Variant report

Variant	rs535655609
Chromosome Location	chr8:131029175-131029176
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	chr8:131027415-131029177	GM12878	blood:	n/a	n/a
2	POLR2A	chr8:131027177-131029352	GM19193	blood:	n/a	n/a
3	MAX	chr8:131027358-131029430	K562	blood:	n/a	chr8:131028178-131028188 chr8:131027515-131027525 chr8:131028529-131028539 chr8:131028275-131028285
4	ZEB1	chr8:131029161-131029498	GM12878	blood:	n/a	chr8:131029259-131029266
5	STAT5A	chr8:131028975-131029481	GM12878	blood:	n/a	n/a
6	E2F6	chr8:131027201-131029175	K562	blood:	n/a	chr8:131029009-131029018 chr8:131028682-131028692 chr8:131028738-131028748 chr8:131028679-131028689
7	POLR2A	chr8:131027995-131029267	GM15510	blood:	n/a	n/a
8	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
9	SIN3A	chr8:131028483-131029443	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr8:131027057-131029207	K562	blood:	n/a	chr8:131028178-131028188 chr8:131027515-131027525 chr8:131028529-131028539 chr8:131028275-131028285
11	POLR2A	chr8:131027835-131029230	K562	blood:	n/a	n/a
12	FOXP2	chr8:131028550-131029314	PFSK-1	brain:	n/a	n/a
13	RAD21	chr8:131029084-131029310	Hela-S3	cervix:	n/a	n/a
14	GTF2F1	chr8:131029152-131029267	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr8:131027724-131029484	Hela-S3	cervix:	n/a	n/a
16	MAX	chr8:131028531-131029256	Hela-S3	cervix:	n/a	n/a
17	CHD2	chr8:131027950-131029258	Hela-S3	cervix:	n/a	chr8:131028910-131028920 chr8:131028822-131028832
18	CTBP2	chr8:131028567-131029709	H1-hESC	embryonic stem cell:	n/a	n/a
19	CCNT2	chr8:131027381-131029199	K562	blood:	n/a	n/a
20	CHD1	chr8:131029104-131029241	GM12878	blood:	n/a	n/a
21	JUND	chr8:131028706-131029342	H1-hESC	embryonic stem cell:	n/a	n/a
22	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
23	TCF12	chr8:131028503-131029553	A549	lung:	n/a	n/a
24	TCF12	chr8:131028411-131029488	ECC-1	luminal epithelium:	n/a	n/a
25	POLR2A	chr8:131028414-131029327	K562	blood:	n/a	n/a
26	HA-E2F1	chr8:131028125-131029242	Hela-S3	cervix:	n/a	chr8:131029009-131029018 chr8:131028682-131028692 chr8:131028738-131028748 chr8:131028679-131028689
27	POLR2A	chr8:131027388-131029702	GM19099	blood:	n/a	n/a
28	FOXA2	chr8:131028510-131029202	A549	lung:	n/a	n/a
29	GTF3C2	chr8:131028824-131029378	Hela-S3	cervix:	n/a	n/a
30	MAZ	chr8:131026867-131029533	IMR90	lung:	n/a	chr8:131028178-131028188 chr8:131028529-131028539 chr8:131028275-131028285
31	MAZ	chr8:131027379-131029251	Hela-S3	cervix:	n/a	chr8:131028178-131028188 chr8:131028529-131028539 chr8:131028275-131028285
32	POLR2A	chr8:131027440-131029396	K562	blood:	n/a	n/a
33	CREB1	chr8:131028515-131029342	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr8:131027640-131029391	GM18526	blood:	n/a	n/a
35	POLR2A	chr8:131028667-131029535	Hela-S3	cervix:	n/a	n/a
36	YY1	chr8:131028556-131029225	GM12892	blood:	n/a	chr8:131028679-131028693 chr8:131028681-131028690 chr8:131028684-131028693 chr8:131028681-131028692 chr8:131028676-131028690
37	POLR2A	chr8:131027549-131029555	GM18505	blood:	n/a	n/a
38	POLR2A	chr8:131028513-131029190	GM12878	blood:	n/a	n/a
39	POLR2A	chr8:131028023-131029286	GM18951	blood:	n/a	n/a
40	REST	chr8:131027304-131029903	H1-neurons	neurons:	n/a	chr8:131028523-131028533 chr8:131028841-131028848 chr8:131028909-131028922 chr8:131028494-131028507 chr8:131029329-131029342
41	TAF1	chr8:131028374-131029316	K562	blood:	n/a	n/a
