Variant report

Variant	rs557713771
Chromosome Location	chr8:131029242-131029243
allele	C/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	chr8:131027177-131029352	GM19193	blood:	n/a	n/a
2	MAX	chr8:131027358-131029430	K562	blood:	n/a	chr8:131028178-131028188 chr8:131027515-131027525 chr8:131028529-131028539 chr8:131028275-131028285
3	ZEB1	chr8:131029161-131029498	GM12878	blood:	n/a	chr8:131029259-131029266
4	STAT5A	chr8:131028975-131029481	GM12878	blood:	n/a	n/a
5	POLR2A	chr8:131027995-131029267	GM15510	blood:	n/a	n/a
6	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
7	SIN3A	chr8:131028483-131029443	H1-hESC	embryonic stem cell:	n/a	n/a
8	FOXP2	chr8:131028550-131029314	PFSK-1	brain:	n/a	n/a
9	RAD21	chr8:131029084-131029310	Hela-S3	cervix:	n/a	n/a
10	GTF2F1	chr8:131029152-131029267	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr8:131027724-131029484	Hela-S3	cervix:	n/a	n/a
12	MAX	chr8:131028531-131029256	Hela-S3	cervix:	n/a	n/a
13	CHD2	chr8:131027950-131029258	Hela-S3	cervix:	n/a	chr8:131028910-131028920 chr8:131028822-131028832
14	CTBP2	chr8:131028567-131029709	H1-hESC	embryonic stem cell:	n/a	n/a
15	JUND	chr8:131028706-131029342	H1-hESC	embryonic stem cell:	n/a	n/a
16	ELF1	chr8:131028385-131029257	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
17	TCF12	chr8:131028503-131029553	A549	lung:	n/a	n/a
18	TCF12	chr8:131028411-131029488	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr8:131028414-131029327	K562	blood:	n/a	n/a
20	HA-E2F1	chr8:131028125-131029242	Hela-S3	cervix:	n/a	chr8:131029009-131029018 chr8:131028682-131028692 chr8:131028738-131028748 chr8:131028679-131028689
21	POLR2A	chr8:131027388-131029702	GM19099	blood:	n/a	n/a
22	GTF3C2	chr8:131028824-131029378	Hela-S3	cervix:	n/a	n/a
23	MAZ	chr8:131026867-131029533	IMR90	lung:	n/a	chr8:131028178-131028188 chr8:131028529-131028539 chr8:131028275-131028285
24	MAZ	chr8:131027379-131029251	Hela-S3	cervix:	n/a	chr8:131028178-131028188 chr8:131028529-131028539 chr8:131028275-131028285
25	POLR2A	chr8:131027440-131029396	K562	blood:	n/a	n/a
26	CREB1	chr8:131028515-131029342	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr8:131027640-131029391	GM18526	blood:	n/a	n/a
28	POLR2A	chr8:131028667-131029535	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr8:131027549-131029555	GM18505	blood:	n/a	n/a
30	POLR2A	chr8:131028023-131029286	GM18951	blood:	n/a	n/a
31	REST	chr8:131027304-131029903	H1-neurons	neurons:	n/a	chr8:131028523-131028533 chr8:131028841-131028848 chr8:131028909-131028922 chr8:131028494-131028507 chr8:131029329-131029342
32	TAF1	chr8:131028374-131029316	K562	blood:	n/a	n/a
33	ESRRA	chr8:131026854-131029480	GM12878	blood:	n/a	chr8:131029066-131029076 chr8:131029062-131029078 chr8:131029066-131029078
34	TBP	chr8:131028592-131029422	H1-hESC	embryonic stem cell:	n/a	chr8:131028806-131028817
35	CREB1	chr8:131028453-131029439	HepG2	liver:	n/a	n/a
36	RAD21	chr8:131029100-131029466	H1-hESC	embryonic stem cell:	n/a	n/a
37	SMARCB1	chr8:131027389-131029563	Hela-S3	cervix:	n/a	n/a
38	MAZ	chr8:131027019-131029421	K562	blood:	n/a	chr8:131028178-131028188 chr8:131028529-131028539 chr8:131028275-131028285
39	HA-E2F1	chr8:131027706-131029424	MCF-7	breast:	n/a	chr8:131029009-131029018 chr8:131028682-131028692 chr8:131028738-131028748 chr8:131028679-131028689
40	POLR2A	chr8:131027444-131029515	GM12892	blood:	n/a	n/a
41	POLR2A	chr8:131028045-131029393	A549	lung:	n/a	n/a
42	POLR2A	chr8:131028447-131029412	HCT-116	colon:	n/a	n/a
43	MTA3	chr8:131029003-131029401	GM12878	blood:	n/a	n/a
44	E2F1	chr8:131028174-131029265	Hela-S3	cervix:	n/a	chr8:131029009-131029018 chr8:131028682-131028692 chr8:131028738-131028748 chr8:131028679-131028689
45	POLR2A	chr8:131027261-131029255	K562	blood:	n/a	n/a
46	UBTF	chr8:131029123-131029418	K562	blood:	n/a	n/a
47	ZKSCAN1	chr8:131028728-131029591	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr8:131029120-131029270	GM12865	blood:	n/a	n/a
49	CHD2	chr8:131029059-131029416	K562	blood:	n/a	n/a
