Variant report

Variant	rs7942413
Chromosome Location	chr11:102200843-102200844
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12281951	1.00[AMR][1000 genomes]
rs12286551	1.00[AMR][1000 genomes]
rs17097416	1.00[AMR][1000 genomes]
rs17097419	1.00[AMR][1000 genomes]
rs17097421	1.00[AMR][1000 genomes]
rs17098241	1.00[AMR][1000 genomes]
rs17878891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17883028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17884964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17887192	1.00[AMR][1000 genomes]
rs1981420	1.00[AMR][1000 genomes]
rs7114012	1.00[AMR][1000 genomes]
rs73577861	1.00[AMR][1000 genomes]
rs73577866	1.00[AMR][1000 genomes]
rs73577873	1.00[AMR][1000 genomes]
rs73577877	1.00[AMR][1000 genomes]
rs73582003	1.00[AMR][1000 genomes]
rs73582018	1.00[AMR][1000 genomes]
rs7945513	0.83[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052348	chr11:101987090-102255753	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv556141	chr11:101988061-102207851	Weak transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1050961	chr11:101993880-102253717	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv1051735	chr11:101993880-102255753	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv530646	chr11:102000840-102238992	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	esv3514195	chr11:102118479-102348362	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv3514197	chr11:102118479-102348362	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv556142	chr11:102192574-102202015	Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv3384244	chr11:102195350-102220898	Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102188800-102216600	Weak transcription	HSMMtube	muscle
2	chr11:102189400-102205800	Weak transcription	Psoas Muscle	Psoas
3	chr11:102189400-102216600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr11:102189400-102216800	Weak transcription	Right Ventricle	heart
5	chr11:102190600-102202800	Weak transcription	Pancreas	Pancrea
6	chr11:102191200-102216800	Weak transcription	Aorta	Aorta
7	chr11:102191200-102217400	Weak transcription	Esophagus	oesophagus
8	chr11:102191600-102202600	Weak transcription	Stomach Mucosa	stomach
9	chr11:102191600-102216600	Weak transcription	Brain Anterior Caudate	brain
10	chr11:102191800-102212600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr11:102193200-102203200	Weak transcription	Ovary	ovary
12	chr11:102194000-102204600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:102194600-102212600	Weak transcription	Dnd41	blood
14	chr11:102194800-102209800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr11:102195000-102202800	Weak transcription	NH-A	brain
16	chr11:102195000-102210400	Weak transcription	HMEC	breast
17	chr11:102195600-102204200	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr11:102196000-102202200	Weak transcription	NHEK	skin
19	chr11:102196000-102202800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr11:102196000-102212200	Weak transcription	Hela-S3	cervix
21	chr11:102196200-102201800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:102196200-102209200	Strong transcription	Liver	Liver
23	chr11:102196400-102202200	Weak transcription	Small Intestine	intestine
24	chr11:102196600-102209600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:102196800-102204000	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr11:102196800-102204200	Strong transcription	Fetal Thymus	thymus
27	chr11:102196800-102204800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr11:102197000-102203600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr11:102197000-102203600	Strong transcription	Duodenum Mucosa	Duodenum
30	chr11:102197000-102203800	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr11:102197000-102204000	Strong transcription	Stomach Smooth Muscle	stomach
32	chr11:102197000-102204800	Strong transcription	Primary T cells from cord blood	blood
33	chr11:102197000-102209800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:102197200-102203400	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr11:102197200-102203600	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr11:102197400-102203200	Strong transcription	Rectal Smooth Muscle	rectum
37	chr11:102197600-102204200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
38	chr11:102197600-102204200	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr11:102197800-102201000	Strong transcription	GM12878-XiMat	blood
40	chr11:102197800-102204200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr11:102197800-102209400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr11:102198000-102204200	Strong transcription	Primary B cells from cord blood	blood
43	chr11:102198200-102203800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr11:102198400-102202400	Weak transcription	Lung	lung
45	chr11:102198400-102203000	Weak transcription	Fetal Intestine Small	intestine
46	chr11:102198400-102209800	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr11:102198400-102210600	Strong transcription	Primary B cells from peripheral blood	blood
48	chr11:102198400-102217400	Weak transcription	Gastric	stomach
49	chr11:102199200-102202400	Strong transcription	Colon Smooth Muscle	Colon
50	chr11:102199200-102203600	Strong transcription	Adipose Nuclei	Adipose

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