Variant report

Variant	rs11819282
Chromosome Location	chr10:94393998-94393999
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	chr10:94389206..94391321-chr10:94393095..94394615,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11813643	1.00[EUR][1000 genomes]
rs11813799	1.00[EUR][1000 genomes]
rs11814521	1.00[EUR][1000 genomes]
rs11815736	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11817277	1.00[EUR][1000 genomes]
rs12267150	1.00[EUR][1000 genomes]
rs1578672	1.00[EUR][1000 genomes]
rs1889894	1.00[EUR][1000 genomes]
rs28590736	1.00[EUR][1000 genomes]
rs34662862	0.85[AFR][1000 genomes]
rs55770900	1.00[EUR][1000 genomes]
rs56057066	1.00[EUR][1000 genomes]
rs56143704	1.00[EUR][1000 genomes]
rs56310806	1.00[EUR][1000 genomes]
rs57298326	1.00[EUR][1000 genomes]
rs58619531	1.00[EUR][1000 genomes]
rs59489651	1.00[EUR][1000 genomes]
rs61274524	1.00[EUR][1000 genomes]
rs61451715	1.00[EUR][1000 genomes]
rs6583818	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7067733	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7069538	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7073957	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7082686	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7087423	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7098638	1.00[EUR][1000 genomes]
rs7100035	1.00[EUR][1000 genomes]
rs7100357	1.00[EUR][1000 genomes]
rs73311745	1.00[EUR][1000 genomes]
rs73311751	1.00[EUR][1000 genomes]
rs73311753	1.00[EUR][1000 genomes]
rs74149127	1.00[EUR][1000 genomes]
rs7893352	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7896688	1.00[EUR][1000 genomes]
rs7898027	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7910569	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7911751	1.00[EUR][1000 genomes]
rs7913315	1.00[EUR][1000 genomes]
rs7915349	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7916011	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7917817	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046258	chr10:93866969-94466106	Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	esv1792868	chr10:94232247-94409749	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv895894	chr10:94249982-94452430	Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	esv3446249	chr10:94374508-94549394	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv1799475	chr10:94392728-94450386	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers 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	esv1801116	chr10:94392728-94450386	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	esv1839570	chr10:94392728-94450386	Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active 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
8	esv1837497	chr10:94392728-94452430	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	esv1794949	chr10:94392728-94465559	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94353600-94403800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr10:94354000-94420000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr10:94354200-94416000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr10:94362000-94399800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr10:94363600-94410200	Weak transcription	Fetal Kidney	kidney
6	chr10:94364000-94416400	Strong transcription	Dnd41	blood
7	chr10:94364200-94417400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr10:94364400-94403800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr10:94364400-94415200	Weak transcription	Fetal Heart	heart
10	chr10:94365000-94395200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr10:94365600-94415600	Strong transcription	Fetal Thymus	thymus
12	chr10:94366000-94409600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr10:94367200-94411400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr10:94367400-94394000	Weak transcription	Fetal Intestine Large	intestine
15	chr10:94367400-94399600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr10:94371000-94408600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr10:94371000-94414600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr10:94371000-94417000	Weak transcription	Primary B cells from cord blood	blood
19	chr10:94371800-94408800	Weak transcription	Fetal Brain Female	brain
20	chr10:94373600-94399800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr10:94374800-94410400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr10:94374800-94416000	Weak transcription	Placenta	Placenta
23	chr10:94374800-94418600	Weak transcription	Brain Germinal Matrix	brain
24	chr10:94376200-94403600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr10:94379400-94401400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr10:94381400-94395000	Weak transcription	NHDF-Ad	bronchial
27	chr10:94382000-94396000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr10:94382000-94399000	Weak transcription	Fetal Intestine Small	intestine
29	chr10:94383000-94394400	Weak transcription	K562	blood
30	chr10:94383000-94414600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr10:94384000-94414200	Weak transcription	Primary T cells from cord blood	blood
32	chr10:94384000-94416400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr10:94384400-94403800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr10:94384800-94394000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr10:94387400-94396200	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr10:94388200-94395000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr10:94389000-94416400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr10:94389800-94404800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr10:94390000-94394000	Weak transcription	Fetal Muscle Trunk	muscle
40	chr10:94390000-94397000	Weak transcription	HMEC	breast
41	chr10:94390000-94403800	Weak transcription	NHLF	lung
42	chr10:94390200-94395200	Weak transcription	Primary hematopoietic stem cells	blood
43	chr10:94390200-94400000	Weak transcription	Thymus	Thymus
44	chr10:94390400-94394200	Weak transcription	Osteobl	bone
45	chr10:94391200-94401000	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr10:94391400-94396200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr10:94391400-94396600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr10:94391400-94402200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr10:94391400-94402200	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr10:94391400-94415000	Strong transcription	HUES64 Cell Line	embryonic stem cell

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