Variant report

Variant	rs17261845
Chromosome Location	chr2:128223757-128223758
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	USF1	chr2:128223700-128224072	K562	blood:	n/a	chr2:128223885-128223896
2	POLR2A	chr2:128223722-128223790	GM12878	blood:	n/a	n/a
3	USF1	chr2:128223715-128224033	ECC-1	luminal epithelium:	n/a	chr2:128223885-128223896

No.	Distal block	Cell Line	Cell type
1	chr2:128223739..128227371-chr2:128227403..128230155,4	K562	blood:
2	chr2:128221686..128223814-chr2:128225539..128227819,2	MCF-7	breast:
3	chr2:128223739..128227156-chr2:128228484..128231083,5	K562	blood:

Variant related genes	Relation type
ENSG00000231731	TF binding region
ENSG00000202429	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1011019	1.00[CHB][hapmap]
rs10177052	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1019842	1.00[ASN][1000 genomes]
rs10496661	1.00[ASN][1000 genomes]
rs10803587	1.00[CHB][hapmap]
rs10803589	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10850	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11679414	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11680877	1.00[ASN][1000 genomes]
rs11683986	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11691916	1.00[ASN][1000 genomes]
rs11692990	1.00[ASN][1000 genomes]
rs13030463	1.00[ASN][1000 genomes]
rs1518760	1.00[ASN][1000 genomes]
rs1568278	1.00[ASN][1000 genomes]
rs17261859	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1820969	1.00[ASN][1000 genomes]
rs1864552	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1864554	1.00[ASN][1000 genomes]
rs2052954	1.00[ASN][1000 genomes]
rs2069895	1.00[ASN][1000 genomes]
rs2069898	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2069902	1.00[ASN][1000 genomes]
rs2069904	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2069919	1.00[ASN][1000 genomes]
rs2163345	1.00[ASN][1000 genomes]
rs2163348	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2460106	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2679409	0.87[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2896979	1.00[ASN][1000 genomes]
rs334137	0.85[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs334138	0.86[CEU][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs334143	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs334144	0.87[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs334146	0.87[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs334151	0.85[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs334152	0.87[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs334154	0.88[AMR][1000 genomes]
rs334156	0.87[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs334157	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs334158	0.85[CEU][hapmap];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs334159	0.86[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs334160	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3893897	1.00[ASN][1000 genomes]
rs3958415	1.00[ASN][1000 genomes]
rs4150400	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4150402	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4150416	1.00[ASN][1000 genomes]
rs4150471	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4150474	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4150499	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4150523	1.00[ASN][1000 genomes]
rs4662718	1.00[ASN][1000 genomes]
rs4662719	1.00[ASN][1000 genomes]
rs4662720	1.00[ASN][1000 genomes]
rs4662736	1.00[ASN][1000 genomes]
rs55998444	1.00[ASN][1000 genomes]
rs56273408	1.00[ASN][1000 genomes]
rs5937	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs59378658	1.00[ASN][1000 genomes]
rs61422716	1.00[ASN][1000 genomes]
rs6430938	1.00[ASN][1000 genomes]
rs6756535	1.00[ASN][1000 genomes]
rs72845944	1.00[ASN][1000 genomes]
rs72845975	1.00[ASN][1000 genomes]
rs72845976	1.00[ASN][1000 genomes]
rs72845991	1.00[ASN][1000 genomes]
rs72845993	1.00[ASN][1000 genomes]
rs72845997	1.00[ASN][1000 genomes]
rs72846002	1.00[ASN][1000 genomes]
rs72848604	1.00[ASN][1000 genomes]
rs72848612	1.00[ASN][1000 genomes]
rs72848615	1.00[ASN][1000 genomes]
rs72848616	1.00[ASN][1000 genomes]
rs72848618	1.00[ASN][1000 genomes]
rs7556675	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7562428	1.00[ASN][1000 genomes]
rs7582598	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7607907	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs777554	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs777569	0.87[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9287540	0.90[CEU][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875014	chr2:128178415-128328375	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	esv3458275	chr2:128223577-128225946	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv3458278	chr2:128223611-128225916	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3458277	chr2:128223628-128225864	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3458276	chr2:128223678-128225829	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3458279	chr2:128223692-128225828	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv11314	chr2:128223693-128225835	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128204800-128225600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr2:128205400-128223800	Weak transcription	Placenta	Placenta
3	chr2:128205800-128223800	Weak transcription	Lung	lung
4	chr2:128206000-128224000	Weak transcription	Psoas Muscle	Psoas
5	chr2:128206200-128237800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:128206800-128233600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:128208400-128238800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:128208800-128226000	Weak transcription	Brain Anterior Caudate	brain
9	chr2:128209000-128238000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:128209200-128225400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr2:128209200-128237600	Weak transcription	Adipose Nuclei	Adipose
12	chr2:128210000-128226400	Weak transcription	Esophagus	oesophagus
13	chr2:128210000-128227200	Weak transcription	Left Ventricle	heart
14	chr2:128210000-128237600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr2:128210200-128238000	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:128210600-128225200	Weak transcription	Primary B cells from peripheral blood	blood
17	chr2:128211200-128225400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr2:128211200-128225600	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr2:128211400-128226600	Weak transcription	Ovary	ovary
20	chr2:128211600-128226800	Weak transcription	Brain Angular Gyrus	brain
21	chr2:128211600-128227000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:128211600-128237600	Weak transcription	Right Ventricle	heart
23	chr2:128212200-128226800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr2:128213000-128223800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr2:128213000-128237600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr2:128213200-128225400	Weak transcription	Dnd41	blood
27	chr2:128213200-128237800	Weak transcription	Colonic Mucosa	Colon
28	chr2:128213400-128237800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr2:128213600-128225200	Weak transcription	A549	lung
30	chr2:128213600-128225400	Weak transcription	Pancreas	Pancrea
31	chr2:128213600-128226600	Weak transcription	Gastric	stomach
32	chr2:128213600-128237600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:128213600-128237800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr2:128213800-128238000	Weak transcription	Brain Germinal Matrix	brain
35	chr2:128215400-128225200	Weak transcription	Liver	Liver
36	chr2:128215400-128226800	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr2:128216200-128233600	Weak transcription	GM12878-XiMat	blood
38	chr2:128219800-128237600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:128220400-128239800	Weak transcription	Fetal Lung	lung
40	chr2:128221200-128224400	Enhancers	Fetal Intestine Large	intestine
41	chr2:128221400-128226600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr2:128221600-128224800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:128221600-128226600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:128221600-128226800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:128221600-128227000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:128221600-128229000	Weak transcription	HepG2	liver
47	chr2:128221600-128230200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:128221600-128237400	Weak transcription	HSMM	muscle
49	chr2:128221600-128237600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:128222000-128224000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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