Variant report

Variant	rs11211155
Chromosome Location	chr1:46126719-46126720
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:46078095..46080443-chr1:46125224..46127311,2	K562	blood:
2	chr1:46117210..46121553-chr1:46125649..46128637,4	K562	blood:
3	chr1:46126286..46130719-chr1:46131581..46134748,5	K562	blood:

Variant related genes	Relation type
ENSG00000132780	Chromatin interaction
ENSG00000159592	Chromatin interaction
ENSG00000234329	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs11211127	1.00[AMR][1000 genomes]
rs11211144	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11211148	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11211150	1.00[YRI][hapmap]
rs11211153	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11211154	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11211156	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11211167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12057167	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12060056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12062361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12063380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12064908	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12067882	1.00[AMR][1000 genomes]
rs12070146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12070177	1.00[YRI][hapmap];1.00[AFR][1000 genomes];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[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12080482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12081121	1.00[AMR][1000 genomes]
rs12082672	1.00[AMR][1000 genomes]
rs12085372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12086880	1.00[AMR][1000 genomes]
rs12088810	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12091335	1.00[AMR][1000 genomes]
rs12091360	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12093444	1.00[AMR][1000 genomes]
rs12094011	1.00[YRI][hapmap];1.00[AFR][1000 genomes];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[AMR][1000 genomes]
rs1691226	1.00[AMR][1000 genomes]
rs1691227	1.00[AMR][1000 genomes]
rs1762087	1.00[AMR][1000 genomes]
rs2782489	1.00[AMR][1000 genomes]
rs28532613	1.00[AMR][1000 genomes]
rs28548585	1.00[AMR][1000 genomes]
rs28576912	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs28607905	1.00[AMR][1000 genomes]
rs35067820	1.00[AMR][1000 genomes]
rs35808563	1.00[AMR][1000 genomes]
rs486346	1.00[AMR][1000 genomes]
rs505175	1.00[AMR][1000 genomes]
rs506094	1.00[AMR][1000 genomes]
rs525706	1.00[AMR][1000 genomes]
rs622296	1.00[AMR][1000 genomes]
rs635446	1.00[AMR][1000 genomes]
rs665014	1.00[AMR][1000 genomes]
rs668289	1.00[AMR][1000 genomes]
rs6690210	1.00[YRI][hapmap]
rs669417	1.00[AMR][1000 genomes]
rs680267	1.00[AMR][1000 genomes]
rs7550744	1.00[AMR][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	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
2	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
3	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
4	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
5	nsv1011587	chr1:46051672-46244492	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
6	nsv1014128	chr1:46097670-46394540	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 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	chr1:46053200-46127400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:46087600-46129200	Strong transcription	Fetal Thymus	thymus
3	chr1:46088600-46127400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:46089800-46127000	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:46091200-46127000	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr1:46091200-46127000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:46091200-46127200	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:46091200-46128200	Strong transcription	Dnd41	blood
9	chr1:46091400-46127000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:46091400-46127000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:46091400-46127000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:46093200-46127000	Strong transcription	K562	blood
13	chr1:46097200-46126800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:46098400-46133400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:46100200-46135600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:46106200-46140000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr1:46111400-46126800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:46112600-46126800	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr1:46112600-46127000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:46112800-46126800	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr1:46113000-46126800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:46113000-46127000	Strong transcription	Primary B cells from peripheral blood	blood
23	chr1:46113200-46127000	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr1:46113200-46128000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr1:46113800-46126800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr1:46113800-46127000	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr1:46113800-46127000	Strong transcription	Primary hematopoietic stem cells	blood
28	chr1:46113800-46127000	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr1:46113800-46127000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:46113800-46127000	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr1:46113800-46133400	Weak transcription	Right Atrium	heart
32	chr1:46114000-46127400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:46114000-46129200	Strong transcription	Primary B cells from cord blood	blood
34	chr1:46114200-46127000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:46114600-46127600	Strong transcription	Hela-S3	cervix
36	chr1:46115600-46127000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr1:46115800-46127000	Strong transcription	HUVEC	blood vessel
38	chr1:46116600-46127000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:46119600-46127000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
40	chr1:46120400-46126800	Strong transcription	HMEC	breast
41	chr1:46120600-46127000	Strong transcription	HSMM	muscle
42	chr1:46120600-46128000	Weak transcription	Fetal Heart	heart
43	chr1:46121000-46126800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:46121000-46135400	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr1:46121200-46126800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:46121200-46127000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:46121200-46127000	Strong transcription	Osteobl	bone
48	chr1:46121800-46127000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:46121800-46127000	Strong transcription	NHLF	lung
50	chr1:46122400-46127000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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