Variant report

Variant	rs2633080
Chromosome Location	chr11:47247560-47247561
allele	A/C
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	chr11:47247108-47247753	IMR90	lung:	n/a	chr11:47247248-47247259
2	YY1	chr11:47247244-47247569	K562	blood:	n/a	n/a
3	RUNX3	chr11:47247148-47247615	GM12878	blood:	n/a	n/a
4	CEBPB	chr11:47247551-47247814	A549	lung:	n/a	n/a
5	SPI1	chr11:47247146-47247604	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:47208508..47211092-chr11:47245771..47247789,2	MCF-7	breast:
2	chr11:47238223..47239745-chr11:47245693..47248680,2	K562	blood:
3	chr11:47245041..47247792-chr11:47251333..47254265,2	K562	blood:

Variant related genes	Relation type
ENSG00000256897	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10838663	1.00[CEU][hapmap]
rs11039144	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11039148	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11039155	0.84[EUR][1000 genomes]
rs12574081	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12574410	1.00[CEU][hapmap]
rs16938581	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2242261	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2242262	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2279238	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2290146	0.80[CEU][hapmap]
rs2306353	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2596397	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs2596398	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2633083	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2957873	0.84[CHB][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs326224	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3729802	0.82[CEU][hapmap]
rs3758670	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3781619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3781620	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3824866	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4647725	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4647726	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4647737	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4647741	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4647754	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4647757	0.86[AMR][1000 genomes]
rs4752965	1.00[CEU][hapmap]
rs4752972	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4752973	0.88[AMR][1000 genomes]
rs7118396	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7120158	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7395496	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7933246	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7947269	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs830083	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs830084	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2633080	ACP2	cis	Thyroid	GTEx
rs2633080	ACP2	Cis_1M	lymphoblastoid	RTeQTL
rs2633080	DDB2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47238400-47255800	Weak transcription	Brain Anterior Caudate	brain
2	chr11:47238400-47269400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:47238600-47247600	Weak transcription	Colonic Mucosa	Colon
4	chr11:47238600-47253800	Weak transcription	Aorta	Aorta
5	chr11:47238600-47254200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:47238600-47255400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr11:47238600-47255400	Weak transcription	Right Ventricle	heart
8	chr11:47238600-47255600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:47238600-47255800	Weak transcription	Brain Substantia Nigra	brain
10	chr11:47238600-47255800	Weak transcription	Right Atrium	heart
11	chr11:47238600-47256000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr11:47238600-47259600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:47238600-47261000	Weak transcription	Small Intestine	intestine
14	chr11:47238800-47254000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:47239400-47252200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:47239400-47252200	Strong transcription	Fetal Thymus	thymus
17	chr11:47239400-47255000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr11:47239600-47251800	Strong transcription	Fetal Stomach	stomach
19	chr11:47239800-47254200	Weak transcription	Lung	lung
20	chr11:47239800-47255600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr11:47239800-47255600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr11:47240000-47252400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr11:47240000-47260200	Weak transcription	Fetal Brain Female	brain
24	chr11:47240200-47254200	Weak transcription	Esophagus	oesophagus
25	chr11:47240200-47254200	Weak transcription	Stomach Mucosa	stomach
26	chr11:47240200-47254600	Weak transcription	Pancreas	Pancrea
27	chr11:47240200-47255400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr11:47240200-47255600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr11:47240200-47255800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr11:47240200-47256000	Weak transcription	Gastric	stomach
31	chr11:47240200-47266600	Weak transcription	Fetal Brain Male	brain
32	chr11:47240400-47255800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr11:47241400-47255600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr11:47241800-47254400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr11:47241800-47256000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:47242000-47248400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:47242000-47255800	Weak transcription	Left Ventricle	heart
38	chr11:47242200-47250600	Weak transcription	HSMMtube	muscle
39	chr11:47242200-47255400	Weak transcription	Brain Hippocampus Middle	brain
40	chr11:47242200-47258200	Weak transcription	Fetal Lung	lung
41	chr11:47242400-47247600	Weak transcription	Adipose Nuclei	Adipose
42	chr11:47242400-47247800	Weak transcription	Fetal Muscle Leg	muscle
43	chr11:47242400-47249000	Weak transcription	Ovary	ovary
44	chr11:47242400-47250600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr11:47242400-47254200	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr11:47242400-47256000	Weak transcription	Rectal Smooth Muscle	rectum
47	chr11:47242400-47257800	Weak transcription	K562	blood
48	chr11:47242400-47258000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:47242400-47258000	Weak transcription	Primary B cells from cord blood	blood
50	chr11:47242400-47269200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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