Variant report

Variant	rs72681127
Chromosome Location	chr8:103135568-103135569
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	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	RAD21	chr8:103135429-103135715	SK-N-SH_RA	brain:	n/a	chr8:103135573-103135586
6	ATF2	chr8:103135237-103135742	GM12878	blood:	n/a	n/a
7	POLR2A	chr8:103134988-103137449	GM19193	blood:	n/a	n/a
8	POLR2A	chr8:103134915-103137498	GM18951	blood:	n/a	n/a
9	RUNX3	chr8:103135002-103136241	GM12878	blood:	n/a	n/a
10	MAZ	chr8:103135138-103136383	GM12878	blood:	n/a	chr8:103135967-103135976 chr8:103136145-103136154
11	CTCF	chr8:103135440-103135590	GM12872	blood:	n/a	n/a
12	RELA	chr8:103135068-103135845	GM19099	blood:	n/a	n/a
13	MXI1	chr8:103134701-103135587	GM12878	blood:	n/a	n/a
14	CTCF	chr8:103135519-103135572	GM13976	blood:	n/a	n/a
15	POLR2A	chr8:103134822-103136017	GM12878	blood:	n/a	n/a
16	CTCF	chr8:103135384-103136518	SK-N-SH	brain:	n/a	chr8:103136108-103136126 chr8:103136109-103136125
17	ELF1	chr8:103135547-103136310	GM12878	blood:	n/a	chr8:103135908-103135919
18	POLR2A	chr8:103135064-103136521	GM12878	blood:	n/a	n/a
19	EBF1	chr8:103135124-103135650	GM12878	blood:	n/a	n/a
20	PML	chr8:103135138-103135929	GM12878	blood:	n/a	n/a
21	EP300	chr8:103135076-103135901	GM12878	blood:	n/a	chr8:103135689-103135703 chr8:103135690-103135704
22	MTA3	chr8:103134997-103135900	GM12878	blood:	n/a	n/a
23	TBP	chr8:103134595-103135926	GM12878	blood:	n/a	n/a
24	CTCF	chr8:103135509-103135621	GM19240	blood:	n/a	n/a
25	CTCF	chr8:103135103-103136786	A549	lung:	n/a	chr8:103136108-103136126 chr8:103136109-103136125 chr8:103136538-103136551
26	TCF12	chr8:103135418-103135663	GM12878	blood:	n/a	n/a
27	POLR2A	chr8:103135417-103135649	GM12878	blood:	n/a	n/a
28	SMC3	chr8:103135102-103136300	GM12878	blood:	n/a	n/a
29	NFIC	chr8:103134916-103135962	GM12878	blood:	n/a	chr8:103135043-103135059
30	CHD1	chr8:103134788-103136381	GM12878	blood:	n/a	chr8:103135931-103135938
31	FOXM1	chr8:103135227-103136087	GM12878	blood:	n/a	n/a
32	FOXM1	chr8:103135096-103135673	GM12878	blood:	n/a	n/a
33	POLR2A	chr8:103135288-103135930	GM12891	blood:	n/a	n/a
34	CHD2	chr8:103134860-103136283	GM12878	blood:	n/a	chr8:103135931-103135938
35	POLR2A	chr8:103135291-103135644	GM12891	blood:	n/a	n/a
36	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
37	MAX	chr8:103134727-103136830	GM12878	blood:	n/a	chr8:103135967-103135976 chr8:103136145-103136154 chr8:103136725-103136735
38	POLR2A	chr8:103134730-103137421	GM12878	blood:	n/a	n/a
39	POLR2A	chr8:103135290-103135688	GM12892	blood:	n/a	n/a
40	POLR2A	chr8:103135173-103136060	GM12891	blood:	n/a	n/a
41	POLR2A	chr8:103135213-103135968	GM12891	blood:	n/a	n/a
42	TAF1	chr8:103135347-103135749	GM12878	blood:	n/a	n/a
43	SMC3	chr8:103134681-103137007	SK-N-SH	brain:	n/a	n/a
44	STAT5A	chr8:103135152-103136297	GM12878	blood:	n/a	chr8:103135734-103135746
45	POU2F2	chr8:103135009-103135715	GM12878	blood:	n/a	chr8:103135567-103135579
46	POLR2A	chr8:103135270-103135648	GM12892	blood:	n/a	n/a
47	SIN3A	chr8:103135319-103135832	GM12878	blood:	n/a	n/a
48	ELF1	chr8:103135422-103136379	GM12878	blood:	n/a	chr8:103135908-103135919
49	CTCF	chr8:103135537-103135597	GM12892	blood:	n/a	n/a
50	RUNX3	chr8:103135008-103136073	GM12878	blood:	n/a	n/a

