Variant report

Variant	rs7682548
Chromosome Location	chr4:100484290-100484291
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:152)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:152 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr4:100484163-100485243	HepG2	liver:	n/a	n/a
2	MYBL2	chr4:100484039-100485486	HepG2	liver:	n/a	n/a
3	POLR2A	chr4:100484100-100485509	NB4	blood:	n/a	n/a
4	MYC	chr4:100484252-100484313	MCF-7	breast:	n/a	n/a
5	SPI1	chr4:100484228-100485390	HL-60	blood:	n/a	chr4:100485089-100485098
6	POLR2A	chr4:100484121-100485507	GM18505	blood:	n/a	n/a
7	RCOR1	chr4:100484221-100485366	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr4:100484220-100485492	GM18951	blood:	n/a	n/a
9	POLR2A	chr4:100484217-100485490	HCT-116	colon:	n/a	n/a
10	MAX	chr4:100484065-100485296	K562	blood:	n/a	chr4:100485172-100485182
11	MXI1	chr4:100484102-100485403	HepG2	liver:	n/a	n/a
12	POLR2A	chr4:100484213-100485344	HUVEC	blood vessel:	n/a	n/a
13	MAX	chr4:100484180-100484398	MCF-7	breast:	n/a	n/a
14	RCOR1	chr4:100484197-100485437	K562	blood:	n/a	n/a
15	POLR2A	chr4:100483655-100485509	HepG2	liver:	n/a	n/a
16	POLR2A	chr4:100484281-100485450	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr4:100484047-100485512	Hela-S3	cervix:	n/a	n/a
18	MXI1	chr4:100484281-100485504	K562	blood:	n/a	n/a
19	FOSL2	chr4:100484028-100484472	HepG2	liver:	n/a	n/a
20	SMC3	chr4:100484275-100485458	Hela-S3	cervix:	n/a	n/a
21	STAT5A	chr4:100484189-100485246	GM12878	blood:	n/a	chr4:100484371-100484383
22	POLR2A	chr4:100484140-100485556	SK-N-SH	brain:	n/a	n/a
23	STAT3	chr4:100484252-100485492	MCF10A-Er-Src	breast:	n/a	chr4:100484371-100484383
24	ATF2	chr4:100484239-100485400	GM12878	blood:	n/a	chr4:100484568-100484579
25	MAX	chr4:100484120-100485370	NB4	blood:	n/a	chr4:100485172-100485182
26	POLR2A	chr4:100483817-100485324	GM12892	blood:	n/a	n/a
27	MAX	chr4:100484071-100485343	H1-hESC	embryonic stem cell:	n/a	chr4:100485172-100485182
28	POLR2A	chr4:100484175-100485520	IMR90	lung:	n/a	n/a
29	MTA3	chr4:100484071-100485357	GM12878	blood:	n/a	n/a
30	POLR2A	chr4:100484045-100484364	ECC-1	luminal epithelium:	n/a	n/a
31	POLR2A	chr4:100484107-100485446	K562	blood:	n/a	n/a
32	CREB1	chr4:100484181-100485554	HepG2	liver:	n/a	n/a
33	POLR2A	chr4:100484288-100485523	K562	blood:	n/a	n/a
34	MXI1	chr4:100484229-100485567	GM12878	blood:	n/a	n/a
35	POLR2A	chr4:100484171-100485305	GM12892	blood:	n/a	n/a
36	CREB1	chr4:100484263-100485642	K562	blood:	n/a	n/a
37	MAX	chr4:100484185-100485254	H1-hESC	embryonic stem cell:	n/a	chr4:100485172-100485182
38	CREB1	chr4:100484164-100485586	GM12878	blood:	n/a	n/a
39	FOXM1	chr4:100484276-100485426	GM12878	blood:	n/a	n/a
40	POLR2A	chr4:100484255-100485509	GM15510	blood:	n/a	n/a
41	SRF	chr4:100484161-100485487	HCT-116	colon:	n/a	n/a
42	POLR2A	chr4:100484243-100485233	GM12878	blood:	n/a	n/a
43	POLR2A	chr4:100484221-100485507	K562	blood:	n/a	n/a
44	MAX	chr4:100484175-100484404	K562	blood:	n/a	n/a
45	MYC	chr4:100484249-100484412	HepG2	liver:	n/a	n/a
46	POLR2A	chr4:100484124-100485710	MCF10A-Er-Src	breast:	n/a	n/a
47	MXI1	chr4:100484130-100485528	IMR90	lung:	n/a	n/a
48	GTF2F1	chr4:100484267-100485424	Hela-S3	cervix:	n/a	n/a
49	HEY1	chr4:100484178-100484500	HepG2	liver:	n/a	n/a
50	POLR2A	chr4:100484260-100485254	GM12891	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:100483953..100487087-chr4:100868908..100871675,3	MCF-7	breast:
2	chr4:100480938..100486909-chr4:100867873..100873651,15	K562	blood:
3	chr4:100483752..100485298-chr4:100736199..100738543,2	MCF-7	breast:
4	chr4:100482505..100484311-chr4:100728147..100731053,2	MCF-7	breast:
5	chr4:100482462..100485382-chr4:100814090..100816679,3	MCF-7	breast:
6	chr4:100483825..100487771-chr4:100493784..100496037,3	K562	blood:
7	chr4:100483475..100486481-chr4:100870338..100872441,3	MCF-7	breast:
8	chr4:100483825..100487294-chr4:100492777..100496037,4	K562	blood:
9	chr4:100010072..100012637-chr4:100483853..100485997,3	K562	blood:
10	chr4:100483327..100486538-chr4:100869980..100873651,6	K562	blood:

