Variant report

Variant	rs12029722
Chromosome Location	chr1:221880195-221880196
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	chr1:221878250..221880861-chr1:221881070..221882576,2	MCF-7	breast:
2	chr1:221879388..221881826-chr1:221914784..221917945,4	K562	blood:

Variant related genes	Relation type
ENSG00000143507	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12126069	0.90[ASN][1000 genomes]
rs12405549	0.97[EUR][1000 genomes]
rs12749729	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7518519	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221863800-221888600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:221870000-221885400	Weak transcription	NHEK	skin
3	chr1:221870600-221880600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr1:221871200-221885800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:221871400-221880800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:221872200-221882400	Weak transcription	Psoas Muscle	Psoas
7	chr1:221872800-221881200	Strong transcription	HMEC	breast
8	chr1:221873000-221881600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr1:221873000-221882600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:221873200-221885200	Weak transcription	NH-A	brain
11	chr1:221873800-221882600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr1:221873800-221882600	Weak transcription	Small Intestine	intestine
13	chr1:221873800-221885200	Weak transcription	Hela-S3	cervix
14	chr1:221874000-221880200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:221874000-221880600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:221874200-221880200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr1:221874200-221881200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr1:221874200-221882600	Weak transcription	Fetal Intestine Small	intestine
19	chr1:221874400-221880800	Strong transcription	NHDF-Ad	bronchial
20	chr1:221874400-221882400	Weak transcription	Gastric	stomach
21	chr1:221875200-221880400	Strong transcription	Adipose Nuclei	Adipose
22	chr1:221875200-221880400	Strong transcription	NHLF	lung
23	chr1:221875200-221880600	Strong transcription	GM12878-XiMat	blood
24	chr1:221875400-221880200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:221875400-221889600	Weak transcription	Fetal Kidney	kidney
26	chr1:221875600-221881000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:221875600-221881400	Weak transcription	HepG2	liver
28	chr1:221876600-221881600	Weak transcription	Fetal Brain Male	brain
29	chr1:221877200-221880400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr1:221877200-221881400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr1:221877400-221880400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr1:221877400-221889200	Weak transcription	Colonic Mucosa	Colon
33	chr1:221877600-221882400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:221878000-221880200	Strong transcription	Aorta	Aorta
35	chr1:221878000-221880200	Strong transcription	Fetal Stomach	stomach
36	chr1:221878000-221885400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:221878200-221880400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:221878200-221880600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:221878200-221882200	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr1:221878400-221880800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:221878600-221880200	Strong transcription	Primary T cells from cord blood	blood
42	chr1:221878600-221882200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr1:221878800-221880200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:221878800-221880400	Genic enhancers	Primary hematopoietic stem cells	blood
45	chr1:221878800-221880400	Genic enhancers	Brain Anterior Caudate	brain
46	chr1:221879200-221880400	Strong transcription	Liver	Liver
47	chr1:221879200-221880400	Enhancers	Rectal Smooth Muscle	rectum
48	chr1:221879200-221881400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:221879200-221881800	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr1:221879400-221880400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--

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