Variant report

Variant	rs2605603
Chromosome Location	chr11:93221105-93221106
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:93220240..93222111-chr11:93226701..93229455,2	K562	blood:
2	chr11:93212866..93215130-chr11:93219909..93223187,3	K562	blood:
3	chr11:93220502..93222563-chr11:93243476..93246294,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10831051	0.89[CEU][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11020387	0.84[CHD][hapmap]
rs11020388	0.84[CHD][hapmap]
rs11020394	0.82[ASN][1000 genomes]
rs2045460	0.95[EUR][1000 genomes]
rs2605593	0.97[EUR][1000 genomes]
rs2605596	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2605604	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2658797	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2658799	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7111773	0.88[CHD][hapmap]
rs7365	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7928401	0.80[CHD][hapmap]

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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2605603	C11orf75	cis	multi-tissue	Pritchard
rs2605603	HEPHL1	cis	parietal	SCAN
rs2605603	SESN3	cis	parietal	SCAN

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93207000-93239000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr11:93208200-93223200	Weak transcription	GM12878-XiMat	blood
3	chr11:93209000-93231400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:93209000-93235200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:93209200-93229200	Weak transcription	Dnd41	blood
6	chr11:93209600-93229400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr11:93210600-93231600	Weak transcription	A549	lung
8	chr11:93211000-93225800	Weak transcription	Thymus	Thymus
9	chr11:93211000-93253400	Weak transcription	Primary T cells from cord blood	blood
10	chr11:93211200-93222000	Weak transcription	Adipose Nuclei	Adipose
11	chr11:93211600-93223000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:93211600-93243800	Weak transcription	Fetal Thymus	thymus
13	chr11:93212200-93221200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:93212200-93222800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:93212200-93234800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:93212400-93222600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr11:93212400-93225800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:93213000-93221200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr11:93213000-93221400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:93214400-93221200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr11:93214800-93234400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr11:93215200-93221800	Weak transcription	Gastric	stomach
23	chr11:93215200-93225400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr11:93215400-93222600	Enhancers	Fetal Lung	lung
25	chr11:93215600-93225800	Weak transcription	Colonic Mucosa	Colon
26	chr11:93215600-93226000	Weak transcription	Stomach Mucosa	stomach
27	chr11:93216000-93221800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:93216000-93224600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr11:93216600-93228600	Enhancers	Liver	Liver
30	chr11:93216800-93221800	Weak transcription	Spleen	Spleen
31	chr11:93217000-93224000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr11:93217200-93226000	Enhancers	H1 Cell Line	embryonic stem cell
33	chr11:93218600-93223000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:93218600-93223400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:93218600-93254400	Weak transcription	Hela-S3	cervix
36	chr11:93218800-93231800	Weak transcription	Ovary	ovary
37	chr11:93218800-93238200	Weak transcription	Esophagus	oesophagus
38	chr11:93218800-93245800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr11:93219200-93223200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:93219200-93223400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr11:93219200-93224000	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr11:93219200-93224400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:93219400-93222400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:93219400-93225800	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr11:93219600-93222000	Genic enhancers	Fetal Stomach	stomach
46	chr11:93219800-93221200	Weak transcription	Placenta	Placenta
47	chr11:93219800-93227600	Weak transcription	Right Ventricle	heart
48	chr11:93220000-93221600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:93220000-93222200	Weak transcription	Lung	lung
50	chr11:93220000-93223200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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