Variant report

Variant	rs527282561
Chromosome Location	chr5:74345463-74345464
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:74230526..74231383-chr5:74345361..74346008,2	MCF-7	breast:
2	chr5:74345325..74346339-chr5:74561197..74562160,5	MCF-7	breast:
3	chr5:74343721..74346711-chr5:74348510..74350046,2	MCF-7	breast:
4	chr5:74338841..74341157-chr5:74343981..74347541,4	MCF-7	breast:
5	chr5:74341045..74343910-chr5:74344011..74347485,4	MCF-7	breast:
6	chr5:74343645..74345260-chr5:74345382..74347449,2	K562	blood:

Variant related genes	Relation type
ENSG00000250889	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018865	chr5:74246293-74494552	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv1835096	chr5:74336883-74356857	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
3	nsv598654	chr5:74345369-74351228	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74328600-74345600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:74329200-74346800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:74330600-74348000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:74331400-74345600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr5:74331600-74347000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr5:74333200-74346000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:74336600-74345600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:74337600-74348200	Weak transcription	Left Ventricle	heart
9	chr5:74338600-74348000	Weak transcription	Psoas Muscle	Psoas
10	chr5:74339000-74347000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:74340200-74346000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:74340600-74347400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:74341000-74346400	Weak transcription	Small Intestine	intestine
14	chr5:74341400-74347400	Enhancers	HMEC	breast
15	chr5:74342000-74346000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr5:74342200-74345800	Weak transcription	Lung	lung
17	chr5:74342200-74347800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:74342400-74345800	Weak transcription	Esophagus	oesophagus
19	chr5:74342400-74346000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr5:74342800-74345600	Weak transcription	Pancreas	Pancrea
21	chr5:74343200-74345600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr5:74343400-74345600	Weak transcription	NHEK	skin
23	chr5:74343400-74346200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr5:74343600-74345800	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr5:74343600-74345800	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr5:74343800-74346800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr5:74343800-74346800	Enhancers	Fetal Brain Female	brain
28	chr5:74344000-74345600	Enhancers	Primary T cells fromperipheralblood	blood
29	chr5:74344000-74345600	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr5:74344000-74345600	Enhancers	Colon Smooth Muscle	Colon
31	chr5:74344000-74345800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:74344000-74346800	Enhancers	Stomach Mucosa	stomach
33	chr5:74344200-74345600	Genic enhancers	Fetal Thymus	thymus
34	chr5:74344200-74345600	Flanking Active TSS	GM12878-XiMat	blood
35	chr5:74344200-74347200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:74344400-74345600	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr5:74344400-74345800	Weak transcription	Gastric	stomach
38	chr5:74344400-74346200	Genic enhancers	Fetal Intestine Small	intestine
39	chr5:74344400-74346400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr5:74344400-74346800	Enhancers	Rectal Smooth Muscle	rectum
41	chr5:74344400-74347200	Enhancers	Fetal Brain Male	brain
42	chr5:74344400-74348000	Weak transcription	Right Atrium	heart
43	chr5:74344600-74345600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr5:74344600-74345600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:74344600-74345600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr5:74344600-74345600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr5:74344600-74345600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr5:74344600-74345600	Enhancers	Brain Angular Gyrus	brain
49	chr5:74344600-74345600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr5:74344600-74345800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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