Variant report

Variant	rs2605619
Chromosome Location	chr11:93244731-93244732
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93220502..93222563-chr11:93243476..93246294,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1811530	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1967993	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2252326	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2605613	0.85[EUR][1000 genomes]
rs2605630	0.86[ASN][1000 genomes]
rs2608271	0.86[ASN][1000 genomes]
rs2658765	0.85[EUR][1000 genomes];0.89[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:45 , 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	chr11:93218800-93245800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr11:93225600-93248800	Weak transcription	Fetal Muscle Leg	muscle
5	chr11:93226400-93257400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr11:93227200-93257600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:93228200-93248200	Weak transcription	Brain Hippocampus Middle	brain
8	chr11:93232400-93245200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:93232800-93245800	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr11:93232800-93248800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:93233000-93248800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr11:93233000-93248800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr11:93233000-93257400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr11:93233400-93248600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr11:93234800-93250400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr11:93235200-93250200	Weak transcription	Aorta	Aorta
17	chr11:93235400-93257800	Weak transcription	Gastric	stomach
18	chr11:93235600-93258800	Weak transcription	Small Intestine	intestine
19	chr11:93235800-93252600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr11:93237000-93248800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:93238400-93248400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr11:93238400-93259000	Weak transcription	Fetal Lung	lung
23	chr11:93238600-93248800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:93239400-93245800	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr11:93239600-93255600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:93241000-93252400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr11:93241000-93254200	Weak transcription	HepG2	liver
28	chr11:93241800-93257400	Weak transcription	Fetal Intestine Large	intestine
29	chr11:93242000-93244800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr11:93242200-93247600	Weak transcription	Fetal Stomach	stomach
31	chr11:93243200-93252200	Weak transcription	Dnd41	blood
32	chr11:93243400-93248800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:93243400-93250000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr11:93243800-93244800	Enhancers	Liver	Liver
35	chr11:93243800-93248600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr11:93243800-93255600	Weak transcription	Fetal Intestine Small	intestine
37	chr11:93244000-93246000	Weak transcription	Spleen	Spleen
38	chr11:93244000-93248800	Weak transcription	Right Ventricle	heart
39	chr11:93244000-93254400	Weak transcription	Pancreas	Pancrea
40	chr11:93244200-93253800	Weak transcription	Primary hematopoietic stem cells	blood
41	chr11:93244600-93244800	Weak transcription	Right Atrium	heart
42	chr11:93244600-93246800	Flanking Active TSS	GM12878-XiMat	blood
43	chr11:93244600-93248800	Weak transcription	Fetal Thymus	thymus
44	chr11:93244600-93248800	Weak transcription	Left Ventricle	heart
45	chr11:93244600-93248800	Weak transcription	Lung	lung

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