Variant report

Variant	rs12221233
Chromosome Location	chr10:45903687-45903688
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	chr10:45898269..45903798-chr10:45904032..45907291,6	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10900213	0.99[ASN][1000 genomes]
rs11239507	0.97[EUR][1000 genomes]
rs1369214	0.83[EUR][1000 genomes]
rs2029253	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2115819	0.83[EUR][1000 genomes]
rs2310775	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4949000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7073743	0.82[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	nsv895105	chr10:45636867-45928822	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv430166	chr10:45668894-46148794	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv993428	chr10:45742877-46224333	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv895107	chr10:45850300-45953767	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv895108	chr10:45878908-46224333	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv895109	chr10:45882741-46210665	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	esv3349621	chr10:45882995-45906254	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45871400-45904600	Weak transcription	Gastric	stomach
2	chr10:45884000-45907400	Weak transcription	Spleen	Spleen
3	chr10:45891600-45905200	Weak transcription	Pancreas	Pancrea
4	chr10:45891600-45907000	Weak transcription	Fetal Intestine Small	intestine
5	chr10:45891600-45914200	Weak transcription	Thymus	Thymus
6	chr10:45892000-45907000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr10:45894400-45912800	Weak transcription	Placenta	Placenta
8	chr10:45899400-45914000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr10:45900000-45907000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
10	chr10:45900000-45913000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr10:45900200-45908600	Strong transcription	Primary B cells from peripheral blood	blood
12	chr10:45900800-45904000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr10:45901200-45908400	Strong transcription	Primary B cells from cord blood	blood
14	chr10:45901400-45904600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr10:45901600-45904400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr10:45901600-45913200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr10:45902600-45904400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr10:45902600-45904800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr10:45903000-45904600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr10:45903000-45904600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr10:45903000-45904600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr10:45903200-45904200	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr10:45903200-45905400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr10:45903400-45905400	Enhancers	K562	blood
25	chr10:45903600-45903800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr10:45903600-45903800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr10:45903600-45903800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr10:45903600-45903800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr10:45903600-45904600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr10:45903600-45904600	Genic enhancers	Monocytes-CD14+_RO01746	blood
31	chr10:45903600-45904800	Enhancers	H1 Cell Line	embryonic stem cell
32	chr10:45903600-45904800	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr10:45903600-45906200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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