Variant report

Variant	rs554257708
Chromosome Location	chr11:104787632-104787633
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv1054456	chr11:104358924-104805251	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	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
4	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
5	esv2757474	chr11:104719593-104798545	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2759862	chr11:104719593-104798545	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	esv3334824	chr11:104776753-104813836	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
12	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
13	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
14	esv3356969	chr11:104786594-104803934	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv983232	chr11:104787454-104809055	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104769200-104787800	Weak transcription	Fetal Lung	lung
2	chr11:104769600-104788000	Weak transcription	Fetal Stomach	stomach
3	chr11:104778400-104788800	Weak transcription	Pancreas	Pancrea
4	chr11:104779200-104788000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr11:104783800-104788000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr11:104785600-104788000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr11:104786000-104788000	Enhancers	Primary B cells from peripheral blood	blood
8	chr11:104786600-104788200	Enhancers	Primary T cells from cord blood	blood
9	chr11:104786800-104787800	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr11:104786800-104787800	Enhancers	Dnd41	blood
11	chr11:104786800-104788000	Enhancers	Adipose Nuclei	Adipose
12	chr11:104786800-104789400	Flanking Active TSS	HUVEC	blood vessel
13	chr11:104786800-104789800	Active TSS	Aorta	Aorta
14	chr11:104787000-104787800	Enhancers	NHDF-Ad	bronchial
15	chr11:104787000-104788000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr11:104787000-104788200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr11:104787000-104788600	Weak transcription	Left Ventricle	heart
18	chr11:104787000-104788600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr11:104787000-104788600	Weak transcription	Small Intestine	intestine
20	chr11:104787000-104789200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr11:104787000-104789400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:104787000-104789600	Active TSS	Primary T cells fromperipheralblood	blood
23	chr11:104787000-104789600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr11:104787200-104787800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr11:104787200-104787800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr11:104787200-104787800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr11:104787200-104787800	Enhancers	Rectal Smooth Muscle	rectum
28	chr11:104787200-104788000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:104787200-104788200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:104787200-104788400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr11:104787200-104788400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:104787200-104789400	Active TSS	Ovary	ovary
33	chr11:104787200-104789600	Active TSS	Duodenum Mucosa	Duodenum
34	chr11:104787400-104787800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr11:104787400-104787800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr11:104787400-104788000	Weak transcription	NHLF	lung
37	chr11:104787400-104788200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr11:104787400-104788200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr11:104787400-104788200	Enhancers	Colon Smooth Muscle	Colon
40	chr11:104787400-104788400	Enhancers	Primary B cells from cord blood	blood
41	chr11:104787400-104789400	Active TSS	Stomach Smooth Muscle	stomach
42	chr11:104787400-104789600	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr11:104787400-104789600	Active TSS	Right Atrium	heart
44	chr11:104787600-104787800	Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr11:104787600-104788000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:104787600-104788000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr11:104787600-104788400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr11:104787600-104788400	Weak transcription	GM12878-XiMat	blood
49	chr11:104787600-104789200	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr11:104787600-104789200	Active TSS	Fetal Muscle Leg	muscle

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