Variant report

Variant	rs11922033
Chromosome Location	chr3:150324322-150324323
allele	C/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	CEBPB	chr3:150324134-150324382	HepG2	liver:	n/a	chr3:150324260-150324273 chr3:150324260-150324271 chr3:150324261-150324272
2	CEBPB	chr3:150324096-150324397	IMR90	lung:	n/a	chr3:150324260-150324273 chr3:150324260-150324271 chr3:150324261-150324272
3	CEBPB	chr3:150323761-150324466	K562	blood:	n/a	chr3:150324260-150324273 chr3:150324260-150324271 chr3:150324261-150324272
4	BCLAF1	chr3:150323885-150324405	GM12878	blood:	n/a	n/a
5	CEBPB	chr3:150324293-150324363	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr3:150323714-150324383	K562	blood:	n/a	chr3:150324260-150324273 chr3:150324260-150324271 chr3:150324261-150324272
7	POLR2A	chr3:150323998-150324335	GM12878	blood:	n/a	n/a
8	RUNX3	chr3:150323845-150324418	GM12878	blood:	n/a	n/a
9	ATF2	chr3:150323796-150324452	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:150262614..150266370-chr3:150321478..150325578,8	K562	blood:
2	chr3:150260773..150268334-chr3:150317152..150324883,17	K562	blood:
3	chr3:150262051..150264965-chr3:150323680..150325279,2	MCF-7	breast:
4	chr3:150320056..150325236-chr3:150328045..150333634,6	MCF-7	breast:
5	chr3:150319130..150324790-chr3:150327939..150333389,12	K562	blood:
6	chr3:150259884..150269236-chr3:150319275..150325391,10	MCF-7	breast:
7	chr3:150319883..150326696-chr3:150327224..150333205,16	MCF-7	breast:
8	chr3:150324127..150327793-chr3:150419642..150423146,3	MCF-7	breast:
9	chr3:150319507..150322947-chr3:150323371..150327466,9	MCF-7	breast:

Variant related genes	Relation type
SERP1	TF binding region
ENSG00000198843	Chromatin interaction
ENSG00000120742	Chromatin interaction
ENSG00000163645	Chromatin interaction
ENSG00000271711	Chromatin interaction
ENSG00000144895	Chromatin interaction
ENSG00000240137	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11548666	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11921309	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11924919	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11927175	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11927998	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11929205	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12107730	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17214539	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17214746	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17440940	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1915945	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1965473	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2030530	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2293150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2293151	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55707430	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55723846	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56208302	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56217437	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59885545	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60142519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61019785	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61667461	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73001317	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73001332	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73001341	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73001347	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73001362	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73001363	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73001365	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73003042	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7430992	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7650013	0.87[EUR][1000 genomes];0.90[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	nsv532662	chr3:150180747-150633414	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 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	chr3:150321600-150324400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr3:150322000-150324400	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr3:150322000-150325200	Weak transcription	Spleen	Spleen
4	chr3:150322200-150324400	Weak transcription	Aorta	Aorta
5	chr3:150322200-150325200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:150322200-150325200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr3:150322200-150325200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:150322200-150325200	Weak transcription	Brain Substantia Nigra	brain
9	chr3:150322200-150325200	Weak transcription	Esophagus	oesophagus
10	chr3:150322200-150327000	Weak transcription	Lung	lung
11	chr3:150322200-150329400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:150322200-150336400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:150322200-150347000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr3:150322400-150324400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr3:150322400-150324800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr3:150322400-150325000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr3:150322400-150325200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr3:150322400-150325200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr3:150322400-150325200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr3:150322400-150325200	Enhancers	Primary B cells from peripheral blood	blood
21	chr3:150322400-150325200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr3:150322400-150325200	Weak transcription	Psoas Muscle	Psoas
23	chr3:150322400-150325400	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr3:150322400-150326000	Enhancers	Brain Hippocampus Middle	brain
25	chr3:150322400-150326400	Weak transcription	Fetal Brain Female	brain
26	chr3:150322400-150329000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr3:150322400-150336200	Weak transcription	Fetal Kidney	kidney
28	chr3:150322400-150344000	Weak transcription	HSMMtube	muscle
29	chr3:150322400-150350800	Weak transcription	Colonic Mucosa	Colon
30	chr3:150322400-150353000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr3:150322600-150324600	Enhancers	Brain Cingulate Gyrus	brain
32	chr3:150322600-150324600	Weak transcription	Stomach Mucosa	stomach
33	chr3:150322600-150325000	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr3:150322600-150327000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr3:150322600-150329400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr3:150322600-150329400	Weak transcription	Fetal Stomach	stomach
37	chr3:150322600-150329600	Weak transcription	Fetal Intestine Large	intestine
38	chr3:150322600-150329600	Weak transcription	Placenta	Placenta
39	chr3:150322800-150324600	Enhancers	Stomach Smooth Muscle	stomach
40	chr3:150322800-150325200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr3:150322800-150326800	Weak transcription	Right Ventricle	heart
42	chr3:150322800-150329600	Weak transcription	Fetal Muscle Trunk	muscle
43	chr3:150322800-150329600	Weak transcription	Fetal Muscle Leg	muscle
44	chr3:150322800-150341200	Weak transcription	HSMM	muscle
45	chr3:150323000-150324400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr3:150323000-150325000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr3:150323000-150325000	Enhancers	HepG2	liver
48	chr3:150323000-150325400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr3:150323000-150341200	Weak transcription	Adipose Nuclei	Adipose
50	chr3:150323000-150343800	Weak transcription	HMEC	breast

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