Variant report

Variant	rs478625
Chromosome Location	chr11:107402219-107402220
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:107402012..107404906-chr11:107408534..107410570,3	K562	blood:
2	chr11:107399887..107402432-chr11:107404521..107406655,2	K562	blood:
3	chr11:107402166..107405031-chr11:107412950..107414876,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10502095	1.00[EUR][1000 genomes]
rs11212247	1.00[EUR][1000 genomes]
rs11212249	1.00[EUR][1000 genomes]
rs11212252	1.00[EUR][1000 genomes]
rs11212267	1.00[EUR][1000 genomes]
rs12285786	1.00[EUR][1000 genomes]
rs12293353	1.00[EUR][1000 genomes]
rs12421850	1.00[EUR][1000 genomes]
rs17107135	1.00[EUR][1000 genomes]
rs509186	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs519800	1.00[YRI][hapmap]
rs529552	1.00[EUR][1000 genomes]
rs55928933	1.00[EUR][1000 genomes]
rs564837	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs590334	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs602435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61200975	1.00[EUR][1000 genomes]
rs617109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs633192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs633430	1.00[YRI][hapmap]
rs636820	1.00[YRI][hapmap]
rs639556	1.00[YRI][hapmap]
rs657344	1.00[YRI][hapmap]
rs680830	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs684139	0.90[YRI][hapmap]
rs7121279	1.00[EUR][1000 genomes]
rs7123777	1.00[EUR][1000 genomes]
rs7928774	1.00[EUR][1000 genomes]
rs9943533	1.00[EUR][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:106 , 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	chr11:107373200-107405800	Weak transcription	NHEK	skin
12	chr11:107373200-107407400	Weak transcription	Esophagus	oesophagus
13	chr11:107373200-107421000	Weak transcription	Spleen	Spleen
14	chr11:107373200-107423200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr11:107373400-107407400	Weak transcription	GM12878-XiMat	blood
16	chr11:107373800-107409200	Weak transcription	HepG2	liver
17	chr11:107375600-107414600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr11:107375800-107402400	Weak transcription	Fetal Thymus	thymus
19	chr11:107375800-107407000	Weak transcription	Brain Hippocampus Middle	brain
20	chr11:107376000-107402400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr11:107376000-107407400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr11:107376000-107415600	Weak transcription	Brain Angular Gyrus	brain
23	chr11:107376000-107421000	Weak transcription	Thymus	Thymus
24	chr11:107376600-107415400	Weak transcription	Ovary	ovary
25	chr11:107376600-107434600	Weak transcription	Lung	lung
26	chr11:107376800-107406200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr11:107376800-107406400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr11:107376800-107421000	Weak transcription	Aorta	Aorta
29	chr11:107376800-107434600	Weak transcription	Psoas Muscle	Psoas
30	chr11:107377000-107432600	Weak transcription	K562	blood
31	chr11:107378600-107433800	Weak transcription	Fetal Kidney	kidney
32	chr11:107381400-107414800	Weak transcription	NH-A	brain
33	chr11:107381800-107406000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr11:107381800-107415600	Weak transcription	NHDF-Ad	bronchial
35	chr11:107382000-107434200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr11:107384600-107406400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr11:107387200-107406400	Weak transcription	HSMMtube	muscle
38	chr11:107389800-107402400	Weak transcription	Fetal Muscle Leg	muscle
39	chr11:107389800-107406400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:107389800-107407400	Weak transcription	Gastric	stomach
41	chr11:107389800-107434600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr11:107389800-107435600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:107390000-107402400	Weak transcription	Left Ventricle	heart
44	chr11:107390000-107413200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr11:107390000-107421000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr11:107390000-107423000	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr11:107390200-107406400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:107390600-107406000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:107390600-107418800	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr11:107391200-107402400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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