Variant report

Variant	rs3800187
Chromosome Location	chr6:2222253-2222254
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11242758	0.81[ASN][1000 genomes]
rs11961324	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11963138	0.97[ASN][1000 genomes]
rs11963529	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12191002	0.81[ASN][1000 genomes]
rs12661136	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13196306	0.95[ASN][1000 genomes]
rs13217030	0.97[ASN][1000 genomes]
rs2295008	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2450299	0.92[ASN][1000 genomes]
rs2450304	0.97[ASN][1000 genomes]
rs2450307	0.92[ASN][1000 genomes]
rs2450310	0.83[ASN][1000 genomes]
rs2479001	0.92[ASN][1000 genomes]
rs2479002	0.92[ASN][1000 genomes]
rs2479004	0.92[ASN][1000 genomes]
rs2479008	0.84[ASN][1000 genomes]
rs2479011	0.81[ASN][1000 genomes]
rs2479014	0.81[ASN][1000 genomes]
rs2505657	0.86[ASN][1000 genomes]
rs2505658	0.86[ASN][1000 genomes]
rs2505659	0.92[ASN][1000 genomes]
rs2505660	0.92[ASN][1000 genomes]
rs2505661	0.92[ASN][1000 genomes]
rs2505662	0.90[ASN][1000 genomes]
rs2505663	0.92[ASN][1000 genomes]
rs2505666	0.92[ASN][1000 genomes]
rs2505667	0.94[ASN][1000 genomes]
rs2505671	0.81[ASN][1000 genomes]
rs2505673	0.81[ASN][1000 genomes]
rs2505677	0.86[ASN][1000 genomes]
rs2505678	0.86[ASN][1000 genomes]
rs36016883	0.80[ASN][1000 genomes]
rs3778568	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3800184	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3800185	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3800190	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3823287	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55992523	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56196406	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6596879	0.81[ASN][1000 genomes]
rs72830182	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72830184	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7754950	0.97[ASN][1000 genomes]
rs9328087	0.97[ASN][1000 genomes]
rs9378327	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9378686	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9378687	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9378688	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9378692	0.94[ASN][1000 genomes]
rs9378693	0.94[ASN][1000 genomes]
rs9391946	0.97[ASN][1000 genomes]
rs9392373	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9392374	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9392375	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9392377	0.97[ASN][1000 genomes]
rs9405550	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[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	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	nsv931941	chr6:1768439-2246781	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS 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	25 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv830573	chr6:2120985-2263646	Bivalent Enhancer Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
11	nsv1022623	chr6:2199666-2267750	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
12	nsv538100	chr6:2199666-2267750	ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
13	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
14	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
15	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
16	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

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2214000-2222400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr6:2217400-2222400	Weak transcription	Lung	lung
3	chr6:2217400-2231400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:2217400-2231400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:2217600-2222400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:2219400-2224600	Genic enhancers	HepG2	liver
7	chr6:2221400-2222800	Weak transcription	Gastric	stomach
8	chr6:2221800-2222400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:2221800-2222600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:2221800-2222600	Active TSS	Monocytes-CD14+_RO01746	blood
11	chr6:2221800-2223000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr6:2221800-2223000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr6:2221800-2223200	Flanking Active TSS	Hela-S3	cervix
14	chr6:2222000-2222400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:2222000-2222400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:2222000-2222400	Active TSS	Primary monocytes fromperipheralblood	blood
17	chr6:2222000-2222400	Active TSS	Primary B cells from peripheral blood	blood
18	chr6:2222000-2222400	Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr6:2222000-2222400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
20	chr6:2222000-2222400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:2222000-2222400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr6:2222000-2222400	Active TSS	Colonic Mucosa	Colon
23	chr6:2222000-2222400	Active TSS	Duodenum Mucosa	Duodenum
24	chr6:2222000-2222400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr6:2222000-2222400	Active TSS	Fetal Intestine Small	intestine
26	chr6:2222000-2222400	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr6:2222000-2222400	Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr6:2222000-2222400	Active TSS	Small Intestine	intestine
29	chr6:2222000-2222400	Active TSS	Thymus	Thymus
30	chr6:2222000-2222400	Active TSS	A549	lung
31	chr6:2222000-2222400	Active TSS	GM12878-XiMat	blood
32	chr6:2222000-2222400	Active TSS	HMEC	breast
33	chr6:2222000-2222400	Active TSS	NHLF	lung
34	chr6:2222000-2222400	Active TSS	Osteobl	bone
35	chr6:2222000-2222600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr6:2222000-2222600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr6:2222000-2222600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr6:2222000-2222600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr6:2222000-2222600	Active TSS	Liver	Liver
40	chr6:2222000-2222600	Active TSS	Brain Cingulate Gyrus	brain
41	chr6:2222000-2222600	Active TSS	Brain Hippocampus Middle	brain
42	chr6:2222000-2222600	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr6:2222000-2222600	Active TSS	Fetal Intestine Large	intestine
44	chr6:2222000-2222600	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr6:2222000-2222600	Active TSS	Fetal Muscle Leg	muscle
46	chr6:2222000-2222600	Active TSS	Placenta	Placenta
47	chr6:2222000-2222600	Active TSS	Left Ventricle	heart
48	chr6:2222000-2222600	Active TSS	Ovary	ovary
49	chr6:2222000-2222600	Active TSS	Psoas Muscle	Psoas
50	chr6:2222000-2222600	Active TSS	Rectal Mucosa Donor 29	rectum

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