Variant report

Variant	rs4971045
Chromosome Location	chr1:151418745-151418746
allele	A/C
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151418710..151423161-chr1:151426419..151432381,10	MCF-7	breast:
2	chr1:151410072..151413256-chr1:151417263..151420004,3	K562	blood:
3	chr1:151414651..151422317-chr1:151482271..151486624,12	MCF-7	breast:
4	1:151411623-151426875..1:151592347-151603110	GM12878	blood:
5	1:151171193-151178589..1:151411623-151426875	GM12878	blood:
6	chr1:151414283..151420812-chr1:151481565..151487481,13	MCF-7	breast:
7	chr1:151417086..151418869-chr1:151427238..151429980,2	K562	blood:
8	chr1:151411841..151424302-chr1:151427210..151433048,24	MCF-7	breast:
9	chr1:151412036..151414559-chr1:151416954..151420193,3	MCF-7	breast:
10	chr1:151418228..151420627-chr1:151423254..151425635,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000206635	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000143398	Chromatin interaction
ENSG00000238711	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11204806	0.82[EUR][1000 genomes]
rs12566457	0.82[EUR][1000 genomes]
rs12566673	0.82[EUR][1000 genomes]
rs1571294	0.82[EUR][1000 genomes]
rs16833248	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16833263	0.83[AMR][1000 genomes]
rs2296840	0.82[EUR][1000 genomes]
rs4147451	0.85[AMR][1000 genomes]
rs4354539	0.83[AMR][1000 genomes]
rs56317453	0.82[EUR][1000 genomes]
rs58057716	0.82[EUR][1000 genomes]
rs59153459	0.82[EUR][1000 genomes]
rs59848815	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6587574	0.82[EUR][1000 genomes]
rs6669679	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6704126	0.82[EUR][1000 genomes]
rs72633634	0.82[EUR][1000 genomes]
rs72633635	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72633636	0.85[AMR][1000 genomes]
rs72633637	0.85[AMR][1000 genomes]
rs7548614	0.82[EUR][1000 genomes]
rs9729256	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
2	nsv831581	chr1:151289151-151478605	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	esv1811070	chr1:151403570-151433317	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151398400-151429600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:151401000-151430000	Weak transcription	Esophagus	oesophagus
3	chr1:151401600-151429200	Weak transcription	Spleen	Spleen
4	chr1:151405800-151428400	Weak transcription	Right Atrium	heart
5	chr1:151410200-151429800	Weak transcription	Lung	lung
6	chr1:151411400-151419600	Weak transcription	Fetal Stomach	stomach
7	chr1:151411400-151427200	Weak transcription	Right Ventricle	heart
8	chr1:151411400-151430000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:151412600-151429200	Weak transcription	Brain Germinal Matrix	brain
10	chr1:151413600-151429800	Weak transcription	Pancreas	Pancrea
11	chr1:151413600-151430000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:151413800-151422600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:151413800-151428000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr1:151413800-151429400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr1:151413800-151429800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:151414000-151421200	Weak transcription	Thymus	Thymus
17	chr1:151414000-151429600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:151414200-151425400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:151414200-151430400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:151414400-151421200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr1:151414400-151429000	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr1:151414400-151429400	Weak transcription	Fetal Kidney	kidney
23	chr1:151414400-151429400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr1:151414600-151421800	Weak transcription	Fetal Intestine Large	intestine
25	chr1:151414600-151428200	Weak transcription	Fetal Brain Female	brain
26	chr1:151414600-151429000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr1:151414600-151429000	Weak transcription	Small Intestine	intestine
28	chr1:151414600-151429200	Weak transcription	Fetal Brain Male	brain
29	chr1:151414600-151430400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr1:151414800-151420200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:151414800-151422600	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr1:151414800-151427600	Weak transcription	K562	blood
33	chr1:151414800-151429600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr1:151415000-151419800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:151415000-151421000	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr1:151415000-151423800	Weak transcription	Fetal Muscle Leg	muscle
37	chr1:151415000-151429400	Weak transcription	Placenta	Placenta
38	chr1:151415200-151420000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:151415200-151420000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr1:151415200-151425600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:151415200-151429000	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr1:151415800-151418800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr1:151415800-151419800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:151415800-151420000	Weak transcription	Fetal Thymus	thymus
45	chr1:151416000-151419000	Enhancers	Liver	Liver
46	chr1:151416200-151418800	Enhancers	Rectal Smooth Muscle	rectum
47	chr1:151416200-151418800	Enhancers	A549	lung
48	chr1:151416200-151419000	Enhancers	Brain Angular Gyrus	brain
49	chr1:151416200-151419600	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr1:151416400-151420000	Enhancers	Primary T helper cells PMA-I stimulated	--

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