Variant report

Variant	rs538249661
Chromosome Location	chr11:48089498-48089499
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:48083070..48085451-chr11:48088899..48092016,4	K562	blood:
2	chr11:48087146..48090054-chr11:48094817..48096585,2	MCF-7	breast:
3	chr11:48081883..48084532-chr11:48088077..48090811,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv530620	chr11:47765455-48664555	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv1036992	chr11:47794621-48666024	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv1036451	chr11:47902321-48616646	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv541037	chr11:47902321-48616646	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1047490	chr11:47916708-48388686	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1044266	chr11:47929586-48276132	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv541038	chr11:47929586-48276132	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv870381	chr11:47989434-48142648	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
10	esv3396029	chr11:47993857-48241494	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv897327	chr11:48004369-48911660	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
12	nsv869124	chr11:48014539-48783113	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
13	nsv1051805	chr11:48016488-48378048	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
14	nsv428573	chr11:48032457-48152344	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
15	nsv897328	chr11:48043053-48901553	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
16	nsv897329	chr11:48052676-48319974	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
17	nsv1048554	chr11:48062861-48388686	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
18	nsv1038210	chr11:48068862-48388686	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
19	nsv1052076	chr11:48077864-48702549	ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
20	nsv1053528	chr11:48086151-48125731	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
21	nsv869354	chr11:48088580-48783113	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
22	nsv1045734	chr11:48089315-48893207	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48078200-48090600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr11:48078800-48093000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr11:48079200-48102800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:48080600-48100800	Weak transcription	Spleen	Spleen
5	chr11:48081200-48094600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr11:48081600-48097200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:48081800-48101600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr11:48082000-48096000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:48084000-48090200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:48084200-48089800	Enhancers	Brain Hippocampus Middle	brain
11	chr11:48085600-48089600	Weak transcription	Primary T cells from cord blood	blood
12	chr11:48085600-48091400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:48085800-48094600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr11:48086000-48089800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr11:48086000-48094800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr11:48086000-48100800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr11:48086000-48102000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr11:48086000-48109200	Weak transcription	Fetal Intestine Large	intestine
19	chr11:48086200-48098800	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr11:48086200-48100000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr11:48086200-48101000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr11:48086200-48101000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr11:48086200-48102000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr11:48086200-48114400	Weak transcription	Hela-S3	cervix
25	chr11:48086400-48101000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:48086800-48090600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr11:48086800-48102800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr11:48087000-48090000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:48087000-48100800	Weak transcription	Pancreas	Pancrea
30	chr11:48087200-48089600	Enhancers	Brain Angular Gyrus	brain
31	chr11:48087800-48090200	Weak transcription	Fetal Intestine Small	intestine
32	chr11:48088200-48089800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr11:48088400-48089600	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr11:48088400-48089600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr11:48088400-48089600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr11:48088400-48089800	Enhancers	Brain Cingulate Gyrus	brain
37	chr11:48088400-48091000	Enhancers	Placenta	Placenta
38	chr11:48088400-48098800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:48088600-48089600	Enhancers	Fetal Muscle Trunk	muscle
40	chr11:48088800-48089600	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr11:48088800-48089600	Enhancers	Brain Anterior Caudate	brain
42	chr11:48088800-48089800	Enhancers	Fetal Muscle Leg	muscle
43	chr11:48089000-48089600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:48089000-48089800	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr11:48089000-48089800	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr11:48089000-48090200	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr11:48089000-48090400	Enhancers	Adipose Nuclei	Adipose
48	chr11:48089000-48091800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr11:48089000-48093600	Weak transcription	Gastric	stomach
50	chr11:48089000-48094600	Weak transcription	Lung	lung

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