Variant report

Variant	rs6943365
Chromosome Location	chr7:5184088-5184089
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MMD2-3	chr7:5183878-5184177	NR_034163

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11765350	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11768814	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12671440	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12672204	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56054124	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56325633	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62442011	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6946651	0.82[EUR][1000 genomes]
rs6968392	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7808305	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1031697	chr7:4677463-5241790	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv538704	chr7:4677463-5241790	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
5	nsv1029430	chr7:5053887-5223583	Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv1032880	chr7:5066181-5205932	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1030384	chr7:5066181-5210555	Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
9	nsv1031007	chr7:5101766-5262695	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv916396	chr7:5128917-5370805	Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	nsv1027026	chr7:5132597-5188557	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv605982	chr7:5133219-5222956	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv523630	chr7:5144105-5198328	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
15	nsv433016	chr7:5157617-5215853	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	esv2762643	chr7:5172994-5216265	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5182800-5184200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
2	chr7:5182800-5184600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:5183200-5184200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr7:5183200-5184200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
5	chr7:5183400-5184200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
6	chr7:5183400-5184200	Active TSS	Brain Anterior Caudate	brain
7	chr7:5183400-5184400	Enhancers	Primary B cells from cord blood	blood
8	chr7:5183400-5184400	Active TSS	Brain Cingulate Gyrus	brain
9	chr7:5183400-5184400	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr7:5183400-5184400	Active TSS	Hela-S3	cervix
11	chr7:5183600-5184200	Active TSS	Primary T cells from cord blood	blood
12	chr7:5183800-5184200	Flanking Active TSS	Primary B cells from peripheral blood	blood
13	chr7:5183800-5184200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
14	chr7:5183800-5184200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
15	chr7:5183800-5184200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr7:5183800-5184200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr7:5183800-5184200	Active TSS	Brain Hippocampus Middle	brain
18	chr7:5183800-5184200	Bivalent Enhancer	Fetal Intestine Large	intestine
19	chr7:5183800-5184200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr7:5183800-5184200	Flanking Active TSS	Fetal Thymus	thymus
21	chr7:5183800-5184200	Active TSS	HepG2	liver
22	chr7:5183800-5184400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr7:5183800-5184400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:5183800-5184400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:5183800-5184400	Enhancers	Spleen	Spleen
26	chr7:5183800-5184600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:5183800-5184600	Flanking Active TSS	GM12878-XiMat	blood
28	chr7:5184000-5184200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:5184000-5184200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
30	chr7:5184000-5184200	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr7:5184000-5184200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr7:5184000-5184200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr7:5184000-5184200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:5184000-5184200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr7:5184000-5184200	Bivalent/Poised TSS	Adipose Nuclei	Adipose
36	chr7:5184000-5184200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
37	chr7:5184000-5184200	Flanking Active TSS	Fetal Brain Female	brain
38	chr7:5184000-5184200	Bivalent/Poised TSS	Thymus	Thymus
39	chr7:5184000-5184400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr7:5184000-5184400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr7:5184000-5184400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr7:5184000-5184400	Active TSS	Brain Angular Gyrus	brain
43	chr7:5184000-5184400	Active TSS	Brain Germinal Matrix	brain
44	chr7:5184000-5184400	Enhancers	Esophagus	oesophagus
45	chr7:5184000-5184400	Enhancers	Placenta	Placenta
46	chr7:5184000-5184400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
47	chr7:5184000-5184400	Flanking Active TSS	HMEC	breast
48	chr7:5184000-5184400	Active TSS	HSMM	muscle
49	chr7:5184000-5184400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
50	chr7:5184000-5184400	Active TSS	NH-A	brain

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