50	POLR2A	chr8:131028434-131029341	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	chr8:130981588..130985969-chr8:131027661..131030801,4	K562	blood:
3	chr8:130949943..130953390-chr8:131026093..131029581,5	K562	blood:
4	chr8:130950508..130954142-chr8:131027064..131029855,6	MCF-7	breast:
5	chr8:130981588..130985969-chr8:131024671..131030870,8	K562	blood:

Variant related genes	Relation type
FAM49B	TF binding region
ENSG00000153310	Chromatin interaction
ENSG00000253720	Chromatin interaction
ENSG00000264653	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:120 , 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	chr8:131027200-131029400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:131027200-131029400	Active TSS	Psoas Muscle	Psoas
6	chr8:131027200-131029400	Active TSS	Rectal Smooth Muscle	rectum
7	chr8:131027400-131029400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr8:131027400-131029400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:131027400-131029400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:131027600-131029400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:131027600-131029400	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr8:131027600-131029400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:131027600-131029400	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr8:131027600-131029400	Active TSS	NHDF-Ad	bronchial
15	chr8:131027600-131029600	Active TSS	H9 Cell Line	embryonic stem cell
16	chr8:131027600-131029600	Active TSS	Brain Substantia Nigra	brain
17	chr8:131027800-131029400	Active TSS	Fetal Brain Female	brain
18	chr8:131027800-131029400	Active TSS	Gastric	stomach
19	chr8:131028000-131029400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:131028000-131029400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:131028000-131029400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:131028000-131029400	Active TSS	Right Atrium	heart
23	chr8:131028000-131029400	Active TSS	HSMM	muscle
24	chr8:131028000-131029400	Active TSS	HSMMtube	muscle
25	chr8:131028000-131029400	Active TSS	Osteobl	bone
26	chr8:131028000-131029600	Active TSS	Brain Angular Gyrus	brain
27	chr8:131028000-131029600	Active TSS	Fetal Intestine Large	intestine
28	chr8:131028200-131029400	Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr8:131028200-131029400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr8:131028200-131029400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:131028200-131029400	Active TSS	Rectal Mucosa Donor 31	rectum
32	chr8:131028200-131029600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr8:131028200-131030000	Active TSS	Primary hematopoietic stem cells	blood
34	chr8:131029000-131029400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:131029000-131029400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:131029000-131029400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr8:131029000-131029400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr8:131029000-131029400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
39	chr8:131029000-131029400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr8:131029000-131029400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr8:131029000-131029400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr8:131029000-131029400	Flanking Active TSS	Liver	Liver
43	chr8:131029000-131029400	Flanking Active TSS	Esophagus	oesophagus
44	chr8:131029000-131029400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
45	chr8:131029000-131029400	Flanking Active TSS	Placenta	Placenta
46	chr8:131029000-131029400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
47	chr8:131029000-131029400	Enhancers	Spleen	Spleen
48	chr8:131029000-131029400	Flanking Active TSS	HUVEC	blood vessel
49	chr8:131029000-131029400	Flanking Active TSS	NH-A	brain
50	chr8:131029000-131029600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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