42	ESRRA	chr8:131026854-131029480	GM12878	blood:	n/a	chr8:131029066-131029076 chr8:131029062-131029078 chr8:131029066-131029078
43	TBP	chr8:131028592-131029422	H1-hESC	embryonic stem cell:	n/a	chr8:131028806-131028817
44	CREB1	chr8:131028453-131029439	HepG2	liver:	n/a	n/a
45	RAD21	chr8:131029100-131029466	H1-hESC	embryonic stem cell:	n/a	n/a
46	SMARCB1	chr8:131027389-131029563	Hela-S3	cervix:	n/a	n/a
47	MAZ	chr8:131027019-131029421	K562	blood:	n/a	chr8:131028178-131028188 chr8:131028529-131028539 chr8:131028275-131028285
48	HA-E2F1	chr8:131027706-131029424	MCF-7	breast:	n/a	chr8:131029009-131029018 chr8:131028682-131028692 chr8:131028738-131028748 chr8:131028679-131028689
49	POLR2A	chr8:131027444-131029515	GM12892	blood:	n/a	n/a
50	POLR2A	chr8:131028045-131029393	A549	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:131029139-131029189	Hela-S3	cervix:	n/a
2	chr8:131029139-131029189	PANC-1	pancreas:	n/a
3	chr8:131029139-131029189	CMK	blood:	n/a
4	chr8:131029139-131029189	Jurkat	blood:	n/a
5	chr8:131029139-131029189	GM12892	blood:	n/a
6	chr8:131029139-131029189	SKMC	muscle:	n/a
7	chr8:131029139-131029189	NH-A	brain:	n/a
8	chr8:131029139-131029189	HCF	heart:	n/a
9	chr8:131029139-131029189	HMEC	breast:	n/a
10	chr8:131029139-131029189	GM19239	blood:	n/a
11	chr8:131029139-131029189	SK-N-SH_RA	brain:	n/a
12	chr8:131029139-131029189	HRE	kidney:	n/a
13	chr8:131029139-131029189	Caco-2	colon:	n/a
14	chr8:131029139-131029189	HEK293	kidney:	embryo
15	chr8:131029139-131029189	ProgFib	skin:	n/a
16	chr8:131029139-131029189	GM12891	blood:	n/a
17	chr8:131029139-131029189	HIPEpiC	eye:	n/a
18	chr8:131029139-131029189	PrEC	prostate:	n/a
19	chr8:131029139-131029189	HCPEpiC	choroid plexus:	n/a
20	chr8:131029139-131029189	AG09319	gingival:	n/a
21	chr8:131029139-131029189	RPTEC	kidney:	n/a
22	chr8:131029139-131029189	LNCaP	prostate:	n/a
23	chr8:131029139-131029189	HepG2	liver:	n/a
24	chr8:131029139-131029189	BE2_C	brain:	n/a
25	chr8:131029139-131029189	SK-N-SH	brain:	n/a
26	chr8:131029139-131029189	MCF10A-Er-Src	breast:	n/a
27	chr8:131029139-131029189	MCF-7	breast:	n/a
28	chr8:131029139-131029189	A549	lung:	n/a
29	chr8:131029139-131029189	SK-N-MC	brain:	n/a
30	chr8:131029139-131029189	SAEC	small airway:	n/a
31	chr8:131029139-131029189	ovcar-3	ovarian:	n/a
32	chr8:131029139-131029189	IMR90	lung:	fetal
33	chr8:131029139-131029189	GM12878	blood:	n/a
34	chr8:131029139-131029189	HAEpiC	amniotic membrane:	n/a
35	chr8:131029139-131029189	NB4	blood:	n/a
36	chr8:131029139-131029189	HNPCEpiC	eye:	n/a
37	chr8:131029139-131029189	GM06990	blood:	n/a
38	chr8:131029139-131029189	PFSK-1	brain:	n/a
39	chr8:131029139-131029189	HCT-116	colon:	n/a
40	chr8:131029139-131029189	H1-hESC	embryonic stem cell:	embryo
41	chr8:131029139-131029189	NHDF-neo	bronchial:	n/a
42	chr8:131029139-131029189	NT2-D1	testis:	n/a
43	chr8:131029139-131029189	NHBE	bronchial:	n/a
44	chr8:131029139-131029189	HUVEC	blood vessel:	n/a
45	chr8:131029139-131029189	T-47D	breast:	n/a
46	chr8:131029139-131029189	ECC-1	luminal epithelium:	n/a
47	chr8:131029139-131029189	HRPEpiC	eye:	n/a
48	chr8:131029139-131029189	AG10803	skin:	n/a
49	chr8:131029139-131029189	AG09309	skin:	n/a
50	chr8:131029139-131029189	HL-60	blood:	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
FAM49B	CpG island
