Variant report

Variant	rs77993602
Chromosome Location	chr1:210424117-210424118
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:210313972..210316201-chr1:210423103..210425366,2	MCF-7	breast:
2	chr1:210407733..210410508-chr1:210422643..210424269,2	MCF-7	breast:
3	chr1:210422501..210425086-chr1:210426035..210428636,3	MCF-7	breast:
4	chr1:210413923..210415474-chr1:210422643..210424699,2	MCF-7	breast:
5	chr1:210424072..210425856-chr1:210442744..210445693,2	MCF-7	breast:
6	chr1:210423750..210428226-chr1:210545532..210548687,6	MCF-7	breast:
7	chr1:210417487..210419206-chr1:210423476..210426436,2	MCF-7	breast:
8	chr1:210404569..210409056-chr1:210423278..210427525,11	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000200972	Chromatin interaction
ENSG00000203706	Chromatin interaction
ENSG00000082497	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv8769	chr1:210403509-210564588	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking 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 target site	126 gene(s)	inside rSNPs	diseases
3	esv3373545	chr1:210423754-210426302	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210407800-210424200	Weak transcription	Pancreas	Pancrea
2	chr1:210410800-210424200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:210414000-210424200	Weak transcription	Aorta	Aorta
4	chr1:210414000-210424400	Weak transcription	Ovary	ovary
5	chr1:210420200-210424200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:210423200-210424800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:210423600-210424200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:210423600-210424200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:210423600-210424200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:210423600-210424200	Bivalent Enhancer	Primary B cells from cord blood	blood
11	chr1:210423600-210424200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr1:210423600-210424200	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr1:210423600-210424200	Enhancers	HMEC	breast
14	chr1:210423600-210424200	Enhancers	HUVEC	blood vessel
15	chr1:210423600-210424400	Enhancers	Fetal Kidney	kidney
16	chr1:210423600-210424600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr1:210423600-210424600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr1:210423600-210424800	Enhancers	Small Intestine	intestine
19	chr1:210423600-210428000	Enhancers	Fetal Heart	heart
20	chr1:210423800-210424200	Enhancers	Primary B cells from peripheral blood	blood
21	chr1:210423800-210424200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:210423800-210424200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:210423800-210424200	Flanking Active TSS	Brain Anterior Caudate	brain
24	chr1:210423800-210424200	Enhancers	Brain Substantia Nigra	brain
25	chr1:210423800-210424200	Enhancers	Colon Smooth Muscle	Colon
26	chr1:210423800-210424200	Bivalent Enhancer	Fetal Intestine Large	intestine
27	chr1:210423800-210424400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:210423800-210424400	Bivalent Enhancer	Fetal Intestine Small	intestine
29	chr1:210423800-210424400	Bivalent Enhancer	Fetal Stomach	stomach
30	chr1:210423800-210424400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
31	chr1:210423800-210424400	Enhancers	HSMM	muscle
32	chr1:210423800-210424400	Enhancers	NHDF-Ad	bronchial
33	chr1:210423800-210424600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:210423800-210424600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:210423800-210424600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:210423800-210424600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr1:210423800-210424600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr1:210423800-210424600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr1:210423800-210424600	Flanking Active TSS	Brain Germinal Matrix	brain
40	chr1:210423800-210424600	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr1:210423800-210424800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:210423800-210425000	Bivalent Enhancer	NHLF	lung
43	chr1:210423800-210426600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:210424000-210424200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
45	chr1:210424000-210424200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:210424000-210424200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:210424000-210424200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:210424000-210424200	Active TSS	Adipose Nuclei	Adipose
49	chr1:210424000-210424200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
50	chr1:210424000-210424200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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