Variant report

Variant	rs548790
Chromosome Location	chr11:107406278-107406279
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	chr11:107399887..107402432-chr11:107404521..107406655,2	K562	blood:
2	chr11:107405244..107407798-chr11:107410887..107412865,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs2463658	0.84[AMR][1000 genomes]
rs2509203	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs471668	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs484178	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs499413	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs499499	0.82[ASN][1000 genomes]
rs526014	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs534991	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs536915	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs559875	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs578607	0.85[CHB][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs608464	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs614371	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs627103	0.83[AMR][1000 genomes]
rs630805	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs632033	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs632902	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs635577	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs638234	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs645056	0.86[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs645225	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs645663	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs658245	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs664897	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs669588	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898365	chr11:106944975-107430300	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv898366	chr11:106944975-107433835	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv898367	chr11:106944975-107443420	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv898369	chr11:106958304-107443420	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv898370	chr11:107027991-107430300	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv898372	chr11:107049968-107433835	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1038368	chr11:107116577-107664181	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv541163	chr11:107116577-107664181	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv898373	chr11:107124903-107433835	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv556376	chr11:107250851-107486598	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv898376	chr11:107299631-107443420	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS 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	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107369200-107406400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr11:107370000-107433800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr11:107371200-107421200	Weak transcription	Right Ventricle	heart
4	chr11:107372000-107435600	Weak transcription	Colonic Mucosa	Colon
5	chr11:107372800-107409600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:107372800-107434600	Weak transcription	Placenta	Placenta
7	chr11:107373000-107414800	Weak transcription	Brain Anterior Caudate	brain
8	chr11:107373000-107415200	Weak transcription	Osteobl	bone
9	chr11:107373000-107421000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:107373000-107421400	Weak transcription	Brain Germinal Matrix	brain
11	chr11:107373200-107407400	Weak transcription	Esophagus	oesophagus
12	chr11:107373200-107421000	Weak transcription	Spleen	Spleen
13	chr11:107373200-107423200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr11:107373400-107407400	Weak transcription	GM12878-XiMat	blood
15	chr11:107373800-107409200	Weak transcription	HepG2	liver
16	chr11:107375600-107414600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr11:107375800-107407000	Weak transcription	Brain Hippocampus Middle	brain
18	chr11:107376000-107407400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr11:107376000-107415600	Weak transcription	Brain Angular Gyrus	brain
20	chr11:107376000-107421000	Weak transcription	Thymus	Thymus
21	chr11:107376600-107415400	Weak transcription	Ovary	ovary
22	chr11:107376600-107434600	Weak transcription	Lung	lung
23	chr11:107376800-107406400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr11:107376800-107421000	Weak transcription	Aorta	Aorta
25	chr11:107376800-107434600	Weak transcription	Psoas Muscle	Psoas
26	chr11:107377000-107432600	Weak transcription	K562	blood
27	chr11:107378600-107433800	Weak transcription	Fetal Kidney	kidney
28	chr11:107381400-107414800	Weak transcription	NH-A	brain
29	chr11:107381800-107415600	Weak transcription	NHDF-Ad	bronchial
30	chr11:107382000-107434200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr11:107384600-107406400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr11:107387200-107406400	Weak transcription	HSMMtube	muscle
33	chr11:107389800-107406400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:107389800-107407400	Weak transcription	Gastric	stomach
35	chr11:107389800-107434600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr11:107389800-107435600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:107390000-107413200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr11:107390000-107421000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:107390000-107423000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr11:107390200-107406400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:107390600-107418800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr11:107391400-107414600	Weak transcription	HUVEC	blood vessel
43	chr11:107392400-107417400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr11:107393200-107406400	Weak transcription	Fetal Intestine Large	intestine
45	chr11:107393400-107406400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr11:107394000-107415400	Weak transcription	Brain Substantia Nigra	brain
47	chr11:107394400-107421000	Weak transcription	Fetal Stomach	stomach
48	chr11:107395200-107407200	Weak transcription	Fetal Intestine Small	intestine
49	chr11:107395200-107431800	Weak transcription	A549	lung
50	chr11:107396200-107406400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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