Variant report

Variant	rs583374
Chromosome Location	chr8:103135337-103135338
allele	G/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	BCLAF1	chr8:103135048-103135878	GM12878	blood:	n/a	chr8:103135167-103135176 chr8:103135574-103135587
2	IKZF1	chr8:103135231-103135863	GM12878	blood:	n/a	n/a
3	RELA	chr8:103135139-103136191	GM18951	blood:	n/a	n/a
4	MTA3	chr8:103134908-103136455	GM12878	blood:	n/a	n/a
5	ATF2	chr8:103135237-103135742	GM12878	blood:	n/a	n/a
6	POLR2A	chr8:103134988-103137449	GM19193	blood:	n/a	n/a
7	POLR2A	chr8:103134915-103137498	GM18951	blood:	n/a	n/a
8	RUNX3	chr8:103135002-103136241	GM12878	blood:	n/a	n/a
9	MAZ	chr8:103135138-103136383	GM12878	blood:	n/a	chr8:103135967-103135976 chr8:103136145-103136154
10	RELA	chr8:103135068-103135845	GM19099	blood:	n/a	n/a
11	MXI1	chr8:103134701-103135587	GM12878	blood:	n/a	n/a
12	RAD21	chr8:103135265-103135545	GM12878	blood:	n/a	n/a
13	POLR2A	chr8:103134822-103136017	GM12878	blood:	n/a	n/a
14	POLR2A	chr8:103135064-103136521	GM12878	blood:	n/a	n/a
15	EBF1	chr8:103135124-103135650	GM12878	blood:	n/a	n/a
16	PML	chr8:103135138-103135929	GM12878	blood:	n/a	n/a
17	EP300	chr8:103135076-103135901	GM12878	blood:	n/a	chr8:103135689-103135703 chr8:103135690-103135704
18	MTA3	chr8:103134997-103135900	GM12878	blood:	n/a	n/a
19	TBP	chr8:103134595-103135926	GM12878	blood:	n/a	n/a
20	CTCF	chr8:103135103-103136786	A549	lung:	n/a	chr8:103136108-103136126 chr8:103136109-103136125 chr8:103136538-103136551
21	SMC3	chr8:103135102-103136300	GM12878	blood:	n/a	n/a
22	NFIC	chr8:103134916-103135962	GM12878	blood:	n/a	chr8:103135043-103135059
23	CHD1	chr8:103134788-103136381	GM12878	blood:	n/a	chr8:103135931-103135938
24	FOXM1	chr8:103135227-103136087	GM12878	blood:	n/a	n/a
25	FOXM1	chr8:103135096-103135673	GM12878	blood:	n/a	n/a
26	POLR2A	chr8:103135288-103135930	GM12891	blood:	n/a	n/a
27	CHD2	chr8:103134860-103136283	GM12878	blood:	n/a	chr8:103135931-103135938
28	POLR2A	chr8:103135291-103135644	GM12891	blood:	n/a	n/a
29	RAD21	chr8:103134641-103137282	SK-N-SH	brain:	n/a	chr8:103136510-103136524 chr8:103136838-103136850 chr8:103136161-103136173 chr8:103135573-103135586 chr8:103136836-103136855
30	MAX	chr8:103134727-103136830	GM12878	blood:	n/a	chr8:103135967-103135976 chr8:103136145-103136154 chr8:103136725-103136735
31	POLR2A	chr8:103134730-103137421	GM12878	blood:	n/a	n/a
32	POLR2A	chr8:103135290-103135688	GM12892	blood:	n/a	n/a
33	POLR2A	chr8:103135173-103136060	GM12891	blood:	n/a	n/a
34	POLR2A	chr8:103135213-103135968	GM12891	blood:	n/a	n/a
35	SMC3	chr8:103134681-103137007	SK-N-SH	brain:	n/a	n/a
36	STAT5A	chr8:103135152-103136297	GM12878	blood:	n/a	chr8:103135734-103135746
37	POU2F2	chr8:103135009-103135715	GM12878	blood:	n/a	chr8:103135567-103135579
38	POLR2A	chr8:103135270-103135648	GM12892	blood:	n/a	n/a
39	SIN3A	chr8:103135319-103135832	GM12878	blood:	n/a	n/a
40	BHLHE40	chr8:103135105-103135552	GM12878	blood:	n/a	n/a
41	RUNX3	chr8:103135008-103136073	GM12878	blood:	n/a	n/a
42	POLR2A	chr8:103135163-103136745	GM12892	blood:	n/a	n/a
43	WRNIP1	chr8:103135047-103135817	GM12878	blood:	n/a	n/a
44	POLR2A	chr8:103134829-103136255	GM12878	blood:	n/a	n/a
45	ZNF384	chr8:103135189-103135891	GM12878	blood:	n/a	n/a
46	ZNF143	chr8:103134607-103135660	GM12878	blood:	n/a	n/a
47	STAT3	chr8:103135295-103135783	GM12878	blood:	n/a	chr8:103135734-103135746
48	STAT1	chr8:103134987-103135663	GM12878	blood:	n/a	n/a
49	RAD21	chr8:103134709-103136295	GM12878	blood:	n/a	chr8:103136161-103136173 chr8:103135573-103135586
50	EP300	chr8:103135057-103135809	GM12878	blood:	n/a	chr8:103135689-103135703 chr8:103135690-103135704