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:124 , 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	chr8:131027200-131029200	Active TSS	Right Ventricle	heart
5	chr8:131027200-131029400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:131027200-131029400	Active TSS	Psoas Muscle	Psoas
7	chr8:131027200-131029400	Active TSS	Rectal Smooth Muscle	rectum
8	chr8:131027400-131029400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr8:131027400-131029400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:131027400-131029400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:131027600-131029200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:131027600-131029200	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr8:131027600-131029200	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr8:131027600-131029200	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr8:131027600-131029200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:131027600-131029200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:131027600-131029200	Active TSS	Aorta	Aorta
18	chr8:131027600-131029200	Active TSS	Brain Cingulate Gyrus	brain
19	chr8:131027600-131029200	Active TSS	Small Intestine	intestine
20	chr8:131027600-131029200	Active TSS	NHLF	lung
21	chr8:131027600-131029400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr8:131027600-131029400	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr8:131027600-131029400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:131027600-131029400	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr8:131027600-131029400	Active TSS	NHDF-Ad	bronchial
26	chr8:131027600-131029600	Active TSS	H9 Cell Line	embryonic stem cell
27	chr8:131027600-131029600	Active TSS	Brain Substantia Nigra	brain
28	chr8:131027800-131029200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr8:131027800-131029200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr8:131027800-131029200	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr8:131027800-131029200	Active TSS	Left Ventricle	heart
32	chr8:131027800-131029200	Active TSS	Placenta Amnion	Placenta Amnion
33	chr8:131027800-131029400	Active TSS	Fetal Brain Female	brain
34	chr8:131027800-131029400	Active TSS	Gastric	stomach
35	chr8:131028000-131029200	Active TSS	H1 Cell Line	embryonic stem cell
36	chr8:131028000-131029200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:131028000-131029200	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr8:131028000-131029200	Active TSS	Primary T cells from cord blood	blood
39	chr8:131028000-131029200	Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr8:131028000-131029200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr8:131028000-131029200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr8:131028000-131029200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr8:131028000-131029200	Active TSS	Muscle Satellite Cultured Cells	--
44	chr8:131028000-131029200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:131028000-131029200	Active TSS	Colon Smooth Muscle	Colon
46	chr8:131028000-131029200	Active TSS	Duodenum Mucosa	Duodenum
47	chr8:131028000-131029200	Active TSS	Fetal Intestine Small	intestine
48	chr8:131028000-131029200	Active TSS	Ovary	ovary
49	chr8:131028000-131029200	Active TSS	Pancreas	Pancrea
50	chr8:131028000-131029200	Active TSS	Rectal Mucosa Donor 29	rectum

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