Variant report

Variant	rs12042800
Chromosome Location	chr1:245930713-245930714
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:245925229..245928212-chr1:245929185..245931454,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12022190	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7524736	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9651299	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007728	chr1:245235174-246156455	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv497871	chr1:245706209-246655353	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv534412	chr1:245747724-246655416	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1003594	chr1:245801793-246649329	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	esv2752867	chr1:245829959-245932959	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1004412	chr1:245830921-246169054	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv535385	chr1:245830921-246169054	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv873404	chr1:245850095-245964511	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS 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	4 gene(s)	inside rSNPs	diseases
9	nsv1006103	chr1:245881486-245968405	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv998007	chr1:245884759-245989362	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	nsv949722	chr1:245898622-245997919	Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	nsv1011255	chr1:245913512-246065050	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv468794	chr1:245914284-245999838	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	nsv549520	chr1:245914284-245999838	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	nsv998801	chr1:245924108-246131115	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv535386	chr1:245924108-246131115	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr1:245910000-245932200	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr1:245910200-245935200	Weak transcription	Ovary	ovary
3	chr1:245910400-245934600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:245911200-245935000	Weak transcription	Right Ventricle	heart
5	chr1:245911800-245943600	Weak transcription	Dnd41	blood
6	chr1:245912000-245932400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:245916200-245934800	Weak transcription	Fetal Stomach	stomach
8	chr1:245916400-245930800	Weak transcription	Spleen	Spleen
9	chr1:245916400-245940000	Weak transcription	Left Ventricle	heart
10	chr1:245918400-245933800	Weak transcription	Pancreas	Pancrea
11	chr1:245920200-245933400	Weak transcription	Adipose Nuclei	Adipose
12	chr1:245920200-245934000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr1:245922000-245933400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:245923000-245932000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr1:245923400-245937200	Weak transcription	Primary B cells from cord blood	blood
16	chr1:245924000-245933400	Strong transcription	K562	blood
17	chr1:245924200-245932600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:245924200-245933800	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr1:245924200-245934800	Weak transcription	Colon Smooth Muscle	Colon
20	chr1:245926200-245933800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:245926400-245935200	Weak transcription	Placenta	Placenta
22	chr1:245926600-245934400	Weak transcription	Primary B cells from peripheral blood	blood
23	chr1:245927400-245933000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr1:245927400-245939400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:245927600-245931400	Weak transcription	HepG2	liver
26	chr1:245927600-245931600	Weak transcription	Primary T cells from cord blood	blood
27	chr1:245927600-245932400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr1:245927600-245933800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:245928200-245932200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr1:245928200-245935200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr1:245928400-245931800	Weak transcription	Fetal Brain Male	brain
32	chr1:245928600-245931400	Weak transcription	Esophagus	oesophagus
33	chr1:245929200-245933000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:245929200-245933000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr1:245929200-245933000	Weak transcription	NHLF	lung
36	chr1:245929200-245933200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:245929200-245933600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:245929200-245934800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:245929200-245934800	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr1:245929400-245933000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:245929400-245933000	Weak transcription	Osteobl	bone
42	chr1:245929400-245933400	Weak transcription	NH-A	brain
43	chr1:245930200-245930800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:245930600-245930800	Strong transcription	Gastric	stomach
45	chr1:245930600-245930800	Strong transcription	Lung	lung
46	chr1:245930600-245931200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:245930600-245931200	Strong transcription	Aorta	Aorta

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