Variant report

Variant	rs560083994
Chromosome Location	chr5:16783479-16783480
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:16756542..16758777-chr5:16782954..16785752,2	K562	blood:
2	chr5:16782557..16785455-chr5:16934978..16937136,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145555	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880373	chr5:16710572-16785604	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3529928	chr5:16748426-16856563	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	esv3529929	chr5:16748426-16856563	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv1030550	chr5:16748966-16872084	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv1015247	chr5:16748966-17133274	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv964758	chr5:16783252-16787402	Weak transcription Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16748600-16783800	Weak transcription	Small Intestine	intestine
2	chr5:16755200-16795400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:16757600-16796800	Weak transcription	Right Ventricle	heart
4	chr5:16759800-16783600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr5:16760000-16791400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr5:16761000-16796600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:16762400-16784000	Weak transcription	Colonic Mucosa	Colon
8	chr5:16763800-16794600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:16764200-16784000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:16764600-16783800	Weak transcription	Spleen	Spleen
11	chr5:16764600-16792800	Weak transcription	Stomach Mucosa	stomach
12	chr5:16764600-16807400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr5:16766800-16785200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr5:16770200-16791400	Weak transcription	Fetal Kidney	kidney
15	chr5:16770800-16792400	Weak transcription	Placenta	Placenta
16	chr5:16770800-16793800	Weak transcription	Hela-S3	cervix
17	chr5:16775200-16784400	Weak transcription	Psoas Muscle	Psoas
18	chr5:16775200-16796800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr5:16776200-16785400	Strong transcription	HUVEC	blood vessel
20	chr5:16776800-16784800	Strong transcription	Duodenum Mucosa	Duodenum
21	chr5:16777000-16783800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr5:16777200-16785600	Strong transcription	Fetal Intestine Small	intestine
23	chr5:16777400-16784000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:16777600-16784000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr5:16777800-16785200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr5:16777800-16786200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr5:16778200-16784600	Strong transcription	Fetal Intestine Large	intestine
28	chr5:16778600-16784000	Strong transcription	A549	lung
29	chr5:16778800-16784600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr5:16778800-16800000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:16779200-16784400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:16779200-16785000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr5:16779400-16783800	Weak transcription	Gastric	stomach
34	chr5:16779400-16785200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr5:16779400-16785400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr5:16779400-16791400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr5:16779600-16783800	Weak transcription	Adipose Nuclei	Adipose
38	chr5:16779800-16796600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr5:16779800-16797200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr5:16780200-16791000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr5:16780400-16783600	Strong transcription	Osteobl	bone
42	chr5:16780800-16791400	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr5:16781400-16783600	Weak transcription	NHDF-Ad	bronchial
44	chr5:16781800-16784000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:16781800-16785200	Strong transcription	Fetal Lung	lung
46	chr5:16781800-16785200	Strong transcription	NHEK	skin
47	chr5:16781800-16786400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr5:16782000-16785400	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr5:16782200-16783800	Weak transcription	HSMM	muscle
50	chr5:16782400-16784000	Weak transcription	Pancreas	Pancrea

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