er-Src	breast:	n/a	n/a
25	SIN3A	chr8:131028483-131029443	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAX	chr8:131027057-131029207	K562	blood:	n/a	chr8:131028178-131028188 chr8:131027515-131027525 chr8:131028529-131028539 chr8:131028275-131028285
27	ZEB1	chr8:131028456-131028958	GM12878	blood:	n/a	n/a
28	SPI1	chr8:131028629-131028950	GM12891	blood:	n/a	chr8:131028831-131028844 chr8:131028835-131028842 chr8:131028834-131028843
29	BHLHE40	chr8:131028648-131028895	GM12878	blood:	n/a	chr8:131028677-131028693 chr8:131028666-131028682 chr8:131028674-131028690
30	SPI1	chr8:131028692-131028912	K562	blood:	n/a	chr8:131028831-131028844 chr8:131028835-131028842 chr8:131028834-131028843
31	POLR2A	chr8:131027474-131029125	H1-neurons	neurons:	n/a	n/a
32	POLR2A	chr8:131028441-131029171	A549	lung:	n/a	n/a
33	ELF1	chr8:131028465-131028942	K562	blood:	n/a	chr8:131028832-131028843 chr8:131028693-131028704 chr8:131028684-131028693 chr8:131028692-131028705 chr8:131028680-131028692 chr8:131028693-131028704 chr8:131028681-131028690
34	POLR2A	chr8:131028162-131029118	HUVEC	blood vessel:	n/a	n/a
35	ELF1	chr8:131028602-131028912	A549	lung:	n/a	chr8:131028832-131028843 chr8:131028693-131028704 chr8:131028684-131028693 chr8:131028692-131028705 chr8:131028680-131028692 chr8:131028693-131028704 chr8:131028681-131028690
36	POLR2A	chr8:131027835-131029230	K562	blood:	n/a	n/a
37	EBF1	chr8:131028612-131028910	GM12878	blood:	n/a	n/a
38	ELF1	chr8:131028622-131028959	A549	lung:	n/a	chr8:131028832-131028843 chr8:131028693-131028704 chr8:131028684-131028693 chr8:131028692-131028705 chr8:131028680-131028692 chr8:131028693-131028704 chr8:131028681-131028690
39	FOXA1	chr8:131028612-131029017	T-47D	breast:	n/a	n/a
40	FOXA2	chr8:131028573-131029051	A549	lung:	n/a	n/a
41	SRF	chr8:131028590-131028977	ECC-1	luminal epithelium:	n/a	chr8:131028801-131028819
42	GATA3	chr8:131028592-131029008	T-47D	breast:	n/a	n/a
43	MAX	chr8:131028549-131029003	SK-N-SH	brain:	n/a	n/a
44	FOXP2	chr8:131028550-131029314	PFSK-1	brain:	n/a	n/a
45	EP300	chr8:131028690-131028903	K562	blood:	n/a	n/a
46	ELF1	chr8:131028409-131029058	GM12878	blood:	n/a	chr8:131028832-131028843 chr8:131028693-131028704 chr8:131028684-131028693 chr8:131028692-131028705 chr8:131028680-131028692 chr8:131028693-131028704 chr8:131028681-131028690
47	MAX	chr8:131028493-131028999	ECC-1	luminal epithelium:	n/a	chr8:131028529-131028539
48	POLR2A	chr8:131027724-131029484	Hela-S3	cervix:	n/a	n/a
49	MAX	chr8:131028531-131029256	Hela-S3	cervix:	n/a	n/a
50	ZMIZ1	chr8:131028597-131028913	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:131019270..131022496-chr8:131027575..131029857,4	MCF-7	breast:
2	chr8:130950293..130952850-chr8:131027033..131029151,3	MCF-7	breast:
3	chr8:130951528..130952250-chr8:131028470..131029127,2	MCF-7	breast:
4	chr8:130981588..130985969-chr8:131027661..131030801,4	K562	blood:
5	chr8:130949293..130953390-chr8:131026261..131028875,4	K562	blood:
6	chr8:130949943..130953390-chr8:131026093..131029581,5	K562	blood:
7	chr8:131018416..131020834-chr8:131027208..131028989,2	MCF-7	breast:
8	chr8:130950508..130954142-chr8:131027064..131029855,6	MCF-7	breast:
9	chr8:130981588..130985969-chr8:131024671..131030870,8	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GSDMC-5	chr8:131028853-131028898	NONHSAT129141

Variant related genes	Relation type
FAM49B	TF binding region
ENSG00000253720	Chromatin interaction
ENSG00000264653	Chromatin interaction
ENSG00000153310	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats 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 miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1021229	chr8:130887132-131057897	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv465808	chr8:130963259-131118658	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv612232	chr8:130963259-131118658	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv465809	chr8:131005345-131031827	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv612233	chr8:131005345-131031827	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
10	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
11	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
12	esv3358282	chr8:131027595-131030143	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	esv3389294	chr8:131027670-131029918	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131026800-131029600	Active TSS	Brain Anterior Caudate	brain
2	chr8:131027000-131029600	Active TSS	Brain Hippocampus Middle	brain
3	chr8:131027000-131029600	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr8:131027200-131029000	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr8:131027200-131029200	Active TSS	Right Ventricle	heart
6	chr8:131027200-131029400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr8:131027200-131029400	Active TSS	Psoas Muscle	Psoas
8	chr8:131027200-131029400	Active TSS	Rectal Smooth Muscle	rectum
9	chr8:131027400-131029000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:131027400-131029400	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr8:131027400-131029400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:131027400-131029400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:131027600-131029200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:131027600-131029200	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr8:131027600-131029200	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr8:131027600-131029200	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr8:131027600-131029200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:131027600-131029200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:131027600-131029200	Active TSS	Aorta	Aorta
20	chr8:131027600-131029200	Active TSS	Brain Cingulate Gyrus	brain
21	chr8:131027600-131029200	Active TSS	Small Intestine	intestine
22	chr8:131027600-131029200	Active TSS	NHLF	lung
23	chr8:131027600-131029400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr8:131027600-131029400	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr8:131027600-131029400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:131027600-131029400	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr8:131027600-131029400	Active TSS	NHDF-Ad	bronchial
28	chr8:131027600-131029600	Active TSS	H9 Cell Line	embryonic stem cell
29	chr8:131027600-131029600	Active TSS	Brain Substantia Nigra	brain
30	chr8:131027800-131029000	Active TSS	Lung	lung
31	chr8:131027800-131029200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr8:131027800-131029200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr8:131027800-131029200	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr8:131027800-131029200	Active TSS	Left Ventricle	heart
35	chr8:131027800-131029200	Active TSS	Placenta Amnion	Placenta Amnion
36	chr8:131027800-131029400	Active TSS	Fetal Brain Female	brain
37	chr8:131027800-131029400	Active TSS	Gastric	stomach
38	chr8:131028000-131029000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr8:131028000-131029000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:131028000-131029000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr8:131028000-131029000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr8:131028000-131029000	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr8:131028000-131029000	Active TSS	Primary monocytes fromperipheralblood	blood
44	chr8:131028000-131029000	Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr8:131028000-131029000	Active TSS	Primary B cells from peripheral blood	blood
46	chr8:131028000-131029000	Active TSS	Primary T cells fromperipheralblood	blood
47	chr8:131028000-131029000	Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr8:131028000-131029000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr8:131028000-131029000	Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr8:131028000-131029000	Active TSS	Primary T helper cells fromperipheralblood	blood

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