No data

Variant related genes	Relation type
MTTP	TF binding region
ENSG00000070190	Chromatin interaction
ENSG00000164031	Chromatin interaction
ENSG00000109270	Chromatin interaction
ENSG00000246090	Chromatin interaction
ENSG00000245322	Chromatin interaction
ENSG00000138823	Chromatin interaction
ENSG00000164032	Chromatin interaction

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10000018	0.85[EUR][1000 genomes]
rs10007794	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10008896	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10008928	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10009198	0.82[EUR][1000 genomes]
rs10013868	0.91[ASN][1000 genomes]
rs10013883	0.87[ASN][1000 genomes]
rs10019266	0.85[EUR][1000 genomes]
rs10020461	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10022775	0.91[ASN][1000 genomes]
rs10026790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10030937	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10031512	0.85[EUR][1000 genomes]
rs10516443	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10516444	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1054730	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1057615	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097668	0.97[ASN][1000 genomes]
rs11933250	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11933337	1.00[ASN][1000 genomes]
rs11933520	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11933937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11934921	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11935423	0.97[ASN][1000 genomes]
rs11935581	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11937107	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11937273	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11943031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11944749	1.00[ASN][1000 genomes]
rs11944750	0.91[ASN][1000 genomes]
rs11944752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11946292	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11946367	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11946658	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11947558	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1491235	0.85[EUR][1000 genomes]
rs1503774	0.84[EUR][1000 genomes]
rs1503777	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1503778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17029108	0.85[EUR][1000 genomes]
rs17029163	1.00[ASN][1000 genomes]
rs17531824	0.93[ASN][1000 genomes]
rs17598226	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1800591	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1800804	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1873517	0.82[EUR][1000 genomes]
rs2089079	0.84[EUR][1000 genomes]
rs2255119	0.92[ASN][1000 genomes]
rs2637768	0.95[ASN][1000 genomes]
rs2718684	0.95[ASN][1000 genomes]
rs28368786	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28376611	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28431971	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28435607	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28444681	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28473262	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28497720	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28500697	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2851225	0.95[ASN][1000 genomes]
rs28595160	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28608631	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28621060	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28647519	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2866164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28666735	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28678377	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28704064	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28789770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28849180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2903201	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3816873	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3817083	0.97[ASN][1000 genomes]
rs4423880	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs45440196	0.88[ASN][1000 genomes]
rs6532820	0.85[EUR][1000 genomes]
rs6815231	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6815416	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6825248	0.95[ASN][1000 genomes]
rs6839296	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6841211	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6841282	0.91[ASN][1000 genomes]
rs6854911	0.97[ASN][1000 genomes]
rs72681967	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7656665	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7661453	0.85[EUR][1000 genomes]
rs7661656	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7661964	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7686425	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7687762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7693203	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7693979	0.81[EUR][1000 genomes]
rs867380	0.84[EUR][1000 genomes]
rs867381	0.84[EUR][1000 genomes]
rs884274	0.84[EUR][1000 genomes]
rs9307240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9990558	0.82[EUR][1000 genomes]
rs9997840	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879656	chr4:99976646-100533722	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv933074	chr4:100460951-100630600	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100483400-100485800	Active TSS	A549	lung
2	chr4:100483600-100485600	Active TSS	Placenta	Placenta
3	chr4:100483600-100485800	Active TSS	Duodenum Mucosa	Duodenum
4	chr4:100483600-100485800	Active TSS	K562	blood
5	chr4:100483800-100484400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr4:100483800-100484400	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr4:100483800-100484400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
8	chr4:100483800-100484600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
9	chr4:100483800-100484600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr4:100483800-100484600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
11	chr4:100483800-100484800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:100483800-100485400	Active TSS	Liver	Liver
13	chr4:100483800-100485600	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr4:100483800-100485600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:100483800-100485600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:100483800-100485600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr4:100483800-100485600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:100483800-100485600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr4:100483800-100485600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:100483800-100485600	Active TSS	Fetal Intestine Small	intestine
21	chr4:100483800-100485600	Active TSS	Fetal Stomach	stomach
22	chr4:100483800-100485600	Active TSS	Rectal Smooth Muscle	rectum
23	chr4:100483800-100485800	Active TSS	H1 Cell Line	embryonic stem cell
24	chr4:100483800-100485800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:100483800-100485800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:100483800-100485800	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr4:100483800-100485800	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr4:100483800-100485800	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr4:100483800-100485800	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr4:100483800-100485800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:100483800-100485800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:100483800-100485800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr4:100483800-100485800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr4:100483800-100485800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:100483800-100485800	Active TSS	Fetal Intestine Large	intestine
36	chr4:100484000-100484400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr4:100484000-100484400	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr4:100484000-100484400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr4:100484000-100484400	Flanking Active TSS	Brain Angular Gyrus	brain
40	chr4:100484000-100484400	Flanking Active TSS	Brain Anterior Caudate	brain
41	chr4:100484000-100484400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr4:100484000-100484400	Flanking Active TSS	Fetal Muscle Trunk	muscle
43	chr4:100484000-100484400	Flanking Active TSS	Fetal Muscle Leg	muscle
44	chr4:100484000-100484400	Flanking Active TSS	Fetal Thymus	thymus
45	chr4:100484000-100484400	Flanking Active TSS	Pancreas	Pancrea
46	chr4:100484000-100484400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
47	chr4:100484000-100484400	Flanking Active TSS	Dnd41	blood
48	chr4:100484000-100484600	Flanking Active TSS	Primary B cells from peripheral blood	blood
49	chr4:100484000-100484600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
50	chr4:100484000-100484600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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