Variant report

Variant	rs192819054
Chromosome Location	chr8:67686586-67686587
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	PML	chr8:67686567-67687714	K562	blood:	n/a	n/a
2	CTCF	chr8:67686540-67686690	HBMEC	blood vessel:	n/a	n/a
3	SRF	chr8:67686379-67688127	HCT-116	colon:	n/a	chr8:67687355-67687369 chr8:67687341-67687351 chr8:67687353-67687370 chr8:67687391-67687401
4	TEAD4	chr8:67686513-67687683	K562	blood:	n/a	n/a
5	KAP1	chr8:67686280-67688160	U2OS	brain:	n/a	n/a
6	POLR2A	chr8:67686580-67687969	Hela-S3	cervix:	n/a	n/a
7	E2F6	chr8:67686556-67688091	A549	lung:	n/a	chr8:67687679-67687694 chr8:67687450-67687460 chr8:67687414-67687424 chr8:67687410-67687419 chr8:67687640-67687649 chr8:67687395-67687405
8	GATA1	chr8:67686585-67687876	PBDE	blood:	n/a	n/a
9	POLR2A	chr8:67686544-67688169	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr8:67686520-67686670	BJ	skin:	n/a	n/a
11	MAX	chr8:67686563-67688277	A549	lung:	n/a	chr8:67687341-67687351 chr8:67687527-67687536 chr8:67687391-67687401
12	MAX	chr8:67686387-67688166	HCT-116	colon:	n/a	chr8:67687341-67687351 chr8:67687527-67687536 chr8:67687391-67687401
13	RCOR1	chr8:67686309-67688335	K562	blood:	n/a	n/a
14	BHLHE40	chr8:67686475-67687944	HepG2	liver:	n/a	chr8:67687394-67687410 chr8:67687405-67687421 chr8:67687448-67687464
15	ATF1	chr8:67686237-67687518	K562	blood:	n/a	n/a
16	JUND	chr8:67686287-67687872	K562	blood:	n/a	n/a
17	SIN3AK20	chr8:67686514-67688188	MCF-7	breast:	n/a	n/a
18	GATA2	chr8:67686313-67687348	SH-SY5Y	brain:	n/a	n/a
19	REST	chr8:67686583-67687433	H1-neurons	neurons:	n/a	chr8:67687309-67687317 chr8:67687347-67687360 chr8:67687288-67687301 chr8:67687388-67687401 chr8:67687407-67687420
20	MAZ	chr8:67686416-67687984	IMR90	lung:	n/a	chr8:67687341-67687351 chr8:67687527-67687536 chr8:67687391-67687401

No.	Distal block	Cell Line	Cell type
1	chr8:67524115..67526215-chr8:67685855..67687886,2	K562	blood:
2	chr8:67623840..67628206-chr8:67684536..67689963,10	MCF-7	breast:
3	chr8:67679426..67682850-chr8:67685212..67688509,3	MCF-7	breast:
4	chr8:67624145..67628067-chr8:67684003..67690579,11	MCF-7	breast:
5	chr14:20922332..20925092-chr8:67686115..67688747,2	MCF-7	breast:
6	chr8:67679605..67685169-chr8:67685347..67688416,6	MCF-7	breast:
7	chr8:67686161..67689126-chr8:67837035..67839189,3	MCF-7	breast:

Variant related genes	Relation type
SGK3	TF binding region
ENSG00000245910	Chromatin interaction
ENSG00000213005	Chromatin interaction
ENSG00000100823	Chromatin interaction
ENSG00000092094	Chromatin interaction
ENSG00000185697	Chromatin interaction
ENSG00000104205	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026746	chr8:67639626-67794164	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv3405382	chr8:67686223-67688771	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67683000-67686600	Enhancers	HepG2	liver
2	chr8:67685200-67686600	Enhancers	Brain Substantia Nigra	brain
3	chr8:67685400-67686600	Weak transcription	Pancreas	Pancrea
4	chr8:67685800-67686600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:67686000-67686600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:67686000-67686600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:67686000-67686800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:67686200-67686600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
9	chr8:67686200-67686600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr8:67686200-67686600	Enhancers	Primary hematopoietic stem cells	blood
11	chr8:67686200-67686600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:67686200-67686600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:67686200-67686600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:67686200-67686600	Enhancers	Adipose Nuclei	Adipose
15	chr8:67686200-67686600	Flanking Active TSS	Brain Hippocampus Middle	brain
16	chr8:67686200-67686600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:67686200-67686600	Enhancers	Fetal Intestine Small	intestine
18	chr8:67686200-67686600	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr8:67686200-67686600	Enhancers	K562	blood
20	chr8:67686200-67686600	Enhancers	NHDF-Ad	bronchial
21	chr8:67686200-67687000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:67686400-67686600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:67686400-67686600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
24	chr8:67686400-67686600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:67686400-67686600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr8:67686400-67686600	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr8:67686400-67686600	Enhancers	Primary T cells from cord blood	blood
28	chr8:67686400-67686600	Enhancers	Primary T cells fromperipheralblood	blood
29	chr8:67686400-67686600	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr8:67686400-67686600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr8:67686400-67686600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr8:67686400-67686600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr8:67686400-67686600	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr8:67686400-67686600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr8:67686400-67686600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr8:67686400-67686600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr8:67686400-67686600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr8:67686400-67686600	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr8:67686400-67686600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:67686400-67686600	Enhancers	Muscle Satellite Cultured Cells	--
41	chr8:67686400-67686600	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr8:67686400-67686600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:67686400-67686600	Enhancers	Liver	Liver
44	chr8:67686400-67686600	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr8:67686400-67686600	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr8:67686400-67686600	Enhancers	Colon Smooth Muscle	Colon
47	chr8:67686400-67686600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr8:67686400-67686600	Enhancers	Fetal Thymus	thymus
49	chr8:67686400-67686600	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr8:67686400-67686600	Flanking Active TSS	Rectal Smooth Muscle	rectum

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