Variant report

Variant	rs113670721
Chromosome Location	chr5:59995684-59995685
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:59994096..59995835-chr5:60107793..60109955,2	MCF-7	breast:
2	chr5:59994474..59997876-chr5:60455928..60460228,5	K562	blood:
3	chr5:59995106..59997535-chr5:60240120..60242292,3	K562	blood:
4	chr5:59993591..59996148-chr5:60625919..60628980,4	K562	blood:
5	chr5:59994210..59996553-chr5:60627404..60629725,2	MCF-7	breast:
6	chr5:59994332..59996148-chr5:60627447..60629730,3	K562	blood:

Variant related genes	Relation type
ENSG00000188725	Chromatin interaction
ENSG00000049167	Chromatin interaction
ENSG00000130449	Chromatin interaction
ENSG00000164182	Chromatin interaction
ENSG00000251279	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	nsv598288	chr5:59627555-60003460	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv492277	chr5:59905195-60180834	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv462198	chr5:59969015-60116613	Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv598298	chr5:59969015-60116613	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1023403	chr5:59969534-60079822	Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv4850	chr5:59976186-60039810	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv508362	chr5:59990308-60050894	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
8	esv1816307	chr5:59992305-60012235	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
9	esv1794154	chr5:59995393-60012235	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
10	esv1821070	chr5:59995393-60012235	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
11	esv1801919	chr5:59995393-60013913	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59992600-59996600	Active TSS	GM12878-XiMat	blood
2	chr5:59993000-59996400	Active TSS	Placenta	Placenta
3	chr5:59994200-59996400	Active TSS	Fetal Kidney	kidney
4	chr5:59994200-59996600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:59994200-59996800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr5:59994400-59996200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:59994400-59996600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:59994400-59996600	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr5:59994400-59996600	Active TSS	K562	blood
10	chr5:59994400-59996800	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr5:59994400-59996800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:59994400-59997000	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr5:59994600-59996600	Active TSS	H1 Cell Line	embryonic stem cell
14	chr5:59994600-59996800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:59994600-59996800	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr5:59994600-59996800	Active TSS	NHLF	lung
17	chr5:59994800-59995800	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr5:59994800-59995800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr5:59994800-59996600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr5:59994800-59996600	Active TSS	H9 Cell Line	embryonic stem cell
21	chr5:59994800-59996600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr5:59994800-59996600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:59994800-59996600	Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr5:59994800-59996600	Active TSS	Fetal Intestine Small	intestine
25	chr5:59994800-59996800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:59994800-59996800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:59994800-59996800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:59994800-59996800	Active TSS	HSMM	muscle
29	chr5:59994800-59996800	Active TSS	HSMMtube	muscle
30	chr5:59994800-59996800	Active TSS	NHDF-Ad	bronchial
31	chr5:59994800-59997000	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr5:59994800-59997000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr5:59994800-59997000	Active TSS	Fetal Brain Female	brain
34	chr5:59994800-59997000	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr5:59995000-59995800	Flanking Active TSS	Primary B cells from peripheral blood	blood
36	chr5:59995000-59995800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
37	chr5:59995000-59995800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr5:59995000-59996200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr5:59995000-59996200	Active TSS	Hela-S3	cervix
40	chr5:59995000-59996200	Active TSS	HMEC	breast
41	chr5:59995000-59996400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:59995000-59996400	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr5:59995000-59996400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:59995000-59996400	Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr5:59995000-59996400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:59995000-59996400	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr5:59995000-59996400	Bivalent/Poised TSS	HepG2	liver
48	chr5:59995000-59996600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr5:59995000-59996600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:59995000-59996600	Active TSS	Muscle Satellite Cultured Cells	--

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