Variant report

Variant	rs1123217
Chromosome Location	chr1:162040595-162040596
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:162030881..162032483-chr1:162039899..162041427,2	MCF-7	breast:
2	chr1:162039943..162041995-chr1:162128877..162130460,2	MCF-7	breast:
3	chr1:162040025..162041549-chr1:162136640..162139515,2	MCF-7	breast:
4	chr1:162034513..162046128-chr1:162124602..162140186,38	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266144	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10753758	1.00[MEX][hapmap]
rs12140791	0.90[TSI][hapmap]
rs16842397	1.00[CEU][hapmap]
rs6666546	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv464206	chr1:161798239-162067447	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv470744	chr1:161798239-162067447	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv548077	chr1:161798239-162067447	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv831747	chr1:161926367-162103311	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	esv3327553	chr1:162038353-162040901	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:162038800-162040600	Active TSS	Brain Angular Gyrus	brain
2	chr1:162038800-162040800	Active TSS	H9 Cell Line	embryonic stem cell
3	chr1:162038800-162040800	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr1:162038800-162040800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:162038800-162041400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr1:162038800-162041400	Active TSS	Colon Smooth Muscle	Colon
7	chr1:162039000-162040600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:162039000-162040600	Active TSS	Liver	Liver
9	chr1:162039000-162040600	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr1:162039000-162040600	Active TSS	Esophagus	oesophagus
11	chr1:162039000-162040600	Active TSS	Pancreas	Pancrea
12	chr1:162039000-162040800	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr1:162039000-162040800	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr1:162039000-162040800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:162039000-162040800	Active TSS	Aorta	Aorta
16	chr1:162039000-162040800	Active TSS	Colonic Mucosa	Colon
17	chr1:162039000-162040800	Active TSS	Fetal Kidney	kidney
18	chr1:162039000-162040800	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr1:162039000-162040800	Active TSS	Gastric	stomach
20	chr1:162039000-162041000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:162039000-162041000	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr1:162039000-162041200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:162039000-162041400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:162039000-162041400	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr1:162039200-162040600	Active TSS	H1 Cell Line	embryonic stem cell
26	chr1:162039200-162040600	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr1:162039200-162040600	Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr1:162039200-162040600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:162039200-162040600	Active TSS	Brain Hippocampus Middle	brain
30	chr1:162039200-162040600	Active TSS	Small Intestine	intestine
31	chr1:162039200-162040800	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr1:162039200-162041600	Bivalent/Poised TSS	HSMMtube	muscle
33	chr1:162039600-162040600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:162039800-162040600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
35	chr1:162039800-162040600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
36	chr1:162039800-162040600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:162039800-162040600	Bivalent/Poised TSS	Stomach Mucosa	stomach
38	chr1:162039800-162040600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
39	chr1:162039800-162040800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:162039800-162040800	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr1:162039800-162040800	Flanking Active TSS	HMEC	breast
42	chr1:162039800-162041200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
43	chr1:162040000-162040600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr1:162040000-162040600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
45	chr1:162040000-162040600	Active TSS	Fetal Brain Male	brain
46	chr1:162040000-162040600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
47	chr1:162040000-162040600	Flanking Bivalent TSS/Enh	Placenta	Placenta
48	chr1:162040000-162040600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
49	chr1:162040000-162040600	Active TSS	Right Atrium	heart
50	chr1:162040000-162040800	Flanking Active TSS	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links