Variant report

Variant	rs17018784
Chromosome Location	chr1:212399588-212399589
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM206-5	chr1:212399570-212399604	XLOC_001191

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11800208	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11803526	1.00[EUR][1000 genomes]
rs17018697	1.00[EUR][1000 genomes]
rs17018717	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17018767	1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17018792	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1873299	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1908141	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4369290	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55764484	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56410034	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57461449	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58031667	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58388470	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59665922	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59988047	1.00[EUR][1000 genomes]
rs61331273	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6676652	1.00[EUR][1000 genomes]
rs6687793	1.00[EUR][1000 genomes]
rs6701982	1.00[EUR][1000 genomes]
rs73078491	1.00[EUR][1000 genomes]
rs73078499	1.00[EUR][1000 genomes]
rs73078504	0.90[AMR][1000 genomes]
rs73078520	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73078526	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73078531	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73078536	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74138110	0.90[AMR][1000 genomes]
rs7515005	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7518332	0.85[AFR][1000 genomes]
rs7530958	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7533954	1.00[EUR][1000 genomes]
rs7534621	1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7536393	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7536704	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7537172	1.00[EUR][1000 genomes]
rs7538315	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs884208	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212392600-212404800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr1:212397400-212400000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:212397400-212400200	Enhancers	Adipose Nuclei	Adipose
4	chr1:212397600-212400000	Enhancers	Primary T cells fromperipheralblood	blood
5	chr1:212397800-212400000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:212397800-212400200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:212397800-212400200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr1:212398000-212402000	Enhancers	HepG2	liver
9	chr1:212398200-212400000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:212398200-212400000	Enhancers	Fetal Thymus	thymus
11	chr1:212398400-212399800	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr1:212398400-212400000	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr1:212398400-212400000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr1:212398400-212400000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:212398400-212400200	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr1:212398600-212399600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:212398600-212399600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:212398600-212399800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:212398600-212399800	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr1:212398600-212399800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr1:212398600-212399800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:212398600-212399800	Enhancers	Brain Anterior Caudate	brain
23	chr1:212398600-212399800	Enhancers	Brain Cingulate Gyrus	brain
24	chr1:212398600-212399800	Enhancers	Brain Substantia Nigra	brain
25	chr1:212398600-212399800	Enhancers	Fetal Kidney	kidney
26	chr1:212398600-212399800	Enhancers	Right Ventricle	heart
27	chr1:212398600-212400000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:212398600-212400000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr1:212398600-212402000	Enhancers	Liver	Liver
30	chr1:212398800-212399600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr1:212398800-212399600	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr1:212398800-212399800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr1:212398800-212399800	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr1:212398800-212402600	Enhancers	Stomach Mucosa	stomach
35	chr1:212399000-212399600	Enhancers	H1 Cell Line	embryonic stem cell
36	chr1:212399000-212399600	Enhancers	H9 Cell Line	embryonic stem cell
37	chr1:212399000-212399800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:212399000-212400000	Enhancers	Primary B cells from peripheral blood	blood
39	chr1:212399000-212400000	Enhancers	Primary T cells from cord blood	blood
40	chr1:212399000-212400000	Enhancers	Spleen	Spleen
41	chr1:212399000-212400000	Enhancers	GM12878-XiMat	blood
42	chr1:212399000-212400200	Enhancers	Pancreas	Pancrea
43	chr1:212399000-212401000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:212399000-212403200	Enhancers	Fetal Heart	heart
45	chr1:212399200-212399600	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr1:212399200-212399600	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr1:212399200-212399600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:212399200-212399600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:212399200-212399600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:212399200-212399600	Enhancers	Primary hematopoietic stem cells	blood

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