Variant report

Variant	rs2399672
Chromosome Location	chr11:93247139-93247140
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93246116..93247653-chr11:93249759..93251907,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10831054	0.82[AMR][1000 genomes]
rs12417512	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12419415	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12419851	0.93[CHB][hapmap];0.81[CHD][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12421788	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12792233	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16919027	0.92[JPT][hapmap];0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2305662	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3794005	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4753466	0.90[MEX][hapmap]
rs60912147	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7935607	0.98[ASN][1000 genomes]
rs975606	0.85[CHB][hapmap];0.92[JPT][hapmap];0.98[ASN][1000 genomes]
rs988225	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1039623	chr11:93141461-93328739	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	esv2760208	chr11:93172673-93266594	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93211000-93253400	Weak transcription	Primary T cells from cord blood	blood
2	chr11:93218600-93254400	Weak transcription	Hela-S3	cervix
3	chr11:93225600-93248800	Weak transcription	Fetal Muscle Leg	muscle
4	chr11:93226400-93257400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr11:93227200-93257600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:93228200-93248200	Weak transcription	Brain Hippocampus Middle	brain
7	chr11:93232800-93248800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:93233000-93248800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr11:93233000-93248800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr11:93233000-93257400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr11:93233400-93248600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr11:93234800-93250400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr11:93235200-93250200	Weak transcription	Aorta	Aorta
14	chr11:93235400-93257800	Weak transcription	Gastric	stomach
15	chr11:93235600-93258800	Weak transcription	Small Intestine	intestine
16	chr11:93235800-93252600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr11:93237000-93248800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:93238400-93248400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr11:93238400-93259000	Weak transcription	Fetal Lung	lung
20	chr11:93238600-93248800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:93239600-93255600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr11:93241000-93252400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr11:93241000-93254200	Weak transcription	HepG2	liver
24	chr11:93241800-93257400	Weak transcription	Fetal Intestine Large	intestine
25	chr11:93242200-93247600	Weak transcription	Fetal Stomach	stomach
26	chr11:93243200-93252200	Weak transcription	Dnd41	blood
27	chr11:93243400-93248800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:93243400-93250000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr11:93243800-93248600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr11:93243800-93255600	Weak transcription	Fetal Intestine Small	intestine
31	chr11:93244000-93248800	Weak transcription	Right Ventricle	heart
32	chr11:93244000-93254400	Weak transcription	Pancreas	Pancrea
33	chr11:93244200-93253800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr11:93244600-93248800	Weak transcription	Fetal Thymus	thymus
35	chr11:93244600-93248800	Weak transcription	Left Ventricle	heart
36	chr11:93244600-93248800	Weak transcription	Lung	lung
37	chr11:93244800-93248400	Weak transcription	Liver	Liver
38	chr11:93244800-93254000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr11:93246400-93250200	Weak transcription	Primary B cells from peripheral blood	blood
40	chr11:93246800-93247400	Genic enhancers	GM12878-XiMat	blood
41	chr11:93246800-93248400	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr11:93246800-93248800	Weak transcription	Spleen	Spleen
43	chr11:93247000-93248000	Weak transcription	Primary monocytes fromperipheralblood	blood

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