Variant report

Variant	rs72830193
Chromosome Location	chr6:2270081-2270082
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WRNIP1-2	chr6:2269932-2270247	ENSG00000250903
2	lnc-WRNIP1-2	chr6:2269932-2270248	XLOC_005126
3	lnc-GMDS-5	chr6:2269932-2270247	NONHSAT106634

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10046434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12175387	0.88[ASN][1000 genomes]
rs12193414	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12193650	0.87[EUR][1000 genomes]
rs13207508	0.93[ASN][1000 genomes]
rs2104592	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35888609	0.82[ASN][1000 genomes]
rs3778566	0.84[ASN][1000 genomes]
rs3800191	0.93[ASN][1000 genomes]
rs4147082	0.96[ASN][1000 genomes]
rs57974028	0.82[ASN][1000 genomes]
rs59711442	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61245983	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61372774	0.98[ASN][1000 genomes]
rs61693896	0.82[ASN][1000 genomes]
rs6899468	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6903122	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6903476	0.84[ASN][1000 genomes]
rs6916208	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6936023	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7755421	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7767356	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9501818	0.84[ASN][1000 genomes]
rs9501819	0.93[ASN][1000 genomes]
rs9501822	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9503125	0.84[ASN][1000 genomes]
rs9503127	0.84[ASN][1000 genomes]
rs9503136	0.81[AMR][1000 genomes];0.93[EUR][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	nsv530548	chr6:1441421-2351608	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv531295	chr6:1773436-2724986	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
3	nsv1025814	chr6:2064629-2308518	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
4	nsv538098	chr6:2064629-2308518	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
5	nsv1030181	chr6:2071210-2308657	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS 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	46 gene(s)	inside rSNPs	diseases
6	nsv538099	chr6:2071210-2308657	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
7	nsv883388	chr6:2093432-2514911	Strong transcription Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
8	nsv883389	chr6:2093432-2776303	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
9	nsv1022166	chr6:2199666-2320800	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
10	nsv1017174	chr6:2213893-2340529	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	nsv1033201	chr6:2218647-2308518	ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
12	nsv538101	chr6:2218647-2308518	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
13	esv2763526	chr6:2230064-2311916	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
14	nsv1021573	chr6:2246721-2832408	Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	80 gene(s)	inside rSNPs	diseases
15	nsv538102	chr6:2246721-2832408	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	80 gene(s)	inside rSNPs	diseases
16	nsv883390	chr6:2265344-2584919	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2247000-2273800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:2247000-2275000	Weak transcription	Fetal Kidney	kidney
3	chr6:2247000-2275400	Weak transcription	NHLF	lung
4	chr6:2247000-2275600	Weak transcription	Fetal Heart	heart
5	chr6:2247200-2272600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr6:2247600-2274400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr6:2247800-2284200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr6:2248200-2275000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr6:2248400-2274400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr6:2250400-2274800	Weak transcription	Brain Angular Gyrus	brain
11	chr6:2251000-2273600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr6:2255200-2272400	Weak transcription	Brain Hippocampus Middle	brain
13	chr6:2255400-2272800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:2255800-2288600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr6:2256000-2272400	Weak transcription	Placenta	Placenta
16	chr6:2256200-2272400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:2256200-2272600	Weak transcription	Brain Substantia Nigra	brain
18	chr6:2256200-2272800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:2258800-2271000	Weak transcription	Colonic Mucosa	Colon
20	chr6:2259800-2276400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr6:2261600-2272000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:2261800-2272800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr6:2262200-2282600	Weak transcription	Small Intestine	intestine
24	chr6:2264000-2279000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr6:2264200-2272800	Strong transcription	Primary B cells from cord blood	blood
26	chr6:2264400-2272600	Weak transcription	Brain Anterior Caudate	brain
27	chr6:2264400-2275000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr6:2264400-2285800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr6:2264600-2272000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:2264600-2272400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr6:2264600-2272600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr6:2264600-2273200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:2264600-2286400	Weak transcription	HSMM	muscle
34	chr6:2264800-2271400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr6:2264800-2272600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:2264800-2272600	Weak transcription	Pancreas	Pancrea
37	chr6:2264800-2272800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr6:2265000-2272600	Weak transcription	Fetal Muscle Trunk	muscle
39	chr6:2265000-2272600	Weak transcription	Thymus	Thymus
40	chr6:2265200-2271000	Weak transcription	Adipose Nuclei	Adipose
41	chr6:2265200-2272600	Weak transcription	Left Ventricle	heart
42	chr6:2265400-2272600	Weak transcription	Aorta	Aorta
43	chr6:2265600-2278200	Weak transcription	Psoas Muscle	Psoas
44	chr6:2265800-2271000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr6:2265800-2272200	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr6:2265800-2276000	Weak transcription	HSMMtube	muscle
47	chr6:2266000-2272800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr6:2266200-2272400	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr6:2266200-2272600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:2266200-2272800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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