Variant report

Variant	rs389693
Chromosome Location	chr1:212337233-212337234
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212335340..212337440-chr1:212339249..212341604,3	K562	blood:
2	chr1:212335240..212337640-chr1:212359354..212362015,2	K562	blood:
3	chr1:212323808..212327090-chr1:212336876..212338503,3	K562	blood:
4	chr1:212324486..212328323-chr1:212335764..212338503,4	K562	blood:
5	chr1:212335142..212337440-chr1:212338165..212340749,2	K562	blood:

Variant related genes	Relation type
ENSG00000229983	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12131750	1.00[JPT][hapmap]

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	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers 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	114 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212309000-212347200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:212324600-212340400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:212332800-212337600	Enhancers	Thymus	Thymus
4	chr1:212333000-212342000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:212335800-212340400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:212336000-212339600	Weak transcription	Adipose Nuclei	Adipose
7	chr1:212336000-212339600	Weak transcription	Right Ventricle	heart
8	chr1:212336200-212340000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:212336200-212340000	Weak transcription	Osteobl	bone
10	chr1:212336200-212340400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:212336400-212337800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:212336400-212337800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:212336400-212339800	Weak transcription	Aorta	Aorta
14	chr1:212336400-212339800	Weak transcription	Stomach Mucosa	stomach
15	chr1:212336400-212339800	Weak transcription	NHDF-Ad	bronchial
16	chr1:212336400-212340200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:212336400-212340200	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr1:212336400-212340200	Weak transcription	Brain Hippocampus Middle	brain
19	chr1:212336400-212340200	Weak transcription	Fetal Stomach	stomach
20	chr1:212336400-212340200	Weak transcription	HSMM	muscle
21	chr1:212336400-212340400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:212336400-212340400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:212336400-212340400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr1:212336600-212339000	Weak transcription	HUVEC	blood vessel
25	chr1:212336600-212339600	Weak transcription	Spleen	Spleen
26	chr1:212336600-212339800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:212336600-212339800	Weak transcription	NHLF	lung
28	chr1:212336600-212340200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:212336600-212340200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:212336600-212340200	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr1:212336600-212340200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:212336600-212340400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr1:212336600-212340400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr1:212336800-212339200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr1:212336800-212339600	Weak transcription	Fetal Thymus	thymus
36	chr1:212336800-212339600	Weak transcription	Left Ventricle	heart
37	chr1:212336800-212339600	Weak transcription	Lung	lung
38	chr1:212336800-212339600	Weak transcription	Psoas Muscle	Psoas
39	chr1:212336800-212339600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr1:212336800-212340000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr1:212336800-212340400	Weak transcription	Right Atrium	heart
42	chr1:212336800-212359600	Weak transcription	Dnd41	blood
43	chr1:212337000-212339000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr1:212337200-212338800	Enhancers	GM12878-XiMat	blood
45	chr1:212337200-212339200	Weak transcription	K562	blood
46	chr1:212337200-212339400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr1:212337200-212340200	Weak transcription	Primary T cells from cord blood	blood

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