Variant report

Variant	rs189465202
Chromosome Location	chr14:104312410-104312411
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr14:104312331-104314594	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr14:104312384-104312502	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:104180818..104182685-chr14:104312303..104315136,2	MCF-7	breast:
2	chr14:104201896..104204456-chr14:104312035..104314445,3	MCF-7	breast:

Variant related genes	Relation type
LINC00637	TF binding region
ENSG00000126215	Chromatin interaction
ENSG00000088808	Chromatin interaction
ENSG00000100711	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
2	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active 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 miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv902313	chr14:104162263-104378087	Bivalent Enhancer Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	nsv902318	chr14:104255083-104464809	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
8	nsv902319	chr14:104255083-104620077	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases
9	esv1838047	chr14:104283104-104359121	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv902321	chr14:104283104-104378087	Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	esv1817657	chr14:104311251-104314960	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	esv20166	chr14:104312355-104315015	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104295200-104312600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:104295200-104312600	Weak transcription	Small Intestine	intestine
3	chr14:104304000-104312800	Weak transcription	Esophagus	oesophagus
4	chr14:104304000-104313000	Weak transcription	Spleen	Spleen
5	chr14:104305400-104312800	Weak transcription	Gastric	stomach
6	chr14:104309000-104312800	Weak transcription	Placenta	Placenta
7	chr14:104311000-104312800	Weak transcription	Pancreas	Pancrea
8	chr14:104311600-104312600	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr14:104311600-104312600	Enhancers	Brain Cingulate Gyrus	brain
10	chr14:104311800-104313000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:104311800-104313000	Flanking Active TSS	NHEK	skin
12	chr14:104311800-104314600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr14:104311800-104314600	Active TSS	Right Atrium	heart
14	chr14:104312000-104312600	Bivalent Enhancer	Primary B cells from cord blood	blood
15	chr14:104312000-104312600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr14:104312000-104315200	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr14:104312200-104312600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr14:104312200-104312600	Bivalent Enhancer	Fetal Intestine Small	intestine
19	chr14:104312200-104312600	Bivalent Enhancer	Thymus	Thymus
20	chr14:104312200-104312800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr14:104312200-104312800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr14:104312200-104312800	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr14:104312200-104312800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr14:104312200-104313200	Flanking Active TSS	Duodenum Mucosa	Duodenum
25	chr14:104312200-104313200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr14:104312200-104313400	Flanking Active TSS	HUVEC	blood vessel
27	chr14:104312200-104314200	Active TSS	Right Ventricle	heart
28	chr14:104312200-104314600	Bivalent/Poised TSS	Fetal Brain Female	brain
29	chr14:104312400-104312600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
30	chr14:104312400-104312600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
31	chr14:104312400-104312600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
32	chr14:104312400-104312600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr14:104312400-104312600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr14:104312400-104312600	Active TSS	Adipose Nuclei	Adipose
35	chr14:104312400-104312600	Active TSS	Brain Hippocampus Middle	brain
36	chr14:104312400-104312600	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr14:104312400-104312600	Active TSS	Colonic Mucosa	Colon
38	chr14:104312400-104312600	Enhancers	Colon Smooth Muscle	Colon
39	chr14:104312400-104312600	Flanking Active TSS	Fetal Heart	heart
40	chr14:104312400-104312600	Bivalent Enhancer	Fetal Intestine Large	intestine
41	chr14:104312400-104312600	Flanking Bivalent TSS/Enh	Fetal Lung	lung
42	chr14:104312400-104312600	Flanking Active TSS	Ovary	ovary
43	chr14:104312400-104312600	Enhancers	Rectal Smooth Muscle	rectum
44	chr14:104312400-104312600	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
45	chr14:104312400-104312600	Flanking Active TSS	Stomach Mucosa	stomach
46	chr14:104312400-104312600	Active TSS	GM12878-XiMat	blood
47	chr14:104312400-104312600	Flanking Active TSS	HepG2	liver
48	chr14:104312400-104312800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
49	chr14:104312400-104312800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
50	chr14:104312400-104312800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links