Variant report

Variant	rs650987
Chromosome Location	chr8:103942306-103942307
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:53)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:53 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr8:103942283-103942775	GM12878	blood:	n/a	n/a
2	EP300	chr8:103942246-103942649	GM12878	blood:	n/a	n/a
3	JUN	chr8:103942294-103942337	H1-hESC	embryonic stem cell:	n/a	n/a
4	SPI1	chr8:103942094-103942761	GM12891	blood:	n/a	n/a
5	HDAC2	chr8:103942011-103942395	H1-hESC	embryonic stem cell:	n/a	n/a
6	SPI1	chr8:103941854-103943092	GM12878	blood:	n/a	n/a
7	SP1	chr8:103941918-103942441	H1-hESC	embryonic stem cell:	n/a	chr8:103942188-103942199
8	TCF12	chr8:103942071-103942428	H1-hESC	embryonic stem cell:	n/a	n/a
9	RUNX3	chr8:103942121-103942720	GM12878	blood:	n/a	n/a
10	EP300	chr8:103941806-103942553	GM12878	blood:	n/a	n/a
11	IKZF1	chr8:103941889-103942752	GM12878	blood:	n/a	n/a
12	JUND	chr8:103942160-103942326	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAZ	chr8:103941876-103942570	GM12878	blood:	n/a	n/a
14	ATF2	chr8:103942193-103942771	GM12878	blood:	n/a	n/a
15	TAF1	chr8:103942028-103942400	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr8:103942048-103942566	ECC-1	luminal epithelium:	n/a	n/a
17	SPI1	chr8:103942302-103942612	GM12878	blood:	n/a	n/a
18	SPI1	chr8:103942199-103942773	GM12891	blood:	n/a	n/a
19	EBF1	chr8:103942130-103942564	GM12878	blood:	n/a	n/a
20	ATF2	chr8:103942028-103942511	H1-hESC	embryonic stem cell:	n/a	n/a
21	TCF12	chr8:103942141-103942496	GM12878	blood:	n/a	n/a
22	ZNF143	chr8:103942160-103942416	H1-hESC	embryonic stem cell:	n/a	n/a
23	TCF12	chr8:103941948-103942676	ECC-1	luminal epithelium:	n/a	n/a
24	TCF12	chr8:103941990-103942759	ECC-1	luminal epithelium:	n/a	n/a
25	SPI1	chr8:103942296-103942707	HL-60	blood:	n/a	n/a
26	YY1	chr8:103942040-103942399	H1-hESC	embryonic stem cell:	n/a	n/a
27	SMC3	chr8:103942247-103942576	GM12878	blood:	n/a	n/a
28	MAX	chr8:103942239-103942520	GM12878	blood:	n/a	n/a
29	POLR2A	chr8:103942080-103942438	ECC-1	luminal epithelium:	n/a	n/a
30	ELF1	chr8:103942041-103942464	GM12878	blood:	n/a	n/a
31	MAX	chr8:103942025-103942554	MCF-7	breast:	n/a	n/a
32	ZEB1	chr8:103942236-103942458	GM12878	blood:	n/a	chr8:103942339-103942348
33	MXI1	chr8:103942065-103942533	H1-hESC	embryonic stem cell:	n/a	n/a
34	REST	chr8:103942286-103942606	Hela-S3	cervix:	n/a	n/a
35	ELF1	chr8:103942051-103942514	MCF-7	breast:	n/a	chr8:103942468-103942481
36	SPI1	chr8:103942120-103942781	HL-60	blood:	n/a	n/a
37	RAD21	chr8:103942078-103942313	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD2	chr8:103942096-103942462	H1-hESC	embryonic stem cell:	n/a	n/a
39	RAD21	chr8:103941915-103942522	H1-hESC	embryonic stem cell:	n/a	n/a
40	TCF3	chr8:103942110-103942433	GM12878	blood:	n/a	n/a
41	EBF1	chr8:103942180-103942576	GM12878	blood:	n/a	n/a
42	NFIC	chr8:103942053-103942598	ECC-1	luminal epithelium:	n/a	n/a
43	CHD2	chr8:103941830-103942653	GM12878	blood:	n/a	n/a
44	MTA3	chr8:103941932-103942842	GM12878	blood:	n/a	n/a
45	SPI1	chr8:103942217-103942691	GM12878	blood:	n/a	n/a
46	EBF1	chr8:103942183-103942547	GM12878	blood:	n/a	n/a
47	SP1	chr8:103941929-103942515	H1-hESC	embryonic stem cell:	n/a	chr8:103942188-103942199
48	ZEB1	chr8:103941959-103942774	GM12878	blood:	n/a	chr8:103942339-103942348
49	RAD21	chr8:103942052-103942342	H1-hESC	embryonic stem cell:	n/a	n/a
50	RFX5	chr8:103942304-103942412	GM12878	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:103941652..103943631-chr8:103947233..103949355,2	K562	blood:
2	chr8:103875189..103877224-chr8:103941864..103944592,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KB-1507C5.2.1-4	chr8:103941606-103942746	NONHSAT128133

