Variant report

Variant	rs41274806
Chromosome Location	chr1:221066967-221066968
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17009101	0.82[EUR][1000 genomes]
rs17009107	0.82[EUR][1000 genomes]
rs41441946	1.00[EUR][1000 genomes]
rs4846674	0.82[EUR][1000 genomes]
rs58419507	0.82[EUR][1000 genomes]
rs6679501	0.82[EUR][1000 genomes]
rs73102756	0.82[EUR][1000 genomes]

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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	esv1798350	chr1:221020278-221069740	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221064000-221067000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
2	chr1:221064400-221067600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:221065200-221067000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
4	chr1:221065400-221067000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:221065600-221067200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
6	chr1:221066200-221067000	Enhancers	Colon Smooth Muscle	Colon
7	chr1:221066200-221067200	Bivalent Enhancer	Brain Substantia Nigra	brain
8	chr1:221066200-221068000	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
9	chr1:221066200-221068000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
10	chr1:221066200-221070000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr1:221066400-221067000	Bivalent Enhancer	Brain Hippocampus Middle	brain
12	chr1:221066400-221067200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:221066400-221067200	Enhancers	Pancreas	Pancrea
14	chr1:221066400-221067200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
15	chr1:221066400-221067400	Bivalent Enhancer	Fetal Thymus	thymus
16	chr1:221066400-221067400	Enhancers	Gastric	stomach
17	chr1:221066400-221068000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
18	chr1:221066600-221067000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
19	chr1:221066600-221067000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:221066600-221067000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
21	chr1:221066600-221067000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
22	chr1:221066600-221067000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
23	chr1:221066600-221067200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
24	chr1:221066600-221067600	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:221066600-221067800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
26	chr1:221066600-221068200	Active TSS	Right Atrium	heart
27	chr1:221066800-221067000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:221066800-221067000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
29	chr1:221066800-221067000	Weak transcription	Spleen	Spleen
30	chr1:221066800-221067200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:221066800-221067200	Bivalent Enhancer	Liver	Liver
32	chr1:221066800-221067200	Bivalent Enhancer	Brain Cingulate Gyrus	brain
33	chr1:221066800-221067200	Enhancers	Right Ventricle	heart
34	chr1:221066800-221067200	Bivalent Enhancer	HUVEC	blood vessel
35	chr1:221066800-221067400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain

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