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:103128368..103132179-chr8:103133756..103135820,3	K562	blood:
2	chr8:103128368..103131066-chr8:103133756..103135740,2	K562	blood:

Variant related genes	Relation type
MIR5680	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs549120	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs658382	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891232	chr8:103001914-103138045	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv891233	chr8:103001914-103162638	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	nsv891235	chr8:103032394-103162638	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv891239	chr8:103056517-103162638	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	nsv891240	chr8:103070301-103162638	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
6	esv2754264	chr8:103070824-103170824	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
7	nsv891241	chr8:103079505-103162638	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1020359	chr8:103109921-103318415	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
9	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103120400-103135400	Weak transcription	Placenta	Placenta
2	chr8:103134200-103135400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:103134200-103135400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:103134200-103135400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:103134200-103135600	Flanking Active TSS	Stomach Smooth Muscle	stomach
6	chr8:103134200-103135800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:103134200-103137200	Active TSS	Brain Cingulate Gyrus	brain
8	chr8:103134400-103135400	Weak transcription	Esophagus	oesophagus
9	chr8:103134400-103135600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:103134400-103136000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:103134400-103136800	Active TSS	Fetal Brain Female	brain
12	chr8:103134600-103135400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:103134600-103135600	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr8:103134600-103136000	Flanking Active TSS	GM12878-XiMat	blood
15	chr8:103134600-103137000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:103134800-103135400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr8:103134800-103135400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
18	chr8:103134800-103135400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr8:103134800-103135400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr8:103134800-103135600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr8:103134800-103135600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr8:103134800-103135600	Flanking Active TSS	Colon Smooth Muscle	Colon
23	chr8:103134800-103135600	Flanking Active TSS	Fetal Heart	heart
24	chr8:103134800-103135600	Flanking Active TSS	NHDF-Ad	bronchial
25	chr8:103134800-103135800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr8:103134800-103136000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr8:103134800-103136000	Flanking Active TSS	Fetal Muscle Trunk	muscle
28	chr8:103134800-103136000	Flanking Active TSS	Fetal Muscle Leg	muscle
29	chr8:103134800-103136000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr8:103134800-103137000	Active TSS	Aorta	Aorta
31	chr8:103134800-103137200	Active TSS	Brain Angular Gyrus	brain
32	chr8:103134800-103137200	Active TSS	Ovary	ovary
33	chr8:103134800-103137400	Active TSS	Brain Anterior Caudate	brain
34	chr8:103135000-103135400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:103135000-103135400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr8:103135000-103135400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr8:103135000-103135400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:103135000-103135400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
39	chr8:103135000-103135400	Flanking Active TSS	Fetal Kidney	kidney
40	chr8:103135000-103135400	Enhancers	Fetal Lung	lung
41	chr8:103135000-103135400	Bivalent Enhancer	Fetal Thymus	thymus
42	chr8:103135000-103135600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr8:103135000-103135600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
44	chr8:103135000-103135600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
45	chr8:103135000-103135600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr8:103135000-103135600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr8:103135000-103135600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr8:103135000-103135600	Flanking Active TSS	Fetal Stomach	stomach
49	chr8:103135000-103135600	Enhancers	NHLF	lung
50	chr8:103135000-103135800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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