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: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs13250998	1.00[ASN][1000 genomes]
rs13261528	1.00[ASN][1000 genomes]
rs13278875	1.00[ASN][1000 genomes]
rs1465164	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1465165	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1465166	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16868899	1.00[ASN][1000 genomes]
rs16869130	1.00[ASN][1000 genomes]
rs16869132	1.00[ASN][1000 genomes]
rs17414892	1.00[ASN][1000 genomes]
rs17415702	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17415729	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17415778	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17416694	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17496928	1.00[ASN][1000 genomes]
rs17498430	1.00[ASN][1000 genomes]
rs17498920	1.00[ASN][1000 genomes]
rs17499768	1.00[ASN][1000 genomes]
rs17500046	1.00[ASN][1000 genomes]
rs17500151	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17500306	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17500367	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17506740	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17506775	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17507464	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17507512	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34297513	1.00[ASN][1000 genomes]
rs34356268	1.00[ASN][1000 genomes]
rs35166521	1.00[ASN][1000 genomes]
rs35316247	1.00[ASN][1000 genomes]
rs3899035	1.00[ASN][1000 genomes]
rs4483125	1.00[ASN][1000 genomes]
rs72681128	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681129	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681131	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681134	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681136	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681138	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[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:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103134200-103135600	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr8:103134200-103135800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:103134200-103137200	Active TSS	Brain Cingulate Gyrus	brain
4	chr8:103134400-103135600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:103134400-103136000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:103134400-103136800	Active TSS	Fetal Brain Female	brain
7	chr8:103134600-103135600	Flanking Active TSS	Primary T cells from cord blood	blood
8	chr8:103134600-103136000	Flanking Active TSS	GM12878-XiMat	blood
9	chr8:103134600-103137000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr8:103134800-103135600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
11	chr8:103134800-103135600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
12	chr8:103134800-103135600	Flanking Active TSS	Colon Smooth Muscle	Colon
13	chr8:103134800-103135600	Flanking Active TSS	Fetal Heart	heart
14	chr8:103134800-103135600	Flanking Active TSS	NHDF-Ad	bronchial
15	chr8:103134800-103135800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr8:103134800-103136000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr8:103134800-103136000	Flanking Active TSS	Fetal Muscle Trunk	muscle
18	chr8:103134800-103136000	Flanking Active TSS	Fetal Muscle Leg	muscle
19	chr8:103134800-103136000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr8:103134800-103137000	Active TSS	Aorta	Aorta
21	chr8:103134800-103137200	Active TSS	Brain Angular Gyrus	brain
22	chr8:103134800-103137200	Active TSS	Ovary	ovary
23	chr8:103134800-103137400	Active TSS	Brain Anterior Caudate	brain
24	chr8:103135000-103135600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:103135000-103135600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
26	chr8:103135000-103135600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
27	chr8:103135000-103135600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:103135000-103135600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr8:103135000-103135600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr8:103135000-103135600	Flanking Active TSS	Fetal Stomach	stomach
31	chr8:103135000-103135600	Enhancers	NHLF	lung
32	chr8:103135000-103135800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr8:103135000-103136000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:103135000-103136000	Bivalent/Poised TSS	Colonic Mucosa	Colon
35	chr8:103135000-103136200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr8:103135000-103136800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
37	chr8:103135000-103136800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
38	chr8:103135000-103137000	Active TSS	H9 Cell Line	embryonic stem cell
39	chr8:103135000-103137000	Active TSS	Right Ventricle	heart
40	chr8:103135200-103135600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
41	chr8:103135200-103135600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr8:103135200-103135600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:103135200-103135600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
44	chr8:103135200-103135600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr8:103135200-103135600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
46	chr8:103135200-103135600	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
47	chr8:103135200-103135600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
48	chr8:103135200-103135600	Active TSS	Fetal Brain Male	brain
49	chr8:103135200-103135600	Weak transcription	Gastric	stomach
50	chr8:103135200-103135600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum

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