Variant report

Variant	rs551144805
Chromosome Location	chr8:67686655-67686656
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	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	NRF1	chr8:67686600-67688000	SK-N-SH	brain:	n/a	chr8:67687410-67687419 chr8:67687640-67687649
5	TEAD4	chr8:67686513-67687683	K562	blood:	n/a	n/a
6	MAZ	chr8:67686650-67688094	K562	blood:	n/a	chr8:67687341-67687351 chr8:67687527-67687536 chr8:67687391-67687401
7	KAP1	chr8:67686280-67688160	U2OS	brain:	n/a	n/a
8	TAL1	chr8:67686634-67686951	K562	blood:	n/a	n/a
9	POLR2A	chr8:67686580-67687969	Hela-S3	cervix:	n/a	n/a
10	ZMIZ1	chr8:67686646-67686898	K562	blood:	n/a	n/a
11	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
12	POLR2A	chr8:67686653-67688043	HepG2	liver:	n/a	n/a
13	RCOR1	chr8:67686594-67686766	Hela-S3	cervix:	n/a	n/a
14	GATA1	chr8:67686585-67687876	PBDE	blood:	n/a	n/a
15	POLR2A	chr8:67686544-67688169	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr8:67686591-67688153	HCT-116	colon:	n/a	chr8:67687341-67687351 chr8:67687527-67687536 chr8:67687391-67687401
17	CTCF	chr8:67686520-67686670	BJ	skin:	n/a	n/a
18	MAX	chr8:67686563-67688277	A549	lung:	n/a	chr8:67687341-67687351 chr8:67687527-67687536 chr8:67687391-67687401
19	MAX	chr8:67686387-67688166	HCT-116	colon:	n/a	chr8:67687341-67687351 chr8:67687527-67687536 chr8:67687391-67687401
20	MAX	chr8:67686601-67688366	HepG2	liver:	n/a	chr8:67687341-67687351 chr8:67687527-67687536 chr8:67687391-67687401
21	RCOR1	chr8:67686309-67688335	K562	blood:	n/a	n/a
22	MAX	chr8:67686611-67687921	K562	blood:	n/a	chr8:67687341-67687351 chr8:67687527-67687536 chr8:67687391-67687401
23	BHLHE40	chr8:67686475-67687944	HepG2	liver:	n/a	chr8:67687394-67687410 chr8:67687405-67687421 chr8:67687448-67687464
24	ATF1	chr8:67686237-67687518	K562	blood:	n/a	n/a
25	JUND	chr8:67686287-67687872	K562	blood:	n/a	n/a
26	SIN3AK20	chr8:67686514-67688188	MCF-7	breast:	n/a	n/a
27	GATA2	chr8:67686313-67687348	SH-SY5Y	brain:	n/a	n/a
28	CBX3	chr8:67686619-67687218	K562	blood:	n/a	n/a
29	CREB1	chr8:67686624-67687835	H1-hESC	embryonic stem cell:	n/a	chr8:67687029-67687042
30	REST	chr8:67686583-67687433	H1-neurons	neurons:	n/a	chr8:67687309-67687317 chr8:67687347-67687360 chr8:67687288-67687301 chr8:67687388-67687401 chr8:67687407-67687420
31	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
ENSG00000100823	Chromatin interaction
ENSG00000104205	Chromatin interaction
ENSG00000245910	Chromatin interaction
ENSG00000092094	Chromatin interaction
ENSG00000213005	Chromatin interaction
ENSG00000185697	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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67686000-67686800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:67686200-67687000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:67686400-67686800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
4	chr8:67686400-67686800	Enhancers	Primary B cells from peripheral blood	blood
5	chr8:67686400-67686800	Flanking Active TSS	Brain Angular Gyrus	brain
6	chr8:67686400-67686800	Flanking Active TSS	Brain Cingulate Gyrus	brain
7	chr8:67686400-67686800	Flanking Active TSS	A549	lung
8	chr8:67686400-67686800	Flanking Active TSS	HUVEC	blood vessel
9	chr8:67686400-67687000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:67686400-67687000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr8:67686400-67687000	Flanking Active TSS	Hela-S3	cervix
12	chr8:67686400-67687200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:67686400-67687200	Active TSS	Fetal Brain Female	brain
14	chr8:67686400-67687200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr8:67686400-67687400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr8:67686400-67688000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:67686400-67688000	Active TSS	Brain Germinal Matrix	brain
18	chr8:67686400-67688000	Active TSS	Osteobl	bone
19	chr8:67686400-67688200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:67686400-67688400	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr8:67686400-67688400	Active TSS	Colonic Mucosa	Colon
22	chr8:67686400-67688400	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr8:67686400-67688400	Active TSS	Right Atrium	heart
24	chr8:67686400-67688600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
25	chr8:67686400-67688600	Active TSS	Stomach Smooth Muscle	stomach
26	chr8:67686400-67688800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
27	chr8:67686400-67689200	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr8:67686600-67686800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
29	chr8:67686600-67686800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:67686600-67686800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:67686600-67686800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:67686600-67686800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
33	chr8:67686600-67686800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr8:67686600-67686800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr8:67686600-67686800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
36	chr8:67686600-67686800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr8:67686600-67686800	Flanking Active TSS	Colon Smooth Muscle	Colon
38	chr8:67686600-67686800	Flanking Active TSS	Fetal Intestine Large	intestine
39	chr8:67686600-67686800	Flanking Active TSS	Fetal Intestine Small	intestine
40	chr8:67686600-67686800	Flanking Bivalent TSS/Enh	Fetal Lung	lung
41	chr8:67686600-67686800	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
42	chr8:67686600-67686800	Flanking Active TSS	Pancreas	Pancrea
43	chr8:67686600-67686800	Flanking Active TSS	Thymus	Thymus
44	chr8:67686600-67686800	Enhancers	Dnd41	blood
45	chr8:67686600-67686800	Flanking Active TSS	HepG2	liver
46	chr8:67686600-67687000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr8:67686600-67687000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:67686600-67687000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:67686600-67687000	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr8:67686600-67687000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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