Variant report

Variant	rs557267402
Chromosome Location	chr11:48073958-48073959
allele	C/G/T
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	chr11:48001588..48003458-chr11:48072327..48074096,3	MCF-7	breast:
5	chr11:48072810..48075370-chr11:48080373..48082997,2	K562	blood:
6	chr11:48072741..48074310-chr11:48080242..48082997,2	K562	blood:

Variant related genes	Relation type
ENSG00000149177	Chromatin interaction

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	esv3351837	chr11:48073826-48076224	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 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	chr11:48065800-48074200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:48066000-48074000	Weak transcription	Fetal Muscle Leg	muscle
4	chr11:48066000-48075600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:48066000-48076800	Weak transcription	Thymus	Thymus
6	chr11:48068800-48074000	Weak transcription	Right Ventricle	heart
7	chr11:48068800-48074600	Enhancers	Placenta	Placenta
8	chr11:48069000-48074600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:48069200-48074000	Enhancers	Primary T cells fromperipheralblood	blood
10	chr11:48070800-48074600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr11:48070800-48074800	Enhancers	Primary B cells from peripheral blood	blood
12	chr11:48070800-48083400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:48071000-48076000	Weak transcription	Adipose Nuclei	Adipose
14	chr11:48071200-48074600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr11:48071200-48074600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr11:48071200-48074600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr11:48071200-48074600	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr11:48071400-48074400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr11:48071400-48074400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:48071400-48074600	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr11:48071400-48074600	Enhancers	GM12878-XiMat	blood
22	chr11:48071600-48074600	Enhancers	Primary T cells from cord blood	blood
23	chr11:48071600-48074600	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr11:48071600-48074600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr11:48071600-48074600	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr11:48071600-48074600	Enhancers	Placenta Amnion	Placenta Amnion
27	chr11:48071800-48074400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr11:48072000-48074000	Enhancers	Liver	Liver
29	chr11:48072000-48074600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:48072200-48074000	Weak transcription	Fetal Intestine Large	intestine
31	chr11:48072200-48075600	Weak transcription	Fetal Intestine Small	intestine
32	chr11:48072200-48075800	Enhancers	Primary B cells from cord blood	blood
33	chr11:48072400-48074000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr11:48072400-48074000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr11:48072400-48074600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:48072400-48074600	Enhancers	Brain Hippocampus Middle	brain
37	chr11:48072400-48076000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr11:48072400-48080600	Enhancers	Spleen	Spleen
39	chr11:48072600-48074000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:48072600-48077000	Weak transcription	Brain Substantia Nigra	brain
41	chr11:48072800-48074600	Enhancers	Brain Angular Gyrus	brain
42	chr11:48073000-48074400	Enhancers	Stomach Smooth Muscle	stomach
43	chr11:48073000-48074400	Enhancers	Osteobl	bone
44	chr11:48073000-48074600	Enhancers	Esophagus	oesophagus
45	chr11:48073000-48074600	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr11:48073000-48074600	Enhancers	NHDF-Ad	bronchial
47	chr11:48073000-48076800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr11:48073200-48074000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr11:48073200-48074400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr11:48073200-48074400	Enhancers	HUES48 Cell Line	embryonic stem cell

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