Variant report

Variant	rs2285348
Chromosome Location	chr7:127224976-127224977
allele	C/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	JUN	chr7:127224806-127227054	K562	blood:	n/a	chr7:127225673-127225682 chr7:127225672-127225685
2	ELF1	chr7:127224681-127225962	GM12878	blood:	n/a	chr7:127225456-127225468 chr7:127225455-127225464
3	POLR2A	chr7:127224660-127226011	K562	blood:	n/a	n/a
4	NR2F2	chr7:127224924-127226631	K562	blood:	n/a	n/a
5	POLR2A	chr7:127224820-127225982	Raji	blood:	n/a	n/a
6	MXI1	chr7:127223511-127226381	SK-N-SH	brain:	n/a	n/a
7	MAX	chr7:127224875-127226166	SK-N-SH	brain:	n/a	chr7:127225301-127225311 chr7:127225576-127225585 chr7:127225255-127225264
8	SIN3A	chr7:127224825-127226004	H1-hESC	embryonic stem cell:	n/a	chr7:127225559-127225572
9	SIN3AK20	chr7:127224855-127225965	MCF-7	breast:	n/a	n/a
10	POLR2A	chr7:127224829-127225994	GM12878	blood:	n/a	n/a
11	MAX	chr7:127224823-127226089	HepG2	liver:	n/a	chr7:127225301-127225311 chr7:127225576-127225585 chr7:127225255-127225264
12	UBTF	chr7:127224943-127225956	K562	blood:	n/a	n/a
13	POLR2A	chr7:127224953-127225182	K562	blood:	n/a	n/a
14	POLR2A	chr7:127224853-127225964	GM15510	blood:	n/a	n/a
15	CREB1	chr7:127224666-127226159	K562	blood:	n/a	chr7:127225671-127225684
16	SMARCB1	chr7:127224721-127226035	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr7:127224847-127226416	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr7:127224856-127225059	MCF-7	breast:	n/a	n/a
19	MAX	chr7:127224762-127226102	MCF-7	breast:	n/a	chr7:127225301-127225311 chr7:127225576-127225585 chr7:127225255-127225264
20	POLR2A	chr7:127224722-127225027	HepG2	liver:	n/a	n/a
21	ZNF263	chr7:127224812-127225985	HEK293-T-REx	kidney:	n/a	n/a
22	POLR2A	chr7:127224804-127225939	GM19193	blood:	n/a	n/a
23	GABPA	chr7:127224916-127226264	MCF-7	breast:	n/a	chr7:127225300-127225309
24	MAX	chr7:127224720-127226114	K562	blood:	n/a	chr7:127225301-127225311 chr7:127225576-127225585 chr7:127225255-127225264
25	POLR2A	chr7:127224965-127225979	GM18505	blood:	n/a	n/a
26	POLR2A	chr7:127224811-127225957	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:127223867..127227193-chr7:127227909..127230578,5	MCF-7	breast:
2	chr7:127210811..127213532-chr7:127222493..127224995,2	K562	blood:
3	chr7:127223375..127232960-chr7:127286940..127295803,24	K562	blood:
4	chr7:127224289..127226040-chr7:127290840..127293019,2	MCF-7	breast:
5	chr7:127224949..127227429-chr7:127232952..127234995,2	MCF-7	breast:
6	chr7:127222868..127230871-chr7:127290370..127294912,16	K562	blood:

Variant related genes	Relation type
ARF5	TF binding region
ENSG00000240790	Chromatin interaction
ENSG00000197157	Chromatin interaction
ENSG00000179562	Chromatin interaction
ENSG00000004059	Chromatin interaction
ENSG00000106328	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2233574	1.00[AMR][1000 genomes]
rs34887879	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73450906	1.00[EUR][1000 genomes]
rs7786739	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831122	chr7:127143207-127357885	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr7:127223400-127225200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:127223600-127225000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:127223600-127225000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:127223600-127225000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
5	chr7:127223600-127225000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr7:127223600-127225000	Flanking Active TSS	NHEK	skin
7	chr7:127223600-127225000	Flanking Active TSS	NHLF	lung
8	chr7:127223600-127225200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr7:127223600-127225200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:127223600-127225200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:127223600-127225200	Flanking Active TSS	Brain Anterior Caudate	brain
12	chr7:127223600-127225200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:127223600-127225200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr7:127223600-127225200	Flanking Active TSS	HUVEC	blood vessel
15	chr7:127223800-127225000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:127223800-127225000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
17	chr7:127223800-127225000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr7:127223800-127225000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:127223800-127225000	Flanking Active TSS	Brain Angular Gyrus	brain
20	chr7:127223800-127225000	Flanking Active TSS	Colon Smooth Muscle	Colon
21	chr7:127223800-127225000	Flanking Active TSS	Psoas Muscle	Psoas
22	chr7:127223800-127225000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
23	chr7:127223800-127225000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
24	chr7:127223800-127225000	Flanking Active TSS	Right Atrium	heart
25	chr7:127223800-127225000	Flanking Active TSS	Hela-S3	cervix
26	chr7:127223800-127225000	Flanking Active TSS	Osteobl	bone
27	chr7:127223800-127225200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr7:127223800-127225200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr7:127223800-127225200	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr7:127223800-127225200	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr7:127223800-127225200	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr7:127223800-127225200	Flanking Active TSS	Colonic Mucosa	Colon
33	chr7:127223800-127225200	Flanking Active TSS	Fetal Brain Male	brain
34	chr7:127223800-127225200	Flanking Active TSS	Pancreas	Pancrea
35	chr7:127223800-127225200	Flanking Active TSS	Right Ventricle	heart
36	chr7:127223800-127225400	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr7:127223800-127225400	Flanking Active TSS	Brain Germinal Matrix	brain
38	chr7:127223800-127225800	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr7:127224000-127225000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr7:127224000-127225000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:127224000-127225000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:127224000-127225000	Flanking Active TSS	Fetal Intestine Large	intestine
43	chr7:127224000-127225200	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr7:127224000-127225200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr7:127224000-127225200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr7:127224000-127225200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr7:127224000-127225200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr7:127224000-127225200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr7:127224000-127225200	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr7:127224000-127225200	Flanking Active TSS	Ovary	ovary

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