Variant report

Variant	rs2525737
Chromosome Location	chr7:120627274-120627275
allele	A/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	SMC3	chr7:120626321-120630414	SK-N-SH	brain:	n/a	chr7:120628784-120628794 chr7:120627827-120627841
2	IRF1	chr7:120627116-120635409	K562	blood:	n/a	chr7:120630359-120630372 chr7:120627249-120627263 chr7:120631335-120631349 chr7:120631339-120631352 chr7:120631339-120631352 chr7:120635391-120635408 chr7:120630358-120630365 chr7:120631333-120631353 chr7:120628715-120628729 chr7:120635200-120635214 chr7:120631338-120631352 chr7:120630359-120630370 chr7:120631712-120631728 chr7:120634512-120634525 chr7:120632017-120632026 chr7:120631336-120631347 chr7:120630266-120630273 chr7:120631339-120631359 chr7:120631762-120631769 chr7:120634516-120634533
3	GATA1	chr7:120626486-120627991	PBDE	blood:	n/a	chr7:120627424-120627441 chr7:120627422-120627432
4	EP300	chr7:120627204-120629388	K562	blood:	n/a	chr7:120628736-120628752 chr7:120628784-120628800
5	RAD21	chr7:120626694-120630432	SK-N-SH	brain:	n/a	chr7:120628734-120628747 chr7:120628739-120628752 chr7:120628735-120628749
6	TEAD4	chr7:120627191-120630447	K562	blood:	n/a	n/a
7	RCOR1	chr7:120626647-120628237	K562	blood:	n/a	n/a
8	STAT5A	chr7:120627202-120630414	K562	blood:	n/a	chr7:120628729-120628741 chr7:120628941-120628949
9	TEAD4	chr7:120627176-120629469	K562	blood:	n/a	n/a
10	CTCF	chr7:120627240-120627390	AG04450	lung:	n/a	n/a
11	PML	chr7:120627185-120629563	K562	blood:	n/a	chr7:120628701-120628709
12	RCOR1	chr7:120626702-120629554	K562	blood:	n/a	n/a
13	CTCF	chr7:120627091-120628577	A549	lung:	n/a	chr7:120627825-120627843 chr7:120627828-120627841 chr7:120627826-120627842
14	POLR2A	chr7:120626887-120627396	MCF10A-Er-Src	breast:	n/a	n/a
15	MXI1	chr7:120626776-120632296	SK-N-SH	brain:	n/a	n/a
16	EP300	chr7:120627264-120627464	GM12878	blood:	n/a	n/a
17	TBL1XR1	chr7:120627003-120629347	K562	blood:	n/a	n/a
18	CREB1	chr7:120627197-120631738	K562	blood:	n/a	n/a
19	STAT5A	chr7:120627211-120627634	K562	blood:	n/a	n/a
20	MYC	chr7:120627096-120630340	K562	blood:	n/a	chr7:120628078-120628088 chr7:120628900-120628909
21	PML	chr7:120627267-120629478	K562	blood:	n/a	chr7:120628701-120628709
22	JUND	chr7:120627260-120629334	K562	blood:	n/a	chr7:120628045-120628054
23	TAL1	chr7:120627248-120628488	K562	blood:	n/a	chr7:120627423-120627441

No.	Distal block	Cell Line	Cell type
1	chr7:120627247..120628312-chr7:120721151..120721990,7	MCF-7	breast:
2	chr7:120621518..120649031-chr7:120712706..120728931,108	K562	blood:
3	chr7:120624020..120645873-chr7:120713358..120727138,77	K562	blood:

Variant related genes	Relation type
CPED1	TF binding region
ENSG00000106034	Chromatin interaction
ENSG00000212628	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10272601	0.81[ASN][1000 genomes]
rs10464522	0.81[ASN][1000 genomes]
rs10953922	0.81[ASN][1000 genomes]
rs1557857	0.82[ASN][1000 genomes]
rs1859318	0.82[ASN][1000 genomes]
rs1859319	0.82[ASN][1000 genomes]
rs2074577	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2244863	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2244865	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2248890	0.89[ASN][1000 genomes]
rs2525705	0.82[ASN][1000 genomes]
rs2525709	0.81[ASN][1000 genomes]
rs2525712	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525713	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525719	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525729	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2525730	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2525736	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2525741	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2525743	0.81[ASN][1000 genomes]
rs2721341	0.81[ASN][1000 genomes]
rs2721354	0.89[ASN][1000 genomes]
rs2721358	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2721363	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2721365	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2721367	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2721372	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3757556	0.81[ASN][1000 genomes]
rs41688	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41689	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41690	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6964344	0.81[ASN][1000 genomes]
rs745167	0.81[ASN][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	nsv831114	chr7:120595624-120804510	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2525737	TSPAN12	cis	Artery Tibial	GTEx

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120591600-120627800	Weak transcription	Pancreas	Pancrea
2	chr7:120592400-120628000	Weak transcription	Stomach Mucosa	stomach
3	chr7:120608600-120627600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr7:120609400-120627800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:120609400-120627800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:120609400-120628600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:120611600-120627400	Weak transcription	Brain Angular Gyrus	brain
8	chr7:120611600-120627600	Weak transcription	Fetal Muscle Leg	muscle
9	chr7:120611600-120627600	Weak transcription	Fetal Stomach	stomach
10	chr7:120611600-120627800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:120611600-120627800	Weak transcription	Esophagus	oesophagus
12	chr7:120611600-120627800	Weak transcription	Thymus	Thymus
13	chr7:120615000-120627600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr7:120615400-120627800	Weak transcription	Colonic Mucosa	Colon
15	chr7:120615400-120628000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:120615600-120627400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr7:120615600-120627600	Weak transcription	Brain Anterior Caudate	brain
18	chr7:120615600-120627800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr7:120615600-120627800	Weak transcription	Colon Smooth Muscle	Colon
20	chr7:120615600-120627800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr7:120615600-120628000	Weak transcription	Small Intestine	intestine
22	chr7:120615800-120627800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr7:120616000-120627400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr7:120616000-120627600	Weak transcription	Brain Hippocampus Middle	brain
25	chr7:120616200-120627400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr7:120616200-120627400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:120616200-120627400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr7:120616200-120627800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr7:120616200-120627800	Weak transcription	Fetal Intestine Large	intestine
30	chr7:120616600-120627600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr7:120616600-120627600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr7:120616800-120628000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:120617000-120627800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr7:120617000-120627800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr7:120617200-120627800	Weak transcription	Adipose Nuclei	Adipose
36	chr7:120617200-120627800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr7:120617200-120627800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr7:120617200-120627800	Weak transcription	Left Ventricle	heart
39	chr7:120617400-120627800	Weak transcription	Liver	Liver
40	chr7:120617400-120627800	Weak transcription	Placenta	Placenta
41	chr7:120617400-120627800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr7:120617400-120627800	Weak transcription	HUVEC	blood vessel
43	chr7:120618000-120627800	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr7:120620400-120627800	Weak transcription	Right Atrium	heart
45	chr7:120620800-120628600	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr7:120622000-120627600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr7:120622000-120627800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr7:120622400-120627600	Weak transcription	HMEC	breast
49	chr7:120622400-120627800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr7:120622600-120627800	Weak transcription	GM12878-XiMat	blood

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