Variant report

Variant	rs2930039
Chromosome Location	chr8:61566407-61566408
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:109)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:109 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr8:61565944-61566684	GM12878	blood:	n/a	n/a
2	MAX	chr8:61565540-61566615	A549	lung:	n/a	n/a
3	POLR2A	chr8:61566272-61566548	ProgFib	skin:	n/a	n/a
4	RCOR1	chr8:61565729-61566736	Hela-S3	cervix:	n/a	n/a
5	WRNIP1	chr8:61566206-61566508	GM12878	blood:	n/a	n/a
6	SPI1	chr8:61566221-61566645	GM12891	blood:	n/a	n/a
7	IRF1	chr8:61566219-61566525	K562	blood:	n/a	n/a
8	MXI1	chr8:61566309-61566964	Hela-S3	cervix:	n/a	n/a
9	TCF7L2	chr8:61566234-61566494	MCF-7	breast:	n/a	n/a
10	PAX5	chr8:61566293-61566647	GM12878	blood:	n/a	n/a
11	POLR2A	chr8:61566285-61566574	GM12878	blood:	n/a	n/a
12	ELF1	chr8:61565826-61566687	MCF-7	breast:	n/a	n/a
13	RCOR1	chr8:61564114-61566645	K562	blood:	n/a	n/a
14	MAX	chr8:61564128-61567062	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr8:61565709-61566603	MCF-7	breast:	n/a	n/a
16	CHD1	chr8:61566051-61566430	H1-hESC	embryonic stem cell:	n/a	n/a
17	MTA3	chr8:61565664-61566800	GM12878	blood:	n/a	n/a
18	POLR2A	chr8:61566038-61566650	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr8:61566386-61566417	H1-hESC	embryonic stem cell:	n/a	n/a
20	RCOR1	chr8:61566007-61566594	GM12878	blood:	n/a	n/a
21	SPI1	chr8:61566251-61566768	GM12878	blood:	n/a	n/a
22	GTF2F1	chr8:61565780-61566965	Hela-S3	cervix:	n/a	n/a
23	CHD2	chr8:61565721-61566607	GM12878	blood:	n/a	n/a
24	POU2F2	chr8:61565951-61566556	GM12891	blood:	n/a	n/a
25	HCFC1	chr8:61563509-61566895	Hela-S3	cervix:	n/a	n/a
26	MAX	chr8:61565625-61566586	GM12878	blood:	n/a	n/a
27	MAX	chr8:61565572-61566759	MCF-7	breast:	n/a	n/a
28	TCF7L2	chr8:61565675-61566793	Hela-S3	cervix:	n/a	n/a
29	MAX	chr8:61564001-61566715	A549	lung:	n/a	n/a
30	TBP	chr8:61566084-61566692	Hela-S3	cervix:	n/a	n/a
31	FOXA1	chr8:61565978-61566413	T-47D	breast:	n/a	n/a
32	ZNF263	chr8:61565688-61566654	HEK293-T-REx	kidney:	n/a	chr8:61566470-61566479
33	ZNF143	chr8:61565695-61566622	GM12878	blood:	n/a	n/a
34	ZEB1	chr8:61565524-61566621	GM12878	blood:	n/a	n/a
35	RCOR1	chr8:61565792-61566580	K562	blood:	n/a	n/a
36	POU2F2	chr8:61565635-61566413	GM12878	blood:	n/a	n/a
37	POLR2A	chr8:61566164-61566550	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr8:61565640-61566625	Hela-S3	cervix:	n/a	n/a
39	ELF1	chr8:61565623-61566786	GM12878	blood:	n/a	n/a
40	IKZF1	chr8:61566284-61566601	GM12878	blood:	n/a	n/a
41	ATF2	chr8:61566000-61566636	GM12878	blood:	n/a	n/a
42	E2F4	chr8:61566188-61566461	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr8:61565965-61566498	Hela-S3	cervix:	n/a	n/a
44	SMARCB1	chr8:61565626-61566666	Hela-S3	cervix:	n/a	n/a
45	HA-E2F1	chr8:61563994-61566764	MCF-7	breast:	n/a	chr8:61564796-61564806 chr8:61564908-61564917 chr8:61564323-61564338 chr8:61564992-61565002 chr8:61564986-61564995 chr8:61564451-61564461 chr8:61564295-61564304 chr8:61565116-61565127 chr8:61564888-61564897
46	NFIC	chr8:61566062-61566713	GM12878	blood:	n/a	n/a
47	BACH1	chr8:61565689-61566645	H1-hESC	embryonic stem cell:	n/a	n/a
48	USF2	chr8:61566077-61566472	H1-hESC	embryonic stem cell:	n/a	n/a
49	PAX5	chr8:61566276-61566605	GM12878	blood:	n/a	n/a
50	TCF7L2	chr8:61565929-61566612	PANC-1	pancreas:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:61562515..61568989-chr8:61586860..61594946,37	MCF-7	breast:
2	chr8:61559343..61568621-chr8:61588061..61597189,35	MCF-7	breast:
3	chr8:61563005..61568398-chr8:61588453..61593214,14	K562	blood:
4	chr8:61562433..61567496-chr8:61571905..61575539,5	K562	blood:
5	chr8:61562616..61568326-chr8:61569044..61575643,11	MCF-7	breast:
6	chr8:61562679..61568216-chr8:61588453..61593754,19	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CA8-5	chr8:61565705-61566591	NONHSAT126843
2	lnc-CA8-5	chr8:61565705-61566591	NONHSAT126846

