Variant report

Variant	rs12078445
Chromosome Location	chr1:228901765-228901766
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2144276	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4654628	0.88[ASN][1000 genomes]
rs68046340	0.84[AMR][1000 genomes]
rs7518686	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][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	nsv1013051	chr1:228786702-228903706	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv997801	chr1:228786702-228975127	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv870365	chr1:228788356-229267904	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv998255	chr1:228791784-228919202	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv549299	chr1:228793246-229455876	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv468316	chr1:228854703-228919202	Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv549300	chr1:228854703-228919202	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228900400-228904600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr1:228900600-228901800	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr1:228900600-228902000	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr1:228900600-228903400	Enhancers	Fetal Thymus	thymus
5	chr1:228900600-228904000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:228900800-228902000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:228900800-228902400	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr1:228900800-228902800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr1:228900800-228903400	Enhancers	Primary T cells fromperipheralblood	blood
10	chr1:228901000-228901800	Enhancers	Primary B cells from peripheral blood	blood
11	chr1:228901000-228901800	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr1:228901000-228901800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr1:228901000-228901800	Enhancers	Fetal Intestine Large	intestine
14	chr1:228901000-228901800	Enhancers	Fetal Intestine Small	intestine
15	chr1:228901000-228901800	Enhancers	Pancreas	Pancrea
16	chr1:228901000-228902000	Enhancers	Primary T cells from cord blood	blood
17	chr1:228901000-228906200	Weak transcription	Fetal Lung	lung
18	chr1:228901200-228901800	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr1:228901200-228901800	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr1:228901200-228901800	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr1:228901200-228901800	Enhancers	Placenta Amnion	Placenta Amnion
22	chr1:228901200-228901800	Enhancers	Thymus	Thymus
23	chr1:228901400-228901800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr1:228901400-228901800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr1:228901400-228901800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr1:228901400-228901800	Enhancers	Duodenum Mucosa	Duodenum
27	chr1:228901400-228901800	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr1:228901400-228901800	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr1:228901400-228901800	Enhancers	Small Intestine	intestine
30	chr1:228901400-228901800	Enhancers	Stomach Mucosa	stomach
31	chr1:228901400-228901800	Enhancers	HepG2	liver
32	chr1:228901400-228902000	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr1:228901400-228902200	Enhancers	Primary B cells from cord blood	blood
34	chr1:228901600-228901800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr1:228901600-228910000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr1:228901600-228910600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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