Variant report

Variant	rs351397
Chromosome Location	chr1:212466285-212466286
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212464233..212466790-chr1:212482649..212484293,2	K562	blood:
2	chr1:212464978..212469431-chr1:212471345..212474474,8	K562	blood:
3	chr1:212206484..212209401-chr1:212463346..212466333,2	K562	blood:
4	chr1:212241980..212244693-chr1:212464884..212466569,2	K562	blood:

Variant related genes	Relation type
ENSG00000143493	Chromatin interaction
ENSG00000143476	Chromatin interaction
ENSG00000225338	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12725070	0.87[ASN][1000 genomes]
rs1444692	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1774252	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2921128	0.85[ASN][1000 genomes]
rs2921129	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2995255	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2995256	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2995257	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2995258	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3099111	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3121291	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs351375	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs351383	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs351395	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs351405	0.84[EUR][1000 genomes]
rs351416	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs351420	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4554777	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4951584	0.81[EUR][1000 genomes]
rs6674587	0.89[ASN][1000 genomes]
rs701906	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs701907	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs701908	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs792433	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs792434	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs792440	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs792441	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs792442	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs792443	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs812074	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
4	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
5	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
6	esv1799093	chr1:212447167-212468974	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	esv1800932	chr1:212447167-212468974	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	esv1839997	chr1:212447167-212468974	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv873155	chr1:212449195-212502157	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	esv1839887	chr1:212457414-212478047	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212460200-212489200	Weak transcription	Spleen	Spleen
2	chr1:212461000-212469000	Enhancers	Brain Substantia Nigra	brain
3	chr1:212461000-212476200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:212461200-212466600	Enhancers	NHEK	skin
5	chr1:212461200-212467200	Enhancers	HMEC	breast
6	chr1:212461600-212468800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr1:212461800-212470200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:212462000-212471200	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr1:212462200-212466600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:212462200-212467200	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr1:212462200-212468800	Enhancers	Brain Anterior Caudate	brain
12	chr1:212462200-212471000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:212462200-212471000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr1:212462400-212466600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr1:212462400-212467200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:212462400-212469000	Enhancers	Brain Cingulate Gyrus	brain
17	chr1:212462600-212471000	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr1:212462800-212470000	Enhancers	Liver	Liver
19	chr1:212463200-212466600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:212463200-212467400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:212463400-212467200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:212463600-212467600	Enhancers	K562	blood
23	chr1:212463600-212468800	Weak transcription	Thymus	Thymus
24	chr1:212463800-212466400	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr1:212463800-212471000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr1:212463800-212471000	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr1:212464200-212466400	Enhancers	Primary B cells from peripheral blood	blood
28	chr1:212464200-212466600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:212464200-212466600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr1:212464200-212467000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr1:212464200-212467200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:212464200-212467400	Enhancers	Duodenum Mucosa	Duodenum
33	chr1:212464200-212471200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr1:212464200-212483000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr1:212464400-212466400	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr1:212464400-212467200	Flanking Active TSS	GM12878-XiMat	blood
37	chr1:212464600-212466400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:212464600-212467000	Enhancers	Primary B cells from cord blood	blood
39	chr1:212464600-212473000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr1:212464800-212467400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:212464800-212468600	Weak transcription	Gastric	stomach
42	chr1:212464800-212480200	Weak transcription	Lung	lung
43	chr1:212464800-212483800	Weak transcription	Pancreas	Pancrea
44	chr1:212464800-212506400	Weak transcription	Esophagus	oesophagus
45	chr1:212465000-212467200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr1:212465000-212467400	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr1:212465000-212468200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:212465000-212468800	Weak transcription	Colonic Mucosa	Colon
49	chr1:212465000-212469600	Enhancers	Adipose Nuclei	Adipose
50	chr1:212465000-212470400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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