Variant report

Variant	rs576312136
Chromosome Location	chr11:47379609-47379610
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47369216..47372065-chr11:47378496..47380430,2	K562	blood:
2	chr11:47284615..47286154-chr11:47378309..47380151,2	MCF-7	breast:
3	chr11:47290509..47292951-chr11:47377343..47380007,3	MCF-7	breast:
4	chr11:47379032..47381068-chr11:47385092..47386815,2	MCF-7	breast:
5	chr11:47362680..47364496-chr11:47377424..47380369,2	K562	blood:
6	chr11:47195702..47198669-chr11:47379540..47381275,2	K562	blood:
7	chr11:47378071..47380550-chr11:47420446..47422509,2	MCF-7	breast:
8	chr11:47376723..47380459-chr11:47382736..47386696,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000110514	Chromatin interaction
ENSG00000149182	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' 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	81 gene(s)	inside rSNPs	diseases
3	esv3330173	chr11:47289256-47450681	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv3416377	chr11:47289276-47450651	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv825871	chr11:47376020-47457537	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	esv3380389	chr11:47376276-47379974	Flanking Active TSS Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	esv3337151	chr11:47376276-47380074	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	esv3439899	chr11:47376276-47381174	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	esv3391449	chr11:47377226-47379724	Flanking Active TSS Strong transcription Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
11	esv3440608	chr11:47379026-47381524	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47371000-47379800	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr11:47374800-47380400	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr11:47375400-47381000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr11:47375600-47380400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr11:47375600-47380600	Strong transcription	Primary B cells from cord blood	blood
6	chr11:47375600-47381000	Strong transcription	Primary B cells from peripheral blood	blood
7	chr11:47376200-47380200	Strong transcription	Primary hematopoietic stem cells	blood
8	chr11:47376800-47381400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr11:47377200-47386600	Weak transcription	Right Atrium	heart
10	chr11:47377200-47391400	Weak transcription	Psoas Muscle	Psoas
11	chr11:47377200-47397800	Weak transcription	Fetal Muscle Leg	muscle
12	chr11:47377400-47380400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
13	chr11:47377600-47380200	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr11:47377600-47380800	Weak transcription	Brain Hippocampus Middle	brain
15	chr11:47377600-47381000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr11:47377600-47381000	Weak transcription	Placenta	Placenta
17	chr11:47377600-47396800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr11:47377600-47397600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr11:47377600-47397800	Weak transcription	Brain Substantia Nigra	brain
20	chr11:47377800-47379800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:47377800-47379800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr11:47377800-47380200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr11:47377800-47380800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr11:47377800-47382200	Weak transcription	Colon Smooth Muscle	Colon
25	chr11:47377800-47382600	Weak transcription	Fetal Heart	heart
26	chr11:47377800-47382800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:47378000-47380000	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr11:47378000-47380200	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr11:47378000-47381400	Weak transcription	Colonic Mucosa	Colon
30	chr11:47378200-47379800	Strong transcription	Brain Anterior Caudate	brain
31	chr11:47378200-47380200	Strong transcription	Stomach Smooth Muscle	stomach
32	chr11:47378400-47379800	Strong transcription	Spleen	Spleen
33	chr11:47378400-47380200	Strong transcription	Brain Inferior Temporal Lobe	brain
34	chr11:47378400-47381400	Weak transcription	Fetal Intestine Small	intestine
35	chr11:47378600-47381400	Weak transcription	Pancreas	Pancrea
36	chr11:47378600-47382000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:47378800-47381600	Weak transcription	Fetal Lung	lung
38	chr11:47378800-47381800	Weak transcription	Adipose Nuclei	Adipose
39	chr11:47378800-47393400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr11:47379000-47379800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr11:47379200-47379800	Strong transcription	Gastric	stomach
42	chr11:47379400-47380000	Active TSS	Fetal Kidney	kidney
43	chr11:47379400-47380000	Genic enhancers	Right Ventricle	heart
44	chr11:47379400-47380200	Strong transcription	Rectal Smooth Muscle	rectum
45	chr11:47379600-47380400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:47379600-47380400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr11:47379600-47380400	Strong transcription	GM12878-XiMat	blood
48	chr11:47379600-47381000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood

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