Variant report

Variant	rs166612
Chromosome Location	chr1:45113927-45113928
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:45096002..45100159-chr1:45110119..45116077,6	MCF-7	breast:
2	chr1:45107794..45110562-chr1:45112679..45115403,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000187147	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs6698388	0.92[EUR][1000 genomes]
rs72671983	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv1004861	chr1:44843654-45210176	Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
3	nsv534940	chr1:44843654-45210176	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
4	nsv461395	chr1:44898998-45119965	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
5	nsv546144	chr1:44898998-45119965	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
6	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
7	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45098400-45116000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:45099000-45115600	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:45099000-45116800	Strong transcription	H9 Cell Line	embryonic stem cell
4	chr1:45099000-45117400	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr1:45099000-45117800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:45099200-45117600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:45099200-45118400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:45099400-45115000	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr1:45099400-45115600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr1:45099400-45117200	Strong transcription	Placenta	Placenta
11	chr1:45099400-45120800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:45099400-45121000	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:45099400-45121200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:45099600-45114600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:45099600-45115400	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr1:45099600-45115600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:45099600-45117200	Strong transcription	Primary B cells from cord blood	blood
18	chr1:45099600-45117200	Strong transcription	Primary hematopoietic stem cells	blood
19	chr1:45099600-45118200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr1:45099600-45118800	Strong transcription	Fetal Thymus	thymus
21	chr1:45099800-45115400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:45099800-45117400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr1:45099800-45118200	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr1:45099800-45118400	Strong transcription	Thymus	Thymus
25	chr1:45099800-45121200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:45099800-45121600	Strong transcription	Brain Germinal Matrix	brain
27	chr1:45099800-45125600	Strong transcription	Lung	lung
28	chr1:45100000-45117400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr1:45100000-45118600	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr1:45100200-45117400	Strong transcription	HepG2	liver
31	chr1:45100200-45118000	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr1:45100200-45119800	Strong transcription	Primary T cells from cord blood	blood
33	chr1:45100400-45114600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:45100400-45117200	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr1:45100400-45117400	Strong transcription	Primary B cells from peripheral blood	blood
36	chr1:45100400-45118400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr1:45100400-45120800	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr1:45100600-45117200	Strong transcription	Dnd41	blood
39	chr1:45100600-45118400	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr1:45100800-45115400	Strong transcription	GM12878-XiMat	blood
41	chr1:45100800-45117400	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr1:45101000-45118800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:45101200-45118400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr1:45101600-45116800	Genic enhancers	Fetal Muscle Leg	muscle
45	chr1:45102600-45117400	Strong transcription	Left Ventricle	heart
46	chr1:45103600-45121400	Strong transcription	Fetal Brain Female	brain
47	chr1:45104000-45138200	Weak transcription	Fetal Brain Male	brain
48	chr1:45105200-45116800	Strong transcription	K562	blood
49	chr1:45105400-45116600	Genic enhancers	Fetal Muscle Trunk	muscle
50	chr1:45106000-45116200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links