Variant report

Variant	rs552319573
Chromosome Location	chr7:65673367-65673368
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:65673035..65675351-chr7:65772228..65774640,2	K562	blood:
2	chr7:65669820..65671702-chr7:65672319..65674311,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169902	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
4	nsv1028692	chr7:65673136-65751069	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv538908	chr7:65673136-65751069	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65670800-65673400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr7:65671000-65673400	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr7:65671200-65673400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr7:65671200-65673600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:65671400-65674400	Enhancers	Primary B cells from peripheral blood	blood
6	chr7:65671400-65674800	Weak transcription	Fetal Intestine Large	intestine
7	chr7:65671400-65675000	Weak transcription	Esophagus	oesophagus
8	chr7:65671400-65675800	Weak transcription	Lung	lung
9	chr7:65671400-65676200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:65671400-65677000	Weak transcription	Placenta	Placenta
11	chr7:65671400-65678800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr7:65671600-65673400	Enhancers	Fetal Stomach	stomach
13	chr7:65671600-65675000	Weak transcription	Gastric	stomach
14	chr7:65671600-65685400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:65671600-65689000	Weak transcription	Pancreas	Pancrea
16	chr7:65671800-65673400	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr7:65671800-65673400	Enhancers	NHEK	skin
18	chr7:65671800-65673600	Enhancers	Colon Smooth Muscle	Colon
19	chr7:65671800-65674800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr7:65671800-65675200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:65671800-65675600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr7:65671800-65675600	Weak transcription	Stomach Mucosa	stomach
23	chr7:65671800-65677600	Weak transcription	Fetal Muscle Leg	muscle
24	chr7:65671800-65677600	Weak transcription	Spleen	Spleen
25	chr7:65671800-65682200	Weak transcription	Left Ventricle	heart
26	chr7:65672000-65674000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:65672000-65677000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr7:65672200-65673400	Enhancers	Brain Anterior Caudate	brain
29	chr7:65672200-65677200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr7:65672200-65677400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr7:65672200-65677600	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr7:65672200-65678000	Weak transcription	HSMM	muscle
33	chr7:65672200-65678800	Weak transcription	HUVEC	blood vessel
34	chr7:65672200-65687400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:65672200-65723400	Weak transcription	Right Atrium	heart
36	chr7:65672400-65673400	Enhancers	Primary hematopoietic stem cells	blood
37	chr7:65672400-65673400	Enhancers	Brain Cingulate Gyrus	brain
38	chr7:65672400-65673400	Enhancers	Fetal Lung	lung
39	chr7:65672400-65673400	Flanking Active TSS	Osteobl	bone
40	chr7:65672400-65673800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:65672400-65675000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr7:65672400-65675200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr7:65672400-65677000	Weak transcription	Fetal Brain Male	brain
44	chr7:65672400-65678800	Weak transcription	NH-A	brain
45	chr7:65672600-65673600	Enhancers	Primary B cells from cord blood	blood
46	chr7:65672600-65676600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:65672600-65687600	Weak transcription	Brain Germinal Matrix	brain
48	chr7:65672800-65673400	Enhancers	Primary T cells from cord blood	blood
49	chr7:65673000-65673400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr7:65673000-65673400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links