Variant report

Variant	rs80348287
Chromosome Location	chr7:104898868-104898869
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:104890216..104893018-chr7:104897423..104900351,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv8196	chr7:104763559-105155978	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv34580	chr7:104763580-105153242	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv2758127	chr7:104766707-105110581	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1028228	chr7:104807207-105182998	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv932138	chr7:104826194-105152816	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1015688	chr7:104849770-105182998	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv888928	chr7:104897964-104944847	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104869600-104909200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:104879000-104907800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:104885400-104907000	Weak transcription	Fetal Intestine Small	intestine
4	chr7:104886000-104902200	Weak transcription	Lung	lung
5	chr7:104886400-104916600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:104889600-104902200	Weak transcription	HMEC	breast
7	chr7:104891600-104907800	Weak transcription	Aorta	Aorta
8	chr7:104892200-104906600	Weak transcription	Colon Smooth Muscle	Colon
9	chr7:104896400-104909000	Weak transcription	Pancreas	Pancrea
10	chr7:104896600-104900000	Enhancers	Primary B cells from peripheral blood	blood
11	chr7:104896800-104899200	Enhancers	H9 Cell Line	embryonic stem cell
12	chr7:104896800-104899200	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr7:104896800-104902200	Weak transcription	Gastric	stomach
14	chr7:104897000-104899400	Enhancers	Primary B cells from cord blood	blood
15	chr7:104897000-104905400	Weak transcription	Fetal Brain Male	brain
16	chr7:104897200-104899000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr7:104897200-104899000	Enhancers	Brain Hippocampus Middle	brain
18	chr7:104897400-104899000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr7:104897400-104899000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:104897400-104899400	Flanking Active TSS	Dnd41	blood
21	chr7:104897400-104899600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr7:104897600-104899000	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr7:104897600-104902200	Weak transcription	Left Ventricle	heart
24	chr7:104897600-104906800	Weak transcription	Right Ventricle	heart
25	chr7:104897600-104907400	Weak transcription	Right Atrium	heart
26	chr7:104897800-104902000	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr7:104898000-104902000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:104898000-104902000	Weak transcription	Adipose Nuclei	Adipose
29	chr7:104898000-104902000	Weak transcription	Fetal Heart	heart
30	chr7:104898000-104902000	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr7:104898000-104902000	Weak transcription	A549	lung
32	chr7:104898000-104902200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr7:104898000-104902200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:104898000-104902200	Weak transcription	Brain Substantia Nigra	brain
35	chr7:104898000-104902200	Weak transcription	Osteobl	bone
36	chr7:104898000-104902400	Weak transcription	NH-A	brain
37	chr7:104898000-104907200	Weak transcription	Fetal Kidney	kidney
38	chr7:104898200-104901600	Weak transcription	Stomach Mucosa	stomach
39	chr7:104898200-104902200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:104898200-104902200	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr7:104898200-104902200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr7:104898200-104902200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr7:104898200-104902200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr7:104898200-104902200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr7:104898200-104902200	Weak transcription	Liver	Liver
46	chr7:104898200-104902200	Weak transcription	Brain Angular Gyrus	brain
47	chr7:104898200-104902200	Weak transcription	Brain Anterior Caudate	brain
48	chr7:104898200-104902200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr7:104898200-104902200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr7:104898200-104902200	Weak transcription	Duodenum Smooth Muscle	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links