Variant report

Variant	rs12134869
Chromosome Location	chr1:221899723-221899724
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:221899643..221902280-chr1:221903912..221907018,3	K562	blood:
2	chr1:221895037..221902178-chr1:221912556..221917116,9	K562	blood:

Variant related genes	Relation type
ENSG00000143507	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10863650	0.92[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12129426	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12134197	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4275462	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6689267	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs6693577	1.00[CEU][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7534227	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]

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	nsv469786	chr1:221855871-222040335	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482867	chr1:221855871-222040335	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv1007092	chr1:221883491-221958279	Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv535303	chr1:221883491-221958279	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221879600-221902400	Enhancers	Brain Substantia Nigra	brain
2	chr1:221888000-221903000	Enhancers	Brain Hippocampus Middle	brain
3	chr1:221890800-221906400	Weak transcription	Right Ventricle	heart
4	chr1:221890800-221910200	Weak transcription	Lung	lung
5	chr1:221891800-221911000	Weak transcription	Gastric	stomach
6	chr1:221891800-221913000	Weak transcription	Fetal Intestine Large	intestine
7	chr1:221892400-221901400	Weak transcription	Small Intestine	intestine
8	chr1:221893000-221913600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:221894600-221899800	Enhancers	Brain Angular Gyrus	brain
10	chr1:221895200-221900800	Enhancers	Brain Cingulate Gyrus	brain
11	chr1:221895400-221901400	Enhancers	Brain Anterior Caudate	brain
12	chr1:221895400-221901800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:221896000-221899800	Enhancers	NH-A	brain
14	chr1:221896000-221900200	Enhancers	Hela-S3	cervix
15	chr1:221896600-221903200	Weak transcription	Fetal Stomach	stomach
16	chr1:221897000-221903600	Weak transcription	Left Ventricle	heart
17	chr1:221897200-221907800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:221897200-221914200	Weak transcription	Aorta	Aorta
19	chr1:221897400-221908800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr1:221897400-221913400	Weak transcription	HepG2	liver
21	chr1:221897600-221899800	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr1:221897600-221900800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:221897600-221902600	Weak transcription	Fetal Lung	lung
24	chr1:221897600-221903600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr1:221897600-221906800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:221897600-221908000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:221897600-221910200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:221897800-221900400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr1:221897800-221900600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:221897800-221903600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr1:221897800-221904000	Genic enhancers	HMEC	breast
32	chr1:221898000-221899800	Enhancers	Adipose Nuclei	Adipose
33	chr1:221898000-221899800	Enhancers	Stomach Mucosa	stomach
34	chr1:221898000-221899800	Enhancers	NHEK	skin
35	chr1:221898000-221900400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:221898000-221900400	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr1:221898000-221903200	Enhancers	Rectal Smooth Muscle	rectum
38	chr1:221898000-221904000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:221898000-221906400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr1:221898200-221902000	Enhancers	Primary B cells from peripheral blood	blood
41	chr1:221898200-221903400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr1:221898400-221899800	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr1:221898400-221900200	Enhancers	Primary hematopoietic stem cells	blood
44	chr1:221898400-221900400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr1:221898400-221901200	Weak transcription	Psoas Muscle	Psoas
46	chr1:221898400-221902000	Enhancers	Primary T cells fromperipheralblood	blood
47	chr1:221898400-221903600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr1:221898400-221903800	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr1:221898600-221900000	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr1:221898600-221900800	Enhancers	Primary B cells from cord blood	blood

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