Variant report

Variant	rs578135037
Chromosome Location	chr5:94957490-94957491
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:94889800..94892273-chr5:94955578..94957837,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198677	Chromatin interaction
ENSG00000164291	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598955	chr5:94903453-95136019	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv3421596	chr5:94954196-94958694	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv1842645	chr5:94955602-94962981	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3340930	chr5:94955821-94958369	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv1793809	chr5:94956266-94962981	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv1795334	chr5:94956266-94962981	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv598958	chr5:94956345-94962981	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv598959	chr5:94956345-94963181	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94954800-94958600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:94955000-94957600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr5:94955000-94957600	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr5:94955200-94957600	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr5:94955200-94957600	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr5:94955200-94957800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr5:94955400-94957600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr5:94955400-94957600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr5:94955400-94957600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr5:94955400-94957600	Active TSS	Brain Angular Gyrus	brain
11	chr5:94955400-94957600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:94955400-94957800	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr5:94955400-94958200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr5:94955600-94957600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:94955600-94957600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:94955600-94957600	Active TSS	Brain Anterior Caudate	brain
17	chr5:94955800-94958000	Flanking Active TSS	Dnd41	blood
18	chr5:94956000-94957600	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr5:94956000-94957600	Active TSS	Rectal Smooth Muscle	rectum
20	chr5:94956200-94957600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr5:94956200-94957600	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
22	chr5:94956600-94957600	Flanking Active TSS	Liver	Liver
23	chr5:94956600-94957600	Flanking Bivalent TSS/Enh	HepG2	liver
24	chr5:94956600-94957800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr5:94956600-94957800	Flanking Active TSS	GM12878-XiMat	blood
26	chr5:94956600-94957800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
27	chr5:94956800-94957600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:94956800-94957600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:94956800-94957600	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr5:94956800-94957600	Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr5:94957000-94957600	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr5:94957000-94957600	Flanking Active TSS	Placenta	Placenta
33	chr5:94957000-94958200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr5:94957000-94958200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr5:94957000-94958200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr5:94957200-94957600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
37	chr5:94957200-94957600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr5:94957200-94957600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr5:94957200-94957600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:94957200-94957600	Bivalent Enhancer	Fetal Kidney	kidney
41	chr5:94957200-94957600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
42	chr5:94957200-94957600	Flanking Bivalent TSS/Enh	Stomach Mucosa	stomach
43	chr5:94957200-94957800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
44	chr5:94957200-94958000	Flanking Active TSS	Thymus	Thymus
45	chr5:94957200-94958200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr5:94957200-94958200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr5:94957200-94958200	Enhancers	Spleen	Spleen
48	chr5:94957200-94958400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr5:94957200-94958600	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr5:94957200-94958600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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