Variant report

Variant	rs191908307
Chromosome Location	chr11:48074674-48074675
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:48073485..48075927-chr11:48082055..48084574,2	MCF-7	breast:
2	chr11:48072169..48075662-chr11:48075736..48079290,4	MCF-7	breast:
3	chr11:48071848..48074782-chr11:48077801..48079441,2	MCF-7	breast:
4	chr11:48072810..48075370-chr11:48080373..48082997,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:21 , 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	esv3351837	chr11:48073826-48076224	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	esv3371135	chr11:48074326-48075674	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48065600-48076000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr11:48066000-48075600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:48066000-48076800	Weak transcription	Thymus	Thymus
4	chr11:48070800-48074800	Enhancers	Primary B cells from peripheral blood	blood
5	chr11:48070800-48083400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr11:48071000-48076000	Weak transcription	Adipose Nuclei	Adipose
7	chr11:48072200-48075600	Weak transcription	Fetal Intestine Small	intestine
8	chr11:48072200-48075800	Enhancers	Primary B cells from cord blood	blood
9	chr11:48072400-48076000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr11:48072400-48080600	Enhancers	Spleen	Spleen
11	chr11:48072600-48077000	Weak transcription	Brain Substantia Nigra	brain
12	chr11:48073000-48076800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr11:48073200-48075800	Weak transcription	Fetal Thymus	thymus
14	chr11:48073400-48075600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:48073600-48075600	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr11:48073800-48076000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr11:48074000-48075800	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr11:48074000-48075800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr11:48074000-48075800	Weak transcription	Liver	Liver
20	chr11:48074000-48076800	Weak transcription	Colon Smooth Muscle	Colon
21	chr11:48074000-48076800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr11:48074200-48075800	Weak transcription	Fetal Muscle Leg	muscle
23	chr11:48074200-48076400	Weak transcription	Aorta	Aorta
24	chr11:48074200-48076400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr11:48074200-48076800	Weak transcription	Fetal Stomach	stomach
26	chr11:48074200-48077000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr11:48074400-48075800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:48074400-48075800	Weak transcription	Fetal Kidney	kidney
29	chr11:48074400-48075800	Weak transcription	Stomach Mucosa	stomach
30	chr11:48074400-48076000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:48074400-48076000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr11:48074400-48076000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr11:48074400-48076000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr11:48074400-48076400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr11:48074400-48076600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:48074400-48076600	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr11:48074400-48076600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr11:48074400-48076800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:48074400-48076800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:48074400-48076800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:48074400-48076800	Weak transcription	Osteobl	bone
42	chr11:48074400-48077000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr11:48074400-48077000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:48074400-48077000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr11:48074400-48077000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:48074400-48077000	Weak transcription	Fetal Intestine Large	intestine
47	chr11:48074400-48081200	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr11:48074600-48075000	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr11:48074600-48075400	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr11:48074600-48075400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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