Variant report

Variant	rs620080
Chromosome Location	chr11:104822177-104822178
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1944908	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs55694103	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7105050	0.86[JPT][hapmap]
rs7105346	0.88[EUR][1000 genomes]
rs7125155	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72978947	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046098	chr11:104207210-105003661	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv531430	chr11:104380924-105194452	Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv832255	chr11:104674918-104846961	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv898355	chr11:104730322-104897843	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv1040784	chr11:104763797-104855878	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv468862	chr11:104774014-105243371	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription 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	15 gene(s)	inside rSNPs	diseases
7	nsv556218	chr11:104774014-105243371	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription 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	15 gene(s)	inside rSNPs	diseases
8	nsv898356	chr11:104779195-104838471	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
9	esv3385159	chr11:104786549-105051555	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
10	nsv1041081	chr11:104797775-104912458	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
11	nsv1044970	chr11:104809246-105225032	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
12	nsv541160	chr11:104809246-105225032	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104812000-104825200	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr11:104812600-104825600	Strong transcription	Placenta	Placenta
3	chr11:104812600-104826800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr11:104812800-104825600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr11:104812800-104825600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:104812800-104825600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr11:104812800-104825600	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr11:104812800-104826200	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr11:104812800-104826600	Strong transcription	Primary hematopoietic stem cells	blood
10	chr11:104812800-104829200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:104812800-104831800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:104813000-104825400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr11:104813000-104825600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:104813000-104825800	Strong transcription	Dnd41	blood
15	chr11:104813200-104825400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr11:104813200-104825400	Strong transcription	Adipose Nuclei	Adipose
17	chr11:104813200-104825600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr11:104813200-104825800	Strong transcription	Primary T cells from cord blood	blood
19	chr11:104813200-104825800	Strong transcription	Duodenum Mucosa	Duodenum
20	chr11:104813600-104825200	Strong transcription	Ovary	ovary
21	chr11:104813600-104825800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:104813600-104825800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:104813800-104826800	Strong transcription	Primary B cells from cord blood	blood
24	chr11:104813800-104837200	Weak transcription	Colon Smooth Muscle	Colon
25	chr11:104814000-104822800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr11:104814000-104838200	Weak transcription	Fetal Kidney	kidney
27	chr11:104814400-104825200	Weak transcription	Fetal Heart	heart
28	chr11:104814400-104825600	Strong transcription	Fetal Muscle Leg	muscle
29	chr11:104814800-104825800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr11:104815400-104825800	Strong transcription	NHEK	skin
31	chr11:104815600-104824200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:104815800-104823800	Strong transcription	Liver	Liver
33	chr11:104816600-104825800	Strong transcription	HUVEC	blood vessel
34	chr11:104816600-104826600	Weak transcription	Stomach Mucosa	stomach
35	chr11:104816800-104825600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:104816800-104825600	Strong transcription	Fetal Thymus	thymus
37	chr11:104817000-104825600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr11:104817400-104823000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr11:104817600-104826000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr11:104817800-104825600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr11:104817800-104837000	Weak transcription	Right Ventricle	heart
42	chr11:104818000-104823400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:104818000-104825400	Strong transcription	Left Ventricle	heart
44	chr11:104818000-104825400	Strong transcription	GM12878-XiMat	blood
45	chr11:104818000-104827000	Strong transcription	NHLF	lung
46	chr11:104818200-104822200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr11:104818200-104825200	Strong transcription	Osteobl	bone
48	chr11:104818200-104825600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr11:104818200-104825600	Strong transcription	Fetal Intestine Large	intestine
50	chr11:104818200-104825800	Strong transcription	Duodenum Smooth Muscle	Duodenum

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