Variant report

Variant	rs2270886
Chromosome Location	chr11:16766106-16766107
allele	A/G
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	chr11:16765736-16766257	H1-hESC	embryonic stem cell:	n/a	chr11:16766091-16766100 chr11:16766091-16766100 chr11:16766089-16766100
2	POLR2A	chr11:16765070-16766120	GM12878	blood:	n/a	n/a
3	CEBPB	chr11:16765931-16766279	Hela-S3	cervix:	n/a	chr11:16766091-16766100 chr11:16766091-16766100 chr11:16766089-16766100
4	CEBPB	chr11:16765906-16766272	A549	lung:	n/a	chr11:16766091-16766100 chr11:16766091-16766100 chr11:16766089-16766100
5	POLR2A	chr11:16765700-16766445	HepG2	liver:	n/a	n/a
6	CEBPB	chr11:16765903-16766276	IMR90	lung:	n/a	chr11:16766091-16766100 chr11:16766091-16766100 chr11:16766089-16766100
7	CEBPB	chr11:16765913-16766226	K562	blood:	n/a	chr11:16766091-16766100 chr11:16766091-16766100 chr11:16766089-16766100
8	POLR2A	chr11:16765705-16766682	K562	blood:	n/a	n/a
9	CEBPB	chr11:16765902-16766253	HepG2	liver:	n/a	chr11:16766091-16766100 chr11:16766091-16766100 chr11:16766089-16766100
10	POLR2A	chr11:16765782-16766154	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
SOX6	TF binding region
C11orf58	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10766338	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10766342	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10832632	0.81[AMR][1000 genomes]
rs10832638	0.83[AMR][1000 genomes]
rs10832644	0.86[AMR][1000 genomes]
rs10832645	0.81[AMR][1000 genomes]
rs10832650	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10832651	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10832652	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10832676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10832677	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11023985	0.86[AMR][1000 genomes]
rs11023990	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11023991	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11024014	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11024030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11024032	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11024037	0.81[EUR][1000 genomes]
rs11529598	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11826990	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12223732	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12418941	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12421422	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12421640	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1392999	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1472589	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1532672	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3203295	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34952258	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4132991	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4237714	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4307685	0.83[AMR][1000 genomes]
rs4447141	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4756858	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4756861	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4757410	0.83[AMR][1000 genomes]
rs4757414	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4757425	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4757429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61881966	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61883867	0.83[AMR][1000 genomes]
rs61883868	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7481820	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9704273	0.83[AMR][1000 genomes]
rs981987	0.81[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	nsv553566	chr11:16329009-16799044	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 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	chr11:16761400-16783000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:16761600-16766800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:16761800-16767400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr11:16762000-16766800	Weak transcription	Fetal Kidney	kidney
5	chr11:16762000-16766800	Weak transcription	NHDF-Ad	bronchial
6	chr11:16762000-16767200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr11:16762000-16767400	Weak transcription	HSMMtube	muscle
8	chr11:16762000-16771800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:16762200-16766200	Weak transcription	Fetal Intestine Large	intestine
10	chr11:16762200-16766200	Weak transcription	HSMM	muscle
11	chr11:16762200-16766600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:16762200-16766600	Enhancers	Brain Anterior Caudate	brain
13	chr11:16762200-16767400	Weak transcription	NHLF	lung
14	chr11:16762200-16767600	Weak transcription	Brain Germinal Matrix	brain
15	chr11:16762200-16768800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:16762200-16771000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:16762200-16771000	Weak transcription	Right Ventricle	heart
18	chr11:16762200-16771200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr11:16762200-16780200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:16762800-16767000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:16763000-16766200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr11:16763000-16768800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
23	chr11:16763000-16780600	Strong transcription	Fetal Thymus	thymus
24	chr11:16763200-16766400	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr11:16763200-16766400	Weak transcription	NH-A	brain
26	chr11:16763200-16767600	Genic enhancers	Primary T cells from cord blood	blood
27	chr11:16763200-16767800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
28	chr11:16763200-16776600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:16763200-16780200	Strong transcription	Osteobl	bone
30	chr11:16763400-16766400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:16763400-16766400	Weak transcription	Small Intestine	intestine
32	chr11:16763400-16766800	Weak transcription	Fetal Muscle Leg	muscle
33	chr11:16763400-16767400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:16763400-16767400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:16763400-16768000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr11:16763400-16768200	Weak transcription	Esophagus	oesophagus
37	chr11:16763400-16768200	Weak transcription	Fetal Intestine Small	intestine
38	chr11:16763400-16769200	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr11:16763400-16769400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr11:16763400-16770000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:16763400-16771000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:16763400-16771000	Weak transcription	Aorta	Aorta
43	chr11:16763400-16771000	Weak transcription	Gastric	stomach
44	chr11:16763400-16771000	Weak transcription	Lung	lung
45	chr11:16763400-16771000	Weak transcription	Thymus	Thymus
46	chr11:16763400-16771000	Weak transcription	Spleen	Spleen
47	chr11:16763400-16773200	Weak transcription	Stomach Mucosa	stomach
48	chr11:16763400-16780400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr11:16763600-16766200	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr11:16763600-16766200	Weak transcription	Primary hematopoietic stem cells	blood

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