Variant report

Variant	rs575138158
Chromosome Location	chr8:61822668-61822669
allele	A/G
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	EP300	chr8:61822464-61822694	SK-N-SH_RA	brain:	n/a	n/a
2	POLR2A	chr8:61821780-61823258	GM12892	blood:	n/a	n/a
3	MEF2A	chr8:61821901-61822730	GM12878	blood:	n/a	n/a
4	BCL11A	chr8:61821961-61822740	GM12878	blood:	n/a	chr8:61822458-61822471 chr8:61822627-61822640
5	BCL3	chr8:61822420-61822802	GM12878	blood:	n/a	chr8:61822458-61822471 chr8:61822627-61822640
6	POLR2A	chr8:61821768-61823231	GM12892	blood:	n/a	n/a
7	POU2F2	chr8:61821828-61822774	GM12878	blood:	n/a	chr8:61822386-61822398
8	CHD1	chr8:61821666-61822904	GM12878	blood:	n/a	n/a
9	FOXM1	chr8:61821102-61822782	GM12878	blood:	n/a	n/a
10	BHLHE40	chr8:61821969-61823247	GM12878	blood:	n/a	chr8:61822963-61822979
11	YY1	chr8:61822444-61822848	GM12878	blood:	n/a	chr8:61822648-61822659 chr8:61822627-61822641 chr8:61822642-61822656 chr8:61822458-61822469
12	POLR2A	chr8:61822197-61822680	HUVEC	blood vessel:	n/a	n/a
13	POU2F2	chr8:61821886-61822731	GM12891	blood:	n/a	chr8:61822386-61822398
14	RELA	chr8:61821079-61822731	GM12891	blood:	n/a	n/a
15	RELA	chr8:61821146-61822670	GM19099	blood:	n/a	n/a
16	SIN3A	chr8:61822136-61823163	H1-hESC	embryonic stem cell:	n/a	chr8:61823138-61823151
17	EBF1	chr8:61822525-61822725	GM12878	blood:	n/a	n/a
18	SP1	chr8:61821858-61822777	GM12878	blood:	n/a	chr8:61822560-61822572 chr8:61822562-61822571
19	POLR2A	chr8:61821229-61823401	GM19099	blood:	n/a	n/a
20	TCF3	chr8:61822139-61823086	GM12878	blood:	n/a	n/a
21	MTA3	chr8:61821108-61823501	GM12878	blood:	n/a	n/a
22	PAX5	chr8:61821913-61822740	GM12878	blood:	n/a	chr8:61822440-61822449
23	POLR2A	chr8:61821884-61822767	GM12892	blood:	n/a	n/a
24	CTCF	chr8:61822540-61822690	GM12868	blood:	n/a	n/a
25	MAX	chr8:61821969-61823362	GM12878	blood:	n/a	n/a
26	MTA3	chr8:61821543-61822758	GM12878	blood:	n/a	n/a
27	MEF2C	chr8:61821902-61822753	GM12878	blood:	n/a	n/a
28	EBF1	chr8:61821924-61823004	GM12878	blood:	n/a	n/a
29	MAX	chr8:61821362-61823159	NB4	blood:	n/a	n/a
30	TAF1	chr8:61821867-61822739	GM12878	blood:	n/a	n/a
31	E2F6	chr8:61822339-61822770	H1-hESC	embryonic stem cell:	n/a	chr8:61822559-61822571
32	POLR2A	chr8:61821252-61823354	GM18526	blood:	n/a	n/a
33	YY1	chr8:61822002-61822739	GM12878	blood:	n/a	chr8:61822648-61822659 chr8:61822441-61822450 chr8:61822389-61822398 chr8:61822627-61822641 chr8:61822642-61822656 chr8:61822458-61822469
34	EGR1	chr8:61822294-61822705	GM12878	blood:	n/a	chr8:61822564-61822573 chr8:61822615-61822622 chr8:61822562-61822577 chr8:61822563-61822576 chr8:61822384-61822397 chr8:61822563-61822573 chr8:61822564-61822574 chr8:61822558-61822580 chr8:61822439-61822452 chr8:61822563-61822576 chr8:61822563-61822576 chr8:61822562-61822576 chr8:61822563-61822576
35	PAX5	chr8:61822000-61822754	GM12878	blood:	n/a	chr8:61822440-61822449
36	RELA	chr8:61821232-61822690	GM19193	blood:	n/a	n/a
37	CCNT2	chr8:61822471-61822824	K562	blood:	n/a	n/a
38	POLR2A	chr8:61821355-61823142	GM12892	blood:	n/a	n/a
39	POLR2A	chr8:61820812-61826736	GM12878	blood:	n/a	n/a
40	MAX	chr8:61822290-61822839	ECC-1	luminal epithelium:	n/a	n/a
41	CEBPB	chr8:61821869-61822783	GM12878	blood:	n/a	chr8:61821891-61821903
42	PAX5	chr8:61821866-61822858	GM12878	blood:	n/a	chr8:61822440-61822449
43	POLR2A	chr8:61822032-61822679	HUVEC	blood vessel:	n/a	n/a
44	BCLAF1	chr8:61821990-61823104	GM12878	blood:	n/a	chr8:61822458-61822471 chr8:61822860-61822873 chr8:61822627-61822640
45	BCLAF1	chr8:61821250-61823386	GM12878	blood:	n/a	chr8:61822458-61822471 chr8:61822860-61822873 chr8:61822627-61822640
46	FOXM1	chr8:61821814-61823271	GM12878	blood:	n/a	n/a
47	POLR2A	chr8:61821153-61823143	GM19193	blood:	n/a	n/a
48	POLR2A	chr8:61821190-61823452	GM12891	blood:	n/a	n/a
49	TBL1XR1	chr8:61821231-61823323	GM12878	blood:	n/a	n/a
50	EGR1	chr8:61822433-61822710	ECC-1	luminal epithelium:	n/a	chr8:61822564-61822573 chr8:61822615-61822622 chr8:61822562-61822577 chr8:61822563-61822576 chr8:61822563-61822573 chr8:61822564-61822574 chr8:61822558-61822580 chr8:61822439-61822452 chr8:61822563-61822576 chr8:61822563-61822576 chr8:61822562-61822576 chr8:61822563-61822576

