Variant report

Variant	rs3016758
Chromosome Location	chr11:64404804-64404805
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	11:64187725-64189071..11:64402707-64415880	K562	blood:

Variant related genes	Relation type
ENSG00000231492	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10466694	1.00[EUR][1000 genomes]
rs11231806	1.00[EUR][1000 genomes]
rs11231811	1.00[EUR][1000 genomes]
rs11231812	1.00[EUR][1000 genomes]
rs11231865	1.00[EUR][1000 genomes]
rs11231866	1.00[EUR][1000 genomes]
rs11821081	1.00[EUR][1000 genomes]
rs1212539	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1212851	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12273948	1.00[EUR][1000 genomes]
rs12281931	1.00[EUR][1000 genomes]
rs12293573	1.00[EUR][1000 genomes]
rs17146100	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17146110	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17146119	0.90[AFR][1000 genomes]
rs1787671	1.00[EUR][1000 genomes]
rs2022049	1.00[EUR][1000 genomes]
rs2518908	1.00[EUR][1000 genomes]
rs2666561	1.00[EUR][1000 genomes]
rs2666562	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2904961	1.00[EUR][1000 genomes]
rs2959651	1.00[EUR][1000 genomes]
rs3016759	0.96[AFR][1000 genomes]
rs41323046	1.00[EUR][1000 genomes]
rs475704	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs512926	1.00[EUR][1000 genomes]
rs516041	1.00[EUR][1000 genomes]
rs534052	0.80[AFR][1000 genomes]
rs534073	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs535606	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs541305	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs545167	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs545819	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs546323	1.00[EUR][1000 genomes]
rs550930	1.00[EUR][1000 genomes]
rs553618	1.00[EUR][1000 genomes]
rs559095	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs559977	1.00[EUR][1000 genomes]
rs56186064	1.00[EUR][1000 genomes]
rs565688	1.00[EUR][1000 genomes]
rs573545	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57371796	1.00[EUR][1000 genomes]
rs579175	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58571986	1.00[EUR][1000 genomes]
rs6591863	1.00[EUR][1000 genomes]
rs7110778	1.00[EUR][1000 genomes]
rs7113097	1.00[EUR][1000 genomes]
rs7127435	1.00[EUR][1000 genomes]
rs73492134	0.97[AFR][1000 genomes]
rs73492139	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73492140	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73492144	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73494206	1.00[EUR][1000 genomes]
rs7948607	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7948832	1.00[EUR][1000 genomes]
rs9326433	1.00[EUR][1000 genomes]
rs9326434	1.00[EUR][1000 genomes]
rs9666331	1.00[EUR][1000 genomes]
rs9666856	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897693	chr11:64305452-64440920	Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv2422214	chr11:64312491-64483418	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv832188	chr11:64315368-64485209	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv468596	chr11:64334114-64527080	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv555195	chr11:64334114-64527080	Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv897694	chr11:64334114-64584959	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
7	nsv818842	chr11:64345448-64546391	Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
8	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
9	nsv555196	chr11:64357072-64559898	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
10	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
11	nsv897696	chr11:64365796-64412877	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv1051350	chr11:64372906-64533632	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
13	nsv555198	chr11:64373899-64573589	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
14	esv1804443	chr11:64386453-64534785	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
15	nsv555199	chr11:64394684-64408646	Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64388600-64405400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr11:64388800-64405400	Weak transcription	Right Atrium	heart
3	chr11:64389200-64405200	Weak transcription	Fetal Kidney	kidney
4	chr11:64390200-64405000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:64397400-64406000	Weak transcription	NHDF-Ad	bronchial
6	chr11:64400200-64408200	Weak transcription	HSMM	muscle
7	chr11:64400600-64405000	Enhancers	Fetal Thymus	thymus
8	chr11:64401400-64405000	Weak transcription	Fetal Lung	lung
9	chr11:64401800-64405800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr11:64402000-64405000	Weak transcription	Primary B cells from cord blood	blood
11	chr11:64402400-64405200	Weak transcription	Spleen	Spleen
12	chr11:64402600-64405200	Enhancers	Fetal Brain Male	brain
13	chr11:64402600-64405800	Weak transcription	HSMMtube	muscle
14	chr11:64402800-64405200	Weak transcription	Ovary	ovary
15	chr11:64403000-64410400	Weak transcription	Aorta	Aorta
16	chr11:64403200-64405000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr11:64403200-64407400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:64403400-64407000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:64403400-64407800	Weak transcription	Osteobl	bone
20	chr11:64404000-64405000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
21	chr11:64404000-64405000	Enhancers	Brain Anterior Caudate	brain
22	chr11:64404000-64405400	Flanking Active TSS	Brain Germinal Matrix	brain
23	chr11:64404200-64405000	Enhancers	Brain Angular Gyrus	brain
24	chr11:64404200-64405000	Enhancers	Colon Smooth Muscle	Colon
25	chr11:64404200-64405200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
26	chr11:64404200-64405200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:64404200-64405200	Enhancers	Fetal Intestine Large	intestine
28	chr11:64404200-64405200	Enhancers	Fetal Intestine Small	intestine
29	chr11:64404200-64405200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr11:64404200-64405200	Bivalent Enhancer	Fetal Stomach	stomach
31	chr11:64404200-64405200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
32	chr11:64404200-64405400	Flanking Active TSS	Fetal Brain Female	brain
33	chr11:64404200-64406400	Enhancers	Brain Substantia Nigra	brain
34	chr11:64404400-64405000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
35	chr11:64404400-64405000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr11:64404400-64405400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:64404400-64405400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:64404400-64405400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr11:64404400-64405400	Flanking Active TSS	Brain Cingulate Gyrus	brain
40	chr11:64404400-64405400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
41	chr11:64404400-64405600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr11:64404400-64405600	Bivalent Enhancer	Fetal Muscle Leg	muscle
43	chr11:64404400-64406600	Enhancers	Primary B cells from peripheral blood	blood
44	chr11:64404600-64405200	Enhancers	H9 Cell Line	embryonic stem cell
45	chr11:64404600-64405200	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr11:64404600-64405400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr11:64404800-64405000	Bivalent Enhancer	Brain Hippocampus Middle	brain
48	chr11:64404800-64405000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr11:64404800-64405000	Enhancers	Rectal Smooth Muscle	rectum
50	chr11:64404800-64405200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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