Variant report

Variant	rs1086894
Chromosome Location	chr1:212567649-212567650
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1086892	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1086895	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs640526	0.91[EUR][1000 genomes]
rs792450	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs792451	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
6	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212526800-212582800	Weak transcription	Fetal Brain Male	brain
2	chr1:212528400-212583000	Weak transcription	Fetal Kidney	kidney
3	chr1:212534000-212570200	Weak transcription	HSMM	muscle
4	chr1:212534400-212570600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:212538000-212571000	Weak transcription	NH-A	brain
6	chr1:212540400-212575400	Weak transcription	HUVEC	blood vessel
7	chr1:212553200-212569400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:212553200-212578400	Weak transcription	K562	blood
9	chr1:212556800-212587600	Weak transcription	Small Intestine	intestine
10	chr1:212558600-212578800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:212558600-212580000	Weak transcription	Left Ventricle	heart
12	chr1:212560200-212578400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr1:212560400-212570600	Weak transcription	NHLF	lung
14	chr1:212560400-212580200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr1:212560600-212568000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:212560600-212570000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:212560600-212570200	Weak transcription	Brain Substantia Nigra	brain
18	chr1:212560600-212578200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:212560600-212578800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:212560600-212580200	Weak transcription	HSMMtube	muscle
21	chr1:212560600-212582000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr1:212560600-212582000	Weak transcription	Gastric	stomach
23	chr1:212561000-212575400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:212561000-212578000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr1:212561000-212579800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr1:212561000-212579800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr1:212561000-212580000	Weak transcription	Brain Hippocampus Middle	brain
28	chr1:212561000-212582400	Weak transcription	Aorta	Aorta
29	chr1:212561200-212572000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:212562000-212570200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:212562000-212578400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:212562400-212570600	Weak transcription	NHEK	skin
33	chr1:212562600-212571200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:212563600-212570000	Weak transcription	GM12878-XiMat	blood
35	chr1:212563800-212570000	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr1:212563800-212570600	Weak transcription	Primary T cells from cord blood	blood
37	chr1:212564000-212570000	Weak transcription	Dnd41	blood
38	chr1:212564200-212578800	Weak transcription	Esophagus	oesophagus
39	chr1:212564400-212570800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr1:212564400-212575400	Weak transcription	Thymus	Thymus
41	chr1:212564600-212569800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:212564600-212569800	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr1:212564600-212570200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:212564600-212570600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:212564600-212570600	Weak transcription	Fetal Thymus	thymus
46	chr1:212564600-212576200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:212564600-212577800	Weak transcription	Spleen	Spleen
48	chr1:212564600-212578600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr1:212564600-212579800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr1:212564800-212569000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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