Variant report

Variant	rs28370551
Chromosome Location	chr4:106634271-106634272
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr4:106633996-106634376	MCF10A-Er-Src	breast:	n/a	n/a
2	EP300	chr4:106633749-106634484	SK-N-SH	brain:	n/a	n/a
3	FOS	chr4:106634001-106634313	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr4:106633975-106634378	MCF10A-Er-Src	breast:	n/a	n/a
5	EP300	chr4:106633908-106634311	SK-N-SH_RA	brain:	n/a	n/a
6	TCF12	chr4:106633763-106634520	SK-N-SH	brain:	n/a	n/a
7	JUND	chr4:106633839-106634473	SK-N-SH	brain:	n/a	n/a
8	GATA3	chr4:106633830-106634431	SK-N-SH	brain:	n/a	n/a
9	PBX3	chr4:106633741-106634421	SK-N-SH	brain:	n/a	n/a
10	EP300	chr4:106633934-106634300	SK-N-SH_RA	brain:	n/a	n/a
11	PBX3	chr4:106633854-106634405	SK-N-SH	brain:	n/a	n/a
12	GATA3	chr4:106633709-106634537	SK-N-SH	brain:	n/a	n/a
13	TCF12	chr4:106633712-106634503	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr4:106634088-106634673	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr4:106633882-106634288	SK-N-SH	brain:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:106632797..106635394-chr4:106700373..106702520,2	K562	blood:
2	chr4:106633490..106635056-chr4:106635554..106638378,2	K562	blood:
3	chr4:106629625..106631296-chr4:106632888..106634578,2	MCF-7	breast:
4	chr4:106628554..106633489-chr4:106634205..106639726,8	K562	blood:

No data

Variant related genes	Relation type
GSTCD	TF binding region
INTS12	TF binding region
ENSG00000138780	Chromatin interaction
ENSG00000138785	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10019217	0.85[ASN][1000 genomes]
rs10030620	0.80[ASN][1000 genomes]
rs10049527	0.82[ASN][1000 genomes]
rs10516522	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11930244	0.87[ASN][1000 genomes]
rs11930965	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11936611	0.82[ASN][1000 genomes]
rs12504088	0.95[ASN][1000 genomes]
rs12511885	0.95[ASN][1000 genomes]
rs12512339	0.90[ASN][1000 genomes]
rs13110070	0.85[ASN][1000 genomes]
rs13145251	0.83[ASN][1000 genomes]
rs17036093	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17036097	0.97[ASN][1000 genomes]
rs17036102	1.00[ASN][1000 genomes]
rs17036158	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17036254	0.82[ASN][1000 genomes]
rs2193852	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2193853	0.92[ASN][1000 genomes]
rs28391170	1.00[ASN][1000 genomes]
rs28450989	1.00[ASN][1000 genomes]
rs28559909	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28698939	0.85[ASN][1000 genomes]
rs3796926	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4235415	0.87[ASN][1000 genomes]
rs4490460	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4698950	0.93[ASN][1000 genomes]
rs4698951	0.92[ASN][1000 genomes]
rs4699192	0.85[ASN][1000 genomes]
rs4699193	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699194	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699195	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699197	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699198	1.00[ASN][1000 genomes]
rs4699199	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58388061	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58914657	0.83[ASN][1000 genomes]
rs59961848	0.84[ASN][1000 genomes]
rs60774107	0.81[AFR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60861135	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6817029	0.88[ASN][1000 genomes]
rs6820671	1.00[ASN][1000 genomes]
rs6825379	0.82[ASN][1000 genomes]
rs6826631	0.82[ASN][1000 genomes]
rs6843771	0.82[ASN][1000 genomes]
rs7658055	0.82[ASN][1000 genomes]
rs7659526	1.00[ASN][1000 genomes]
rs7665588	0.92[ASN][1000 genomes]
rs7696836	0.85[ASN][1000 genomes]
rs7697619	0.95[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	nsv879699	chr4:106212562-106698892	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106630600-106641800	Weak transcription	Lung	lung
2	chr4:106630600-106642800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:106630600-106650600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:106630600-106656200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:106630600-106656200	Weak transcription	Esophagus	oesophagus
6	chr4:106630800-106634400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr4:106630800-106634600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr4:106630800-106635200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr4:106630800-106635200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr4:106630800-106635400	Weak transcription	Aorta	Aorta
11	chr4:106630800-106640000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr4:106630800-106640000	Weak transcription	Placenta	Placenta
13	chr4:106630800-106640400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr4:106630800-106640600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr4:106630800-106648000	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr4:106630800-106649200	Weak transcription	Small Intestine	intestine
17	chr4:106630800-106656000	Weak transcription	Ovary	ovary
18	chr4:106630800-106656200	Weak transcription	Left Ventricle	heart
19	chr4:106630800-106656200	Weak transcription	Thymus	Thymus
20	chr4:106630800-106658400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr4:106631000-106635000	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr4:106631000-106635200	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr4:106631000-106635400	Weak transcription	Psoas Muscle	Psoas
24	chr4:106631000-106639000	Weak transcription	Fetal Thymus	thymus
25	chr4:106631000-106640000	Weak transcription	Fetal Muscle Leg	muscle
26	chr4:106631000-106640000	Weak transcription	Fetal Stomach	stomach
27	chr4:106631000-106640200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr4:106631000-106640200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr4:106631000-106640400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr4:106631000-106643000	Weak transcription	Colonic Mucosa	Colon
31	chr4:106631000-106648800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr4:106631000-106648800	Weak transcription	Brain Germinal Matrix	brain
33	chr4:106631000-106650600	Weak transcription	Fetal Brain Female	brain
34	chr4:106631000-106654600	Weak transcription	Fetal Intestine Large	intestine
35	chr4:106631000-106656000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr4:106631000-106656200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr4:106631000-106658200	Weak transcription	Right Ventricle	heart
38	chr4:106631000-106659000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr4:106631000-106663000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr4:106631000-106669400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr4:106631200-106634400	Weak transcription	NH-A	brain
42	chr4:106631200-106635000	Weak transcription	Primary B cells from cord blood	blood
43	chr4:106631200-106635200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr4:106631200-106635200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr4:106631200-106638800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:106631200-106639400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr4:106631200-106640400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr4:106631200-106640400	Weak transcription	Adipose Nuclei	Adipose
49	chr4:106631200-106641000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr4:106631200-106651800	Weak transcription	Primary T helper cells fromperipheralblood	blood

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