Variant report

Variant	rs651853
Chromosome Location	chr11:102365970-102365971
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:102261125..102262046-chr11:102365830..102366754,4	K562	blood:
2	chr11:102218395..102219061-chr11:102365611..102366317,2	MCF-7	breast:
3	chr11:102212239..102213140-chr11:102365720..102366791,5	K562	blood:
4	chr11:102216583..102219205-chr11:102364748..102366652,2	MCF-7	breast:
5	chr11:102261066..102261871-chr11:102365807..102366801,6	MCF-7	breast:
6	chr11:102217635..102219637-chr11:102364748..102366957,2	K562	blood:
7	chr11:102237489..102238797-chr11:102365471..102366746,6	K562	blood:
8	chr11:102258611..102261367-chr11:102365540..102367730,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000110330	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs2019777	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2156530	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs480846	1.00[MEX][hapmap];0.83[TSI][hapmap];0.87[EUR][1000 genomes]
rs490860	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs518851	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs530227	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs539751	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs548841	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs548974	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs557747	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs558679	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs589271	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs602271	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs621010	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs650411	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs652329	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs666042	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs683933	1.00[MEX][hapmap];0.88[TSI][hapmap];0.94[AMR][1000 genomes];0.93[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	nsv1035567	chr11:102264516-102431607	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv469990	chr11:102335609-102413943	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv556150	chr11:102335609-102415859	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv468854	chr11:102336617-102413943	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv556151	chr11:102336617-102413943	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs651853	DYNC2H1	cis	parietal	SCAN

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102363600-102366400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr11:102364200-102366800	Enhancers	Liver	Liver
3	chr11:102364400-102366200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:102364400-102366200	Enhancers	HMEC	breast
5	chr11:102364400-102366400	Enhancers	NHEK	skin
6	chr11:102364400-102366800	Enhancers	Hela-S3	cervix
7	chr11:102364600-102366200	Enhancers	HUVEC	blood vessel
8	chr11:102364800-102366600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr11:102365000-102366200	Enhancers	HSMM	muscle
10	chr11:102365000-102366400	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr11:102365000-102366600	Enhancers	Fetal Intestine Small	intestine
12	chr11:102365000-102366600	Enhancers	NH-A	brain
13	chr11:102365000-102366800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:102365000-102366800	Flanking Active TSS	HepG2	liver
15	chr11:102365200-102366400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:102365200-102366400	Weak transcription	Fetal Intestine Large	intestine
17	chr11:102365200-102366800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:102365200-102366800	Enhancers	Osteobl	bone
19	chr11:102365400-102366000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:102365400-102366800	Enhancers	Duodenum Mucosa	Duodenum
21	chr11:102365400-102366800	Flanking Active TSS	A549	lung
22	chr11:102365600-102366000	Enhancers	HSMMtube	muscle
23	chr11:102365600-102366200	Enhancers	Primary T cells from cord blood	blood
24	chr11:102365600-102366200	Flanking Active TSS	GM12878-XiMat	blood
25	chr11:102365600-102366600	Enhancers	Brain Germinal Matrix	brain
26	chr11:102365600-102366800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:102365600-102366800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr11:102365600-102366800	Enhancers	Colon Smooth Muscle	Colon
29	chr11:102365600-102367000	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr11:102365600-102367200	Enhancers	Stomach Mucosa	stomach
31	chr11:102365800-102366000	Enhancers	Brain Hippocampus Middle	brain
32	chr11:102365800-102366000	Enhancers	Fetal Brain Female	brain
33	chr11:102365800-102366200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
34	chr11:102365800-102366200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr11:102365800-102366200	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr11:102365800-102366200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr11:102365800-102366200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr11:102365800-102366600	Enhancers	Primary B cells from peripheral blood	blood
39	chr11:102365800-102366600	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr11:102365800-102366600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr11:102365800-102366600	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr11:102365800-102366600	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr11:102365800-102366800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:102365800-102366800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr11:102365800-102366800	Enhancers	NHDF-Ad	bronchial
46	chr11:102365800-102367200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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