Variant report

Variant	rs371551899
Chromosome Location	chr5:42950044-42950045
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:42949709..42952302-chr5:42999079..43000906,2	MCF-7	breast:
2	chr5:42949769..42951285-chr5:42989512..42991530,2	K562	blood:
3	chr5:42949298..42951347-chr5:43007117..43009700,3	MCF-7	breast:
4	chr19:49138548..49139536-chr5:42949981..42950933,2	Hela-S3	cervix:
5	chr5:42948996..42951624-chr5:43068211..43070769,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271788	Chromatin interaction
ENSG00000172262	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv534185	chr5:42804840-43067088	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	165 gene(s)	inside rSNPs	diseases
7	nsv1018276	chr5:42809131-42975245	Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv968909	chr5:42903982-42953465	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	esv1806082	chr5:42906572-42967215	Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	esv1813779	chr5:42906572-42992040	Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
11	esv3346992	chr5:42921680-42970055	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv1029288	chr5:42928085-43047323	Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	120 gene(s)	inside rSNPs	diseases
13	nsv1020910	chr5:42929799-43000021	Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
14	nsv537738	chr5:42929799-43000021	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
15	nsv528880	chr5:42940230-42967215	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	nsv515883	chr5:42949688-42967215	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42945200-42951000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:42948600-42952200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:42948800-42950800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr5:42948800-42950800	Flanking Active TSS	GM12878-XiMat	blood
5	chr5:42948800-42953000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:42949000-42950400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:42949000-42950400	Flanking Active TSS	NHDF-Ad	bronchial
8	chr5:42949000-42950600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:42949000-42950600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:42949000-42950600	Flanking Active TSS	Osteobl	bone
11	chr5:42949000-42950800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
12	chr5:42949000-42950800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
13	chr5:42949000-42950800	Flanking Active TSS	A549	lung
14	chr5:42949000-42950800	Flanking Active TSS	HUVEC	blood vessel
15	chr5:42949000-42950800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr5:42949000-42951000	Flanking Active TSS	Primary B cells from peripheral blood	blood
17	chr5:42949000-42951200	Weak transcription	Spleen	Spleen
18	chr5:42949000-42952200	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr5:42949000-42952400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr5:42949000-42952400	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr5:42949000-42952800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
22	chr5:42949000-42953600	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr5:42949200-42950200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr5:42949200-42950200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr5:42949200-42950200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr5:42949200-42950200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
27	chr5:42949200-42950200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
28	chr5:42949200-42950400	Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr5:42949200-42950400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr5:42949200-42950400	Flanking Active TSS	NH-A	brain
31	chr5:42949200-42950600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:42949200-42950600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:42949200-42950600	Bivalent Enhancer	Fetal Intestine Large	intestine
34	chr5:42949200-42950600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
35	chr5:42949200-42950800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr5:42949200-42951000	Active TSS	Colonic Mucosa	Colon
37	chr5:42949200-42951200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr5:42949200-42951800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
39	chr5:42949200-42952000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
40	chr5:42949200-42952400	Active TSS	Aorta	Aorta
41	chr5:42949200-42952800	Bivalent/Poised TSS	Psoas Muscle	Psoas
42	chr5:42949200-42953200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
43	chr5:42949400-42950200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr5:42949400-42950200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr5:42949400-42950200	Bivalent/Poised TSS	Brain Substantia Nigra	brain
46	chr5:42949400-42950200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
47	chr5:42949400-42950200	ZNF genes & repeats	Placenta	Placenta
48	chr5:42949400-42950200	Enhancers	Pancreas	Pancrea
49	chr5:42949400-42950200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
50	chr5:42949400-42950200	ZNF genes & repeats	HMEC	breast

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