Variant report

Variant	rs486346
Chromosome Location	chr1:46026861-46026862
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:46026029..46028388-chr1:46033747..46035432,2	K562	blood:
2	chr1:46014232..46017206-chr1:46025290..46030299,5	K562	blood:
3	chr1:46026399..46028107-chr1:46031443..46033091,2	K562	blood:
4	chr1:45985509..45988725-chr1:46026042..46029280,7	K562	blood:
5	chr1:45982318..45989250-chr1:46023024..46029715,13	K562	blood:
6	chr1:46016379..46019055-chr1:46025456..46027491,2	K562	blood:

Variant related genes	Relation type
ENSG00000117450	Chromatin interaction
ENSG00000117448	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11211127	1.00[AMR][1000 genomes]
rs11211144	1.00[AMR][1000 genomes]
rs11211148	1.00[AMR][1000 genomes]
rs11211153	1.00[AMR][1000 genomes]
rs11211154	1.00[AMR][1000 genomes]
rs11211155	1.00[AMR][1000 genomes]
rs11211156	1.00[AMR][1000 genomes]
rs11211167	1.00[AMR][1000 genomes]
rs12057167	1.00[AMR][1000 genomes]
rs12060056	1.00[AMR][1000 genomes]
rs12061890	1.00[AMR][1000 genomes]
rs12062361	1.00[AMR][1000 genomes]
rs12063380	1.00[AMR][1000 genomes]
rs12064908	1.00[AMR][1000 genomes]
rs12067882	1.00[AMR][1000 genomes]
rs12070146	1.00[AMR][1000 genomes]
rs12070177	1.00[AMR][1000 genomes]
rs12073045	1.00[AMR][1000 genomes]
rs12073047	1.00[AMR][1000 genomes]
rs12073132	1.00[AMR][1000 genomes]
rs12077112	1.00[AMR][1000 genomes]
rs12080482	1.00[AMR][1000 genomes]
rs12081121	1.00[AMR][1000 genomes]
rs12082672	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12085372	1.00[AMR][1000 genomes]
rs12086880	1.00[AMR][1000 genomes]
rs12088810	1.00[AMR][1000 genomes]
rs12091335	1.00[AMR][1000 genomes]
rs12091360	1.00[AMR][1000 genomes]
rs12093444	1.00[AMR][1000 genomes]
rs12094011	1.00[AMR][1000 genomes]
rs12097914	1.00[AMR][1000 genomes]
rs16832540	1.00[AMR][1000 genomes]
rs16832550	1.00[AMR][1000 genomes]
rs16832553	1.00[AMR][1000 genomes]
rs16832557	1.00[AMR][1000 genomes]
rs1691225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1691226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1691227	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1762087	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2782489	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28532613	1.00[AMR][1000 genomes]
rs28548585	1.00[AMR][1000 genomes]
rs28576912	1.00[AMR][1000 genomes]
rs28607905	1.00[AMR][1000 genomes]
rs35067820	1.00[AMR][1000 genomes]
rs35808563	1.00[AMR][1000 genomes]
rs505175	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs506094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs525706	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs622296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs635446	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs665014	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs668289	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs669417	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs680267	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7550744	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv530016	chr1:45868543-46069020	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
3	nsv829726	chr1:45897581-46103186	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
4	nsv529631	chr1:45905936-46335246	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	207 gene(s)	inside rSNPs	diseases
5	nsv932680	chr1:45935520-46686477	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
6	nsv868828	chr1:45953923-46686477	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
7	nsv871928	chr1:46024701-46609736	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46017400-46027000	Weak transcription	Aorta	Aorta
2	chr1:46017400-46027400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:46017800-46027200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:46017800-46027400	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:46017800-46027400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr1:46017800-46027400	Weak transcription	Gastric	stomach
7	chr1:46017800-46032200	Weak transcription	Brain Anterior Caudate	brain
8	chr1:46017800-46038800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:46018000-46027400	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr1:46018000-46032200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr1:46018000-46038600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:46018200-46037400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:46018400-46027200	Weak transcription	Fetal Lung	lung
14	chr1:46018400-46027400	Weak transcription	Colon Smooth Muscle	Colon
15	chr1:46018400-46027400	Weak transcription	HUVEC	blood vessel
16	chr1:46018400-46029600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr1:46018400-46029800	Weak transcription	NHDF-Ad	bronchial
18	chr1:46018400-46032000	Weak transcription	Fetal Kidney	kidney
19	chr1:46018400-46032600	Weak transcription	Fetal Brain Male	brain
20	chr1:46018400-46036400	Strong transcription	Fetal Stomach	stomach
21	chr1:46018400-46036800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:46018400-46036800	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:46018400-46036800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr1:46018400-46037000	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr1:46018600-46027000	Weak transcription	Esophagus	oesophagus
26	chr1:46018600-46032000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr1:46018600-46034200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr1:46018600-46036800	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr1:46018600-46037600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:46018600-46038200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr1:46019200-46032000	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr1:46020600-46032200	Weak transcription	Brain Angular Gyrus	brain
33	chr1:46021600-46027400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr1:46021600-46029600	Weak transcription	HSMM	muscle
35	chr1:46021800-46027000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr1:46021800-46027000	Weak transcription	Osteobl	bone
37	chr1:46021800-46027400	Weak transcription	Primary B cells from cord blood	blood
38	chr1:46022000-46027400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr1:46022000-46027600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr1:46022000-46032200	Weak transcription	NHLF	lung
41	chr1:46022800-46030400	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr1:46022800-46036800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:46023000-46030200	Strong transcription	Primary T cells from cord blood	blood
44	chr1:46023000-46036600	Strong transcription	Dnd41	blood
45	chr1:46023200-46027000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr1:46023400-46027400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:46023400-46027400	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr1:46023400-46027400	Weak transcription	Right Ventricle	heart
49	chr1:46023400-46027400	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr1:46023400-46027600	Weak transcription	Left Ventricle	heart

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