Variant report

Variant	rs6671347
Chromosome Location	chr1:45980939-45980940
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45975860..45989626-chr1:46030076..46041078,36	K562	blood:
2	chr1:45976870..45989534-chr1:46007918..46019226,54	K562	blood:
3	chr1:45974188..45977589-chr1:45979134..45984422,9	MCF-7	breast:
4	chr1:45980210..45995142-chr1:46046095..46057139,89	K562	blood:
5	chr1:45974558..45995867-chr1:46046173..46057010,94	K562	blood:
6	chr1:45978557..45980189-chr1:45980420..45982828,2	MCF-7	breast:
7	chr1:45978447..45985278-chr1:46015169..46019739,8	MCF-7	breast:
8	chr1:45980815..45983506-chr1:46002846..46004732,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000132780	Chromatin interaction
ENSG00000117448	Chromatin interaction
ENSG00000132763	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11211125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11211127	1.00[EUR][1000 genomes]
rs12065695	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12066809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12067882	1.00[EUR][1000 genomes]
rs12070890	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12073047	1.00[EUR][1000 genomes]
rs12083690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12091335	1.00[EUR][1000 genomes]
rs12093444	1.00[EUR][1000 genomes]
rs12565230	1.00[EUR][1000 genomes]
rs16832540	1.00[EUR][1000 genomes]
rs16832545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16832550	1.00[EUR][1000 genomes]
rs16832557	1.00[EUR][1000 genomes]
rs16832559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1855621	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28532613	1.00[EUR][1000 genomes]
rs28674795	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2934860	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2934861	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2934863	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2934864	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2991965	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2991967	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2991969	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2991984	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2993256	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2993260	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2993261	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3014222	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3014223	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3014224	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3014226	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35067820	1.00[EUR][1000 genomes]
rs35103566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36053912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57910611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59050426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60347972	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60660559	1.00[EUR][1000 genomes]
rs6664588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6677135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6699702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72478602	1.00[ASN][1000 genomes]
rs72896187	1.00[EUR][1000 genomes]
rs72898313	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898323	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72900311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7412911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7536559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7550744	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9429080	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9429083	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9429164	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9429165	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	esv1795802	chr1:45819489-46009818	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	esv1831217	chr1:45819489-46009818	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45966600-45984600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:45966800-45984800	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr1:45971600-45985000	Strong transcription	Fetal Stomach	stomach
4	chr1:45971800-45982000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:45972800-45982200	Strong transcription	K562	blood
6	chr1:45972800-45982400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:45972800-45984400	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr1:45972800-45984400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr1:45972800-45984400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr1:45972800-45984600	Strong transcription	Fetal Thymus	thymus
11	chr1:45973000-45981800	Strong transcription	Dnd41	blood
12	chr1:45973000-45983000	Strong transcription	Fetal Brain Female	brain
13	chr1:45973000-45983200	Strong transcription	H9 Cell Line	embryonic stem cell
14	chr1:45973000-45983200	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:45973000-45983400	Strong transcription	Primary B cells from peripheral blood	blood
16	chr1:45973000-45983800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr1:45973000-45983800	Strong transcription	Spleen	Spleen
18	chr1:45973000-45984000	Strong transcription	Primary T cells from cord blood	blood
19	chr1:45973000-45984000	Strong transcription	Fetal Muscle Trunk	muscle
20	chr1:45973000-45984000	Strong transcription	Fetal Muscle Leg	muscle
21	chr1:45973000-45984400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr1:45973000-45984400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:45973000-45984600	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr1:45973200-45982000	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr1:45973200-45982200	Strong transcription	NHEK	skin
26	chr1:45973200-45982400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:45973200-45983200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:45973200-45983600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:45973200-45983800	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr1:45973200-45984200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr1:45973200-45984600	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr1:45973200-45984600	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr1:45973200-45984600	Strong transcription	Adipose Nuclei	Adipose
34	chr1:45973400-45982200	Strong transcription	GM12878-XiMat	blood
35	chr1:45973400-45982800	Strong transcription	Right Ventricle	heart
36	chr1:45973400-45983000	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr1:45973400-45983200	Strong transcription	Primary B cells from cord blood	blood
38	chr1:45973400-45983200	Strong transcription	HMEC	breast
39	chr1:45973400-45983800	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr1:45973400-45984200	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr1:45973400-45984400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:45973400-45984600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr1:45973600-45982800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr1:45973600-45984200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:45973800-45982400	Strong transcription	Ovary	ovary
46	chr1:45973800-45983200	Strong transcription	Brain Germinal Matrix	brain
47	chr1:45973800-45984800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr1:45974000-45981400	Strong transcription	Colonic Mucosa	Colon
49	chr1:45974000-45982000	Strong transcription	Gastric	stomach
50	chr1:45974000-45983800	Strong transcription	HUVEC	blood vessel

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