Variant report

Variant	rs3781867
Chromosome Location	chr11:108565554-108565555
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:108559469..108561902-chr11:108565232..108566792,2	K562	blood:
2	chr11:108565072..108567285-chr11:108567349..108569590,2	K562	blood:

Variant related genes	Relation type
ENSG00000240698	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10749923	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10749926	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10749927	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10749928	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10749929	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10789675	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10789676	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10789677	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10789678	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10789680	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10789681	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10789682	0.90[EUR][1000 genomes]
rs10789683	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10789685	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10789688	0.83[EUR][1000 genomes]
rs10890877	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10890879	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10890883	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10890888	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10890889	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10890893	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10890894	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10890895	0.90[EUR][1000 genomes]
rs10890897	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10890898	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10890899	0.81[EUR][1000 genomes]
rs10890901	0.81[EUR][1000 genomes]
rs10890902	0.83[EUR][1000 genomes]
rs10890903	0.83[EUR][1000 genomes]
rs10890905	0.81[EUR][1000 genomes]
rs11212750	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11212771	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11212774	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11212802	0.83[EUR][1000 genomes]
rs11212811	0.84[EUR][1000 genomes]
rs11530525	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12420572	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1824664	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1824665	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1863366	0.82[EUR][1000 genomes]
rs2169562	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2306118	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3781864	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3781866	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3902843	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4027488	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4237580	0.87[EUR][1000 genomes]
rs4497371	0.81[EUR][1000 genomes]
rs4753849	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4753852	0.84[EUR][1000 genomes]
rs4754354	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4754357	0.82[EUR][1000 genomes]
rs4754358	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4754359	0.84[EUR][1000 genomes]
rs61912810	0.82[EUR][1000 genomes]
rs7103086	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7116062	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7940595	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs890237	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv898388	chr11:108440814-108724639	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv832264	chr11:108449613-108623720	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108536600-108578400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:108538200-108574800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr11:108541400-108578200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:108543600-108575200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:108544200-108569000	Weak transcription	Fetal Heart	heart
6	chr11:108546800-108569400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr11:108548200-108577600	Weak transcription	Colonic Mucosa	Colon
8	chr11:108548400-108577200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr11:108548600-108570200	Weak transcription	Fetal Kidney	kidney
10	chr11:108548600-108577400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:108548800-108577400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:108549000-108565800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr11:108549200-108577400	Weak transcription	Right Ventricle	heart
14	chr11:108554400-108577800	Weak transcription	Psoas Muscle	Psoas
15	chr11:108556200-108566200	Strong transcription	Primary T cells from cord blood	blood
16	chr11:108556200-108566400	Strong transcription	Liver	Liver
17	chr11:108556200-108567000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:108556200-108567400	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr11:108556200-108567800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr11:108556400-108565800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr11:108556400-108566400	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr11:108556400-108566800	Strong transcription	Primary B cells from peripheral blood	blood
23	chr11:108556600-108566400	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr11:108556600-108566800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr11:108556800-108566200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:108556800-108566200	Strong transcription	Adipose Nuclei	Adipose
27	chr11:108556800-108566400	Strong transcription	Primary B cells from cord blood	blood
28	chr11:108556800-108566800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr11:108557600-108566400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:108557800-108566400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:108558000-108578600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr11:108558600-108566000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:108558600-108566000	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr11:108558600-108566600	Strong transcription	Dnd41	blood
35	chr11:108559000-108566000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:108559000-108566000	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr11:108559000-108566200	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr11:108559400-108565800	Strong transcription	Stomach Smooth Muscle	stomach
39	chr11:108559400-108566200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr11:108559600-108565600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr11:108559600-108565600	Strong transcription	Fetal Muscle Leg	muscle
42	chr11:108559600-108566200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr11:108559600-108566400	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr11:108559600-108567400	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr11:108559800-108566200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:108559800-108567600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:108560000-108567600	Strong transcription	Fetal Intestine Large	intestine
48	chr11:108560600-108566200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr11:108560600-108566400	Strong transcription	Fetal Stomach	stomach
50	chr11:108560600-108574600	Weak transcription	Fetal Brain Female	brain

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