Variant report

Variant	rs4498988
Chromosome Location	chr11:9904389-9904390
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10770072	0.81[ASN][1000 genomes]
rs10770074	0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10840316	0.86[YRI][hapmap];0.87[AFR][1000 genomes]
rs10840328	0.80[AMR][1000 genomes]
rs11042549	1.00[JPT][hapmap]
rs12099354	0.87[EUR][1000 genomes]
rs12360818	0.90[CEU][hapmap];0.92[JPT][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12365540	0.94[AFR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12365901	0.91[EUR][1000 genomes]
rs12796169	0.89[CEU][hapmap];0.91[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12800780	0.87[YRI][hapmap];0.88[AFR][1000 genomes]
rs1546541	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1546542	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1913159	0.84[AMR][1000 genomes]
rs35396321	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4334006	0.94[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs4445629	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4616018	0.84[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes]
rs4910073	0.86[AFR][1000 genomes]
rs4910076	0.94[CEU][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs4910082	1.00[JPT][hapmap]
rs4910083	1.00[JPT][hapmap]
rs6483809	0.91[JPT][hapmap]
rs6483811	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs67701335	0.91[EUR][1000 genomes]
rs7102482	1.00[JPT][hapmap];0.84[AMR][1000 genomes]
rs7105337	0.91[JPT][hapmap]
rs7107328	0.94[CEU][hapmap];0.85[EUR][1000 genomes]
rs7112830	0.81[CEU][hapmap]
rs7125054	1.00[JPT][hapmap];0.86[AMR][1000 genomes]
rs7126063	0.90[CEU][hapmap];0.92[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs7130681	0.91[JPT][hapmap]
rs7130923	0.92[JPT][hapmap]
rs7131516	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7350496	0.89[EUR][1000 genomes]
rs7925651	0.82[EUR][1000 genomes]
rs7929338	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs7930281	0.89[CEU][hapmap];0.91[JPT][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs7948688	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs9919605	0.91[JPT][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9919609	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9919617	0.90[AFR][1000 genomes];0.81[EUR][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	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv3384280	chr11:9766350-9911228	Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	esv2762895	chr11:9849511-9954549	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9878400-9916200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr11:9878800-9952200	Weak transcription	Aorta	Aorta
3	chr11:9880200-9913200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr11:9880600-9914800	Weak transcription	Placenta	Placenta
5	chr11:9882400-9929600	Weak transcription	Primary T cells from cord blood	blood
6	chr11:9884800-9905400	Weak transcription	NHLF	lung
7	chr11:9885800-9905600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr11:9890600-9915200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:9891400-9916800	Weak transcription	Primary B cells from cord blood	blood
10	chr11:9891800-9916600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr11:9892200-9914600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr11:9892400-9914400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:9892400-9914600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr11:9892400-9921200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:9894000-9910600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:9894200-9915200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr11:9894400-9907400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:9894400-9916600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr11:9894400-9978600	Weak transcription	Left Ventricle	heart
20	chr11:9897000-9915000	Weak transcription	HSMMtube	muscle
21	chr11:9897400-9909000	Weak transcription	Psoas Muscle	Psoas
22	chr11:9897800-9910000	Weak transcription	Fetal Kidney	kidney
23	chr11:9898200-9914800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:9898200-9917000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr11:9898400-9913800	Weak transcription	Fetal Stomach	stomach
26	chr11:9898600-9914800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr11:9898800-9915200	Weak transcription	Fetal Intestine Small	intestine
28	chr11:9899400-9915000	Weak transcription	Liver	Liver
29	chr11:9900600-9915000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr11:9901200-9905400	Weak transcription	NHDF-Ad	bronchial
31	chr11:9901200-9915000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr11:9901200-9916600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:9902200-9917400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr11:9902400-9913000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:9903400-9915000	Weak transcription	Fetal Muscle Leg	muscle
36	chr11:9903600-9905400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:9903600-9905600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:9903600-9906000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:9903600-9915200	Weak transcription	Ovary	ovary
40	chr11:9903600-9916600	Weak transcription	Fetal Lung	lung
41	chr11:9903800-9909000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr11:9903800-9914600	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr11:9904000-9905400	Weak transcription	A549	lung
44	chr11:9904000-9937000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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