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CLVS1-1	chr8:61822245-61822787	NONHSAT126853
2	lnc-CLVS1-1	chr8:61822612-61822787	ENSG00000254777

Variant related genes	Relation type
ENSG00000254777	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv1795586	chr8:61733174-61863906	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv429919	chr8:61771472-61979873	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv890947	chr8:61815886-61882751	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	esv3327831	chr8:61821423-61824171	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription	TF binding region CpG island lncRNA	1 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	chr8:61820800-61825400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr8:61821000-61823000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr8:61821000-61823000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr8:61821000-61823000	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr8:61821000-61823000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr8:61821000-61823200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:61821000-61823200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:61821000-61823400	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr8:61821000-61823400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr8:61821000-61826400	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr8:61821200-61822800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
12	chr8:61821200-61823200	Enhancers	Spleen	Spleen
13	chr8:61821200-61823400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr8:61821200-61823400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
15	chr8:61821200-61823800	Active TSS	Rectal Smooth Muscle	rectum
16	chr8:61821400-61823200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr8:61821400-61823200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr8:61821400-61823200	Flanking Active TSS	Brain Germinal Matrix	brain
19	chr8:61821400-61823400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr8:61821400-61823400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr8:61821400-61823400	Active TSS	Fetal Brain Female	brain
22	chr8:61821400-61823400	Flanking Active TSS	HUVEC	blood vessel
23	chr8:61821400-61826400	Enhancers	Placenta	Placenta
24	chr8:61821600-61823000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr8:61821600-61823000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:61821600-61823200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:61821600-61823200	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr8:61821600-61823400	Flanking Active TSS	HSMM	muscle
29	chr8:61821800-61822800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:61821800-61822800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
31	chr8:61821800-61823000	Bivalent/Poised TSS	Fetal Stomach	stomach
32	chr8:61821800-61823200	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr8:61821800-61823200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
34	chr8:61821800-61823400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr8:61822000-61822800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr8:61822000-61822800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr8:61822000-61822800	Active TSS	Brain Cingulate Gyrus	brain
38	chr8:61822000-61822800	Active TSS	Colon Smooth Muscle	Colon
39	chr8:61822000-61823000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr8:61822000-61823000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr8:61822000-61823000	Active TSS	Fetal Kidney	kidney
42	chr8:61822000-61823000	Active TSS	Left Ventricle	heart
43	chr8:61822000-61823200	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr8:61822000-61823200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:61822000-61823200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
46	chr8:61822000-61823200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:61822000-61823200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr8:61822000-61823200	Active TSS	Brain Angular Gyrus	brain
49	chr8:61822000-61823200	Active TSS	Small Intestine	intestine
50	chr8:61822200-61822800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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