Variant report

Variant	rs192753106
Chromosome Location	chr7:26119184-26119185
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:26118648..26123140-chr7:26237417..26242169,5	K562	blood:
2	chr7:26112064..26114800-chr7:26118641..26120981,2	K562	blood:
3	chr7:26114537..26124611-chr7:26235125..26244089,23	MCF-7	breast:
4	chr7:26117300..26119853-chr7:26222397..26224212,2	MCF-7	breast:
5	chr7:26117990..26136794-chr7:26219781..26234338,53	K562	blood:
6	chr7:26116496..26120025-chr7:26124167..26127570,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000050344	Chromatin interaction
ENSG00000122565	Chromatin interaction
ENSG00000122566	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016813	chr7:25405859-26150509	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	108 gene(s)	inside rSNPs	diseases
2	nsv538803	chr7:25405859-26150509	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	108 gene(s)	inside rSNPs	diseases
3	nsv606432	chr7:25988185-26223294	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	102 gene(s)	inside rSNPs	diseases
4	nsv1019804	chr7:26057723-26214280	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1024345	chr7:26063806-26132278	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv1015432	chr7:26069740-26126619	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv887849	chr7:26075094-26234302	Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	nsv1024986	chr7:26079829-26128758	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1026480	chr7:26090236-26128758	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv1031125	chr7:26090236-26145401	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv1032005	chr7:26096504-26127670	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv1024779	chr7:26111703-26162200	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv1028727	chr7:26111703-26193309	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv1023899	chr7:26113797-26165986	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv1021308	chr7:26116605-26419720	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
16	nsv508449	chr7:26117275-26161137	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv5671	chr7:26118646-26155496	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26118000-26119200	Enhancers	Fetal Intestine Large	intestine
2	chr7:26118000-26119400	Enhancers	Fetal Thymus	thymus
3	chr7:26118200-26119200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
4	chr7:26118200-26119600	Bivalent Enhancer	Colon Smooth Muscle	Colon
5	chr7:26118400-26119200	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr7:26118400-26119200	Enhancers	H1 Cell Line	embryonic stem cell
7	chr7:26118400-26119200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:26118400-26119200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr7:26118400-26119200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
10	chr7:26118400-26119200	Enhancers	Primary T cells from cord blood	blood
11	chr7:26118400-26119200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
12	chr7:26118400-26119200	Active TSS	Fetal Brain Female	brain
13	chr7:26118400-26119400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:26118400-26119600	Enhancers	Fetal Kidney	kidney
15	chr7:26118400-26121200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:26118600-26119200	Bivalent Enhancer	HUVEC	blood vessel
17	chr7:26118800-26119200	Flanking Bivalent TSS/Enh	Dnd41	blood
18	chr7:26118800-26119200	Bivalent/Poised TSS	GM12878-XiMat	blood
19	chr7:26118800-26119200	Enhancers	HepG2	liver
20	chr7:26118800-26119400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:26118800-26119400	Enhancers	H9 Cell Line	embryonic stem cell
22	chr7:26119000-26119200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr7:26119000-26119200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:26119000-26119200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:26119000-26119200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
26	chr7:26119000-26119200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr7:26119000-26119200	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr7:26119000-26119200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
29	chr7:26119000-26119200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
30	chr7:26119000-26119200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
31	chr7:26119000-26119200	Enhancers	Duodenum Mucosa	Duodenum
32	chr7:26119000-26119200	Enhancers	Fetal Brain Male	brain
33	chr7:26119000-26119200	Bivalent Enhancer	Fetal Heart	heart
34	chr7:26119000-26119200	Bivalent Enhancer	Rectal Smooth Muscle	rectum
35	chr7:26119000-26119200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
36	chr7:26119000-26119200	Flanking Bivalent TSS/Enh	A549	lung
37	chr7:26119000-26119600	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr7:26119000-26120000	Weak transcription	Fetal Intestine Small	intestine
39	chr7:26119000-26121000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr7:26119000-26121200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:26119000-26121200	Weak transcription	Placenta	Placenta
42	chr7:26119000-26122200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr7:26119000-26122600	Weak transcription	HMEC	breast

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