No data

Variant related genes	Relation type
ENSG00000253320	TF binding region
ENSG00000155096	Chromatin interaction
ENSG00000253320	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1961102	0.91[ASN][1000 genomes]
rs2668877	0.85[ASN][1000 genomes]
rs3018949	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs519527	0.83[ASN][1000 genomes]
rs520393	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs522547	0.91[ASN][1000 genomes]
rs537217	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs560038	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs575651	0.85[ASN][1000 genomes]
rs587946	0.86[ASN][1000 genomes]
rs599777	0.90[ASN][1000 genomes]
rs608236	0.90[ASN][1000 genomes]
rs613049	0.91[ASN][1000 genomes]
rs613559	0.91[ASN][1000 genomes]
rs644299	0.91[ASN][1000 genomes]
rs6468844	0.84[ASN][1000 genomes]
rs651816	0.82[ASN][1000 genomes]
rs657000	0.91[ASN][1000 genomes]
rs666830	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs676498	0.81[ASN][1000 genomes]

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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv891246	chr8:103928940-103967694	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv512057	chr8:103939859-103942374	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103932200-103959400	Weak transcription	Fetal Brain Female	brain
2	chr8:103937800-103956000	Weak transcription	Brain Hippocampus Middle	brain
3	chr8:103938200-103943600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:103938200-103947200	Weak transcription	Right Atrium	heart
5	chr8:103940200-103943200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:103940200-103972600	Weak transcription	Ovary	ovary
7	chr8:103941600-103942400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:103941600-103942400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:103941600-103942400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr8:103941600-103942400	Flanking Active TSS	Liver	Liver
11	chr8:103941600-103942400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
12	chr8:103941600-103942400	Flanking Active TSS	HepG2	liver
13	chr8:103941600-103942600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr8:103941600-103942600	Enhancers	Placenta	Placenta
15	chr8:103941600-103942600	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr8:103941600-103942600	Enhancers	K562	blood
17	chr8:103941600-103942800	Enhancers	H1 Cell Line	embryonic stem cell
18	chr8:103941600-103942800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr8:103941600-103942800	Flanking Active TSS	Fetal Intestine Small	intestine
20	chr8:103941600-103942800	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr8:103941600-103942800	Enhancers	Fetal Thymus	thymus
22	chr8:103941600-103942800	Enhancers	Stomach Mucosa	stomach
23	chr8:103941600-103943000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:103941600-103943000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr8:103941600-103943400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr8:103941600-103943600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr8:103941800-103942600	Enhancers	H9 Cell Line	embryonic stem cell
28	chr8:103941800-103942600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:103941800-103942600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr8:103941800-103942600	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr8:103941800-103942800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr8:103941800-103942800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr8:103941800-103942800	Enhancers	Fetal Muscle Leg	muscle
34	chr8:103941800-103943200	Flanking Active TSS	GM12878-XiMat	blood
35	chr8:103941800-103944000	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr8:103941800-103944400	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr8:103942000-103942400	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr8:103942000-103942400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr8:103942000-103942400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:103942000-103942400	Active TSS	Fetal Kidney	kidney
41	chr8:103942000-103942600	Enhancers	Fetal Muscle Trunk	muscle
42	chr8:103942000-103942800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr8:103942000-103942800	Enhancers	Primary B cells from peripheral blood	blood
44	chr8:103942000-103942800	Enhancers	Primary T cells fromperipheralblood	blood
45	chr8:103942000-103942800	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr8:103942000-103942800	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr8:103942000-103942800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr8:103942000-103942800	Enhancers	Thymus	Thymus
49	chr8:103942000-103943000	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr8:103942000-103943000	Enhancers	Monocytes-CD14+_RO01746	blood

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