Variant report

Variant	rs112487062
Chromosome Location	chr3:42544492-42544493
allele	C/T
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	chr3:42543941..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:106 , 50 per page) page: 1 2 3

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	chr3:42542400-42544600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr3:42542600-42544800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr3:42542600-42545000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr3:42542600-42545200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
7	chr3:42542600-42545200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr3:42542800-42544600	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr3:42542800-42544800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr3:42543000-42544600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:42543000-42544600	Active TSS	Aorta	Aorta
12	chr3:42543000-42544800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:42543000-42544800	Active TSS	Left Ventricle	heart
14	chr3:42543000-42545000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr3:42543200-42544600	Active TSS	Gastric	stomach
16	chr3:42543200-42545200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:42543200-42546200	Active TSS	Rectal Smooth Muscle	rectum
18	chr3:42543400-42544600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:42543400-42544600	Active TSS	H9 Cell Line	embryonic stem cell
20	chr3:42543400-42544600	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr3:42543400-42544600	Active TSS	Primary T cells from cord blood	blood
22	chr3:42543400-42544600	Active TSS	A549	lung
23	chr3:42543400-42545000	Active TSS	Sigmoid Colon	Sigmoid Colon
24	chr3:42543600-42544600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr3:42543600-42544600	Active TSS	Brain Substantia Nigra	brain
26	chr3:42543600-42544800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr3:42543600-42544800	Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr3:42543600-42545000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
29	chr3:42543800-42544600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr3:42543800-42544600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr3:42543800-42544600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr3:42543800-42544600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr3:42543800-42544600	Active TSS	Duodenum Mucosa	Duodenum
34	chr3:42543800-42544600	Active TSS	Lung	lung
35	chr3:42543800-42544600	Bivalent/Poised TSS	Psoas Muscle	Psoas
36	chr3:42543800-42544600	Bivalent/Poised TSS	HepG2	liver
37	chr3:42543800-42544800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr3:42543800-42544800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr3:42543800-42545000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
40	chr3:42543800-42545000	Active TSS	Right Ventricle	heart
41	chr3:42543800-42545200	Active TSS	Brain Anterior Caudate	brain
42	chr3:42543800-42545600	Active TSS	Brain Angular Gyrus	brain
43	chr3:42543800-42545800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr3:42544000-42544600	Bivalent Enhancer	Fetal Brain Male	brain
45	chr3:42544000-42544600	Bivalent Enhancer	Fetal Thymus	thymus
46	chr3:42544000-42544600	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr3:42544000-42544600	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr3:42544000-42544600	Bivalent/Poised TSS	Thymus	Thymus
49	chr3:42544000-42544600	Active TSS	HUVEC	blood vessel
50	chr3:42544000-42544600	Active TSS	NHEK	skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links