Variant report

Variant	rs574058030
Chromosome Location	chr11:48079197-48079198
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:48071848..48074782-chr11:48077801..48079441,2	MCF-7	breast:
2	chr11:48072169..48075662-chr11:48075736..48079290,4	MCF-7	breast:
3	chr11:48077645..48080175-chr11:48086953..48089270,2	MCF-7	breast:
4	chr11:48077913..48080280-chr11:48080886..48083753,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 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	nsv1053145	chr11:47967902-48086950	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48070800-48083400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr11:48072400-48080600	Enhancers	Spleen	Spleen
3	chr11:48074400-48081200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:48074600-48081800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:48074600-48082400	Weak transcription	Hela-S3	cervix
6	chr11:48074600-48084200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:48074600-48085000	Weak transcription	Left Ventricle	heart
8	chr11:48075800-48079200	Enhancers	Fetal Thymus	thymus
9	chr11:48076000-48079200	Enhancers	Dnd41	blood
10	chr11:48076000-48080200	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr11:48076200-48080600	Enhancers	Primary B cells from peripheral blood	blood
12	chr11:48076600-48079200	Enhancers	Brain Hippocampus Middle	brain
13	chr11:48077200-48081000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:48077400-48079800	Weak transcription	Lung	lung
15	chr11:48077400-48082400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:48077400-48083000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr11:48077400-48085000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr11:48077400-48085200	Weak transcription	Adipose Nuclei	Adipose
19	chr11:48077400-48088600	Weak transcription	Right Atrium	heart
20	chr11:48077600-48080000	Enhancers	Duodenum Mucosa	Duodenum
21	chr11:48077600-48081000	Weak transcription	Pancreas	Pancrea
22	chr11:48077600-48081200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr11:48077600-48082400	Weak transcription	Placenta	Placenta
24	chr11:48077600-48082800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:48077600-48082800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr11:48077600-48083000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr11:48077600-48084400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr11:48077800-48079200	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr11:48077800-48080000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr11:48077800-48081000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr11:48077800-48081200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:48077800-48082800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:48077800-48082800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:48077800-48082800	Genic enhancers	A549	lung
35	chr11:48077800-48082800	Weak transcription	NHLF	lung
36	chr11:48077800-48083800	Weak transcription	HSMM	muscle
37	chr11:48077800-48085600	Weak transcription	Fetal Intestine Large	intestine
38	chr11:48077800-48088800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:48078000-48079200	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr11:48078000-48080200	Weak transcription	Brain Angular Gyrus	brain
41	chr11:48078000-48080200	Enhancers	Stomach Mucosa	stomach
42	chr11:48078000-48080400	Enhancers	Primary B cells from cord blood	blood
43	chr11:48078000-48081000	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr11:48078000-48081200	Enhancers	GM12878-XiMat	blood
45	chr11:48078000-48081400	Enhancers	Primary T cells fromperipheralblood	blood
46	chr11:48078000-48081600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr11:48078000-48081800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr11:48078000-48082400	Weak transcription	Brain Substantia Nigra	brain
49	chr11:48078000-48082800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:48078000-48082800	Weak transcription	Osteobl	bone

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