Variant report

Variant	rs532994164
Chromosome Location	chr8:124780115-124780116
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	CHD1	chr8:124779752-124781938	IMR90	lung:	n/a	chr8:124781253-124781260 chr8:124780882-124780892 chr8:124780584-124780594
2	MAX	chr8:124779871-124781007	A549	lung:	n/a	n/a
3	GABPA	chr8:124780054-124781218	A549	lung:	n/a	chr8:124780539-124780548
4	SRF	chr8:124780064-124781335	MCF-7	breast:	n/a	chr8:124780632-124780642
5	MAX	chr8:124779918-124781751	MCF-7	breast:	n/a	n/a
6	ELF1	chr8:124779969-124780900	K562	blood:	n/a	n/a
7	ELF1	chr8:124779969-124781329	GM12878	blood:	n/a	n/a
8	MAX	chr8:124779917-124780299	A549	lung:	n/a	n/a
9	POLR2A	chr8:124779955-124781057	PFSK-1	brain:	n/a	n/a
10	NR2F2	chr8:124780092-124780970	K562	blood:	n/a	n/a
11	POLR2A	chr8:124779994-124781281	PFSK-1	brain:	n/a	n/a
12	POLR2A	chr8:124779741-124781597	SK-N-MC	brain:	n/a	n/a
13	POLR2A	chr8:124780048-124782037	HepG2	liver:	n/a	n/a
14	WRNIP1	chr8:124780077-124780178	GM12878	blood:	n/a	n/a
15	SIN3AK20	chr8:124779852-124781647	MCF-7	breast:	n/a	n/a
16	SRF	chr8:124780039-124781590	MCF-7	breast:	n/a	chr8:124780632-124780642
17	HCFC1	chr8:124779788-124781757	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr8:124779809-124782026	MCF10A-Er-Src	breast:	n/a	n/a
19	SIN3AK20	chr8:124780053-124781978	MCF-7	breast:	n/a	n/a
20	MAZ	chr8:124779748-124781592	IMR90	lung:	n/a	n/a
21	GABPA	chr8:124779762-124781610	MCF-7	breast:	n/a	chr8:124780539-124780548
22	CREB1	chr8:124779961-124780954	HepG2	liver:	n/a	n/a
23	MXI1	chr8:124779917-124781406	IMR90	lung:	n/a	n/a
24	MXI1	chr8:124780096-124781254	HepG2	liver:	n/a	n/a
25	MAX	chr8:124779970-124781330	HepG2	liver:	n/a	n/a
26	POLR2A	chr8:124779982-124781053	HepG2	liver:	n/a	n/a
27	TAF1	chr8:124779830-124781212	MCF-7	breast:	n/a	n/a
28	POLR2A	chr8:124780047-124780931	H1-neurons	neurons:	n/a	n/a
29	POLR2A	chr8:124780088-124781658	MCF10A-Er-Src	breast:	n/a	n/a
30	ELF1	chr8:124779846-124781124	MCF-7	breast:	n/a	n/a
31	RAD21	chr8:124780092-124780185	H1-hESC	embryonic stem cell:	n/a	n/a
32	ELF1	chr8:124780107-124780458	K562	blood:	n/a	n/a
33	ELF1	chr8:124779907-124781606	MCF-7	breast:	n/a	n/a
34	HDAC2	chr8:124779764-124781436	MCF-7	breast:	n/a	chr8:124780536-124780545
35	REST	chr8:124779990-124781141	H1-neurons	neurons:	n/a	chr8:124780211-124780229 chr8:124781097-124781107 chr8:124780586-124780599
36	SIN3A	chr8:124779907-124781466	H1-hESC	embryonic stem cell:	n/a	chr8:124780588-124780599
37	POLR2A	chr8:124780105-124781431	H1-hESC	embryonic stem cell:	n/a	n/a
38	GABPA	chr8:124779883-124781704	MCF-7	breast:	n/a	chr8:124780539-124780548
39	CREB1	chr8:124779947-124781290	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:124779119..124781941-chr8:125550806..125552574,2	MCF-7	breast:
2	chr8:124778149..124780691-chr9:110801897..110804862,2	MCF-7	breast:
3	chr8:124429815..124432313-chr8:124778028..124780178,2	K562	blood:
4	chr8:124778654..124780611-chr8:124799801..124801881,2	MCF-7	breast:
5	chr8:124630464..124632605-chr8:124778589..124780623,2	MCF-7	breast:
6	chr8:124748655..124751535-chr8:124779405..124781112,2	MCF-7	breast:
7	chr7:143208372..143211221-chr8:124779157..124780732,2	MCF-7	breast:
8	chr8:124428663..124430757-chr8:124778757..124780951,2	K562	blood:
9	chr20:49341430..49342089-chr8:124780067..124780584,2	HCT-116	colon:

Variant related genes	Relation type
FAM91A1	TF binding region
ENSG00000147684	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000213557	Chromatin interaction
ENSG00000104537	Chromatin interaction
ENSG00000156795	Chromatin interaction
ENSG00000176510	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831451	chr8:124710946-124885148	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	23 gene(s)	inside rSNPs	diseases
2	nsv6373	chr8:124741567-124786609	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
