Variant report

Variant	rs187217531
Chromosome Location	chr5:118608626-118608627
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118606692..118610066-chr5:118616114..118619938,5	K562	blood:
2	chr5:118606735..118608940-chr5:118610555..118612827,2	MCF-7	breast:
3	chr5:118607471..118609020-chr5:118732482..118735110,2	MCF-7	breast:
4	chr5:118607071..118610754-chr5:118620607..118623123,4	K562	blood:
5	chr5:118602852..118606444-chr5:118607322..118611443,10	MCF-7	breast:
6	chr5:118602128..118606181-chr5:118606426..118611824,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145779	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462426	chr5:118465249-118621672	Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv599564	chr5:118465249-118621672	ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1016595	chr5:118468658-118621672	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	esv2757136	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	esv2759374	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1024648	chr5:118608175-118678268	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118604800-118612000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr5:118605000-118611800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr5:118605400-118609000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:118605400-118609000	Enhancers	Fetal Heart	heart
5	chr5:118605400-118609200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr5:118605400-118609200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr5:118605400-118609400	Weak transcription	Colonic Mucosa	Colon
8	chr5:118605400-118609600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr5:118605400-118609800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:118605400-118609800	Weak transcription	NH-A	brain
11	chr5:118605400-118609800	Weak transcription	Osteobl	bone
12	chr5:118605400-118610000	Weak transcription	Liver	Liver
13	chr5:118605400-118610200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:118605400-118610400	Weak transcription	Brain Hippocampus Middle	brain
15	chr5:118605400-118611200	Weak transcription	Lung	lung
16	chr5:118605400-118621000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:118605600-118608800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr5:118605600-118608800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:118605600-118608800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr5:118605600-118608800	Weak transcription	Fetal Intestine Small	intestine
21	chr5:118605600-118608800	Weak transcription	HMEC	breast
22	chr5:118605600-118609000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:118605600-118609200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:118605600-118609200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:118605600-118609200	Weak transcription	Fetal Intestine Large	intestine
26	chr5:118605600-118609400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr5:118605600-118611800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr5:118605600-118612800	Weak transcription	Fetal Kidney	kidney
29	chr5:118605600-118618200	Weak transcription	Fetal Stomach	stomach
30	chr5:118606000-118608800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr5:118606000-118608800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:118606000-118609200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:118606000-118609200	Enhancers	Stomach Smooth Muscle	stomach
34	chr5:118606000-118609200	Weak transcription	HUVEC	blood vessel
35	chr5:118606000-118609800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr5:118606000-118610000	Weak transcription	NHLF	lung
37	chr5:118606000-118610200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr5:118606200-118608800	Weak transcription	NHEK	skin
39	chr5:118606200-118609200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr5:118606200-118617600	Weak transcription	Fetal Lung	lung
41	chr5:118606400-118610200	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr5:118606600-118609200	Enhancers	Stomach Mucosa	stomach
43	chr5:118606600-118612000	Enhancers	Pancreas	Pancrea
44	chr5:118606800-118609400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr5:118606800-118610400	Transcr. at gene 5' and 3'	Dnd41	blood
46	chr5:118606800-118610600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr5:118606800-118610600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr5:118606800-118611200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr5:118606800-118611400	Flanking Active TSS	GM12878-XiMat	blood
50	chr5:118606800-118612000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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