No data

Variant related genes	Relation type
ENSG00000254869	TF binding region
ENSG00000171316	Chromatin interaction
ENSG00000255289	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2946152	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2981276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2981278	1.00[ASN][1000 genomes]
rs57578368	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61433442	1.00[ASN][1000 genomes]
rs61517679	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61701788	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6985208	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6990401	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7016550	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv530383	chr8:61431756-61605551	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers 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	33 gene(s)	inside rSNPs	diseases
4	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv824657	chr8:61555227-61626758	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv824658	chr8:61561488-61612108	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61563400-61566800	Active TSS	Sigmoid Colon	Sigmoid Colon
2	chr8:61563400-61567200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr8:61563600-61566800	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr8:61563600-61566800	Active TSS	Placenta Amnion	Placenta Amnion
5	chr8:61563600-61566800	Active TSS	Psoas Muscle	Psoas
6	chr8:61563600-61566800	Active TSS	Right Ventricle	heart
7	chr8:61563800-61566600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:61563800-61566800	Active TSS	Brain Anterior Caudate	brain
9	chr8:61563800-61566800	Active TSS	Brain Hippocampus Middle	brain
10	chr8:61563800-61566800	Active TSS	Brain Substantia Nigra	brain
11	chr8:61563800-61566800	Active TSS	Fetal Intestine Large	intestine
12	chr8:61563800-61566800	Active TSS	GM12878-XiMat	blood
13	chr8:61564000-61566600	Active TSS	Ovary	ovary
14	chr8:61564000-61566800	Active TSS	Gastric	stomach
15	chr8:61564200-61566600	Active TSS	Primary B cells from peripheral blood	blood
16	chr8:61564200-61566800	Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr8:61564200-61566800	Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr8:61564400-61566600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
19	chr8:61564400-61566800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr8:61565000-61566800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:61565000-61566800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:61565200-61566800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
23	chr8:61565200-61566800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
24	chr8:61565200-61567000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
25	chr8:61565200-61567000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
26	chr8:61565200-61567000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
27	chr8:61565400-61566600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr8:61565400-61566600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr8:61565400-61566600	Flanking Active TSS	K562	blood
30	chr8:61565400-61566800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
31	chr8:61565400-61566800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
32	chr8:61565400-61566800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:61565400-61566800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
34	chr8:61565400-61567000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:61565600-61566600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:61565600-61566600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:61565600-61566600	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
38	chr8:61565600-61566600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
39	chr8:61565600-61566600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr8:61565600-61566600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
41	chr8:61565600-61566600	Flanking Bivalent TSS/Enh	Dnd41	blood
42	chr8:61565600-61566800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
43	chr8:61565600-61566800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
44	chr8:61565600-61566800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
45	chr8:61565600-61566800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
46	chr8:61565600-61566800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
47	chr8:61565600-61566800	Bivalent/Poised TSS	HepG2	liver
48	chr8:61565600-61566800	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
49	chr8:61565600-61567000	Bivalent/Poised TSS	Fetal Kidney	kidney
50	chr8:61565800-61566600	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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