Variant report

Variant	rs575382686
Chromosome Location	chr3:42544760-42544761
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:42200703..42202768-chr3:42543945..42545454,2	MCF-7	breast:
2	chr3:42529189..42533440-chr3:42542111..42547805,7	MCF-7	breast:
3	chr3:42542597..42545270-chr3:42568668..42571142,2	K562	blood:
4	chr3:42518552..42520973-chr3:42544499..42546784,2	MCF-7	breast:
5	chr3:42543941..42547920-chr3:42554474..42558044,4	K562	blood:

Variant related genes	Relation type
ENSG00000182606	Chromatin interaction
ENSG00000114812	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	nsv529987	chr3:41921995-42591771	Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1005533	chr3:41953873-42596375	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	esv1804804	chr3:42515186-42582403	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv527430	chr3:42534042-42557199	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1814102	chr3:42539966-42582403	Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv3435194	chr3:42543398-42545496	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 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	chr3:42542000-42544800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr3:42542200-42545200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr3:42542600-42544800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr3:42542600-42545000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr3:42542600-42545200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr3:42542600-42545200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr3:42542800-42544800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:42543000-42544800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:42543000-42544800	Active TSS	Left Ventricle	heart
10	chr3:42543000-42545000	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr3:42543200-42545200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:42543200-42546200	Active TSS	Rectal Smooth Muscle	rectum
13	chr3:42543400-42545000	Active TSS	Sigmoid Colon	Sigmoid Colon
14	chr3:42543600-42544800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr3:42543600-42544800	Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr3:42543600-42545000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr3:42543800-42544800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr3:42543800-42544800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:42543800-42545000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
20	chr3:42543800-42545000	Active TSS	Right Ventricle	heart
21	chr3:42543800-42545200	Active TSS	Brain Anterior Caudate	brain
22	chr3:42543800-42545600	Active TSS	Brain Angular Gyrus	brain
23	chr3:42543800-42545800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr3:42544000-42544800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
25	chr3:42544000-42544800	Bivalent/Poised TSS	Fetal Brain Female	brain
26	chr3:42544000-42544800	Enhancers	Placenta Amnion	Placenta Amnion
27	chr3:42544000-42544800	Active TSS	K562	blood
28	chr3:42544000-42545000	Active TSS	Brain Hippocampus Middle	brain
29	chr3:42544000-42545000	Enhancers	Fetal Heart	heart
30	chr3:42544000-42545000	Active TSS	Small Intestine	intestine
31	chr3:42544000-42545200	Active TSS	Fetal Intestine Small	intestine
32	chr3:42544000-42545400	Active TSS	Brain Cingulate Gyrus	brain
33	chr3:42544000-42545800	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr3:42544000-42546600	Enhancers	Spleen	Spleen
35	chr3:42544200-42544800	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr3:42544200-42544800	Bivalent/Poised TSS	Colonic Mucosa	Colon
37	chr3:42544200-42544800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
38	chr3:42544200-42545000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
39	chr3:42544400-42544800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr3:42544400-42544800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr3:42544400-42544800	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr3:42544400-42544800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
43	chr3:42544400-42544800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr3:42544400-42544800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr3:42544400-42544800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
46	chr3:42544400-42544800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
47	chr3:42544400-42544800	Flanking Active TSS	Esophagus	oesophagus
48	chr3:42544400-42544800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
49	chr3:42544400-42544800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
50	chr3:42544400-42544800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle

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