3	esv3411799	chr8:124779296-124782144	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124779600-124781400	Active TSS	Fetal Lung	lung
2	chr8:124779800-124780200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr8:124779800-124780200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr8:124779800-124780200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr8:124779800-124780200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr8:124779800-124780200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr8:124779800-124780200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr8:124779800-124780200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr8:124779800-124780200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
10	chr8:124779800-124780200	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr8:124779800-124780200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:124779800-124780200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:124779800-124780200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:124779800-124780200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:124779800-124780200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:124779800-124780200	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr8:124779800-124780200	Flanking Active TSS	Brain Hippocampus Middle	brain
18	chr8:124779800-124780200	Flanking Active TSS	Brain Substantia Nigra	brain
19	chr8:124779800-124780200	Flanking Active TSS	Fetal Intestine Small	intestine
20	chr8:124779800-124780200	Flanking Active TSS	Fetal Stomach	stomach
21	chr8:124779800-124780200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
22	chr8:124779800-124780200	Flanking Active TSS	Rectal Smooth Muscle	rectum
23	chr8:124779800-124780200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr8:124779800-124780200	Flanking Active TSS	Stomach Mucosa	stomach
25	chr8:124779800-124780200	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr8:124779800-124780200	Flanking Bivalent TSS/Enh	Dnd41	blood
27	chr8:124779800-124780200	Flanking Active TSS	Hela-S3	cervix
28	chr8:124779800-124780200	Flanking Active TSS	HMEC	breast
29	chr8:124779800-124780200	Flanking Active TSS	HUVEC	blood vessel
30	chr8:124779800-124780200	Flanking Active TSS	NH-A	brain
31	chr8:124779800-124780200	Flanking Active TSS	NHEK	skin
32	chr8:124779800-124780200	Flanking Active TSS	Osteobl	bone
33	chr8:124779800-124780400	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr8:124779800-124780400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr8:124779800-124780400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr8:124779800-124780400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:124779800-124780400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr8:124779800-124780400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr8:124779800-124780400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr8:124779800-124780400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr8:124779800-124780600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr8:124779800-124781200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:124779800-124781200	Active TSS	Primary T cells from cord blood	blood
44	chr8:124779800-124781200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr8:124779800-124781200	Active TSS	Brain Germinal Matrix	brain
46	chr8:124779800-124781200	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr8:124779800-124781400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:124779800-124781400	Active TSS	Brain Angular Gyrus	brain
49	chr8:124779800-124781400	Active TSS	Brain Anterior Caudate	brain
50	chr8:124779800-124781400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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