Variant report

Variant	rs12066175
Chromosome Location	chr1:46955285-46955286
allele	A/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:46954689..46956415-chr1:46980499..46982105,2	K562	blood:
2	chr1:46949358..46952077-chr1:46954011..46956367,2	K562	blood:
3	chr1:46950640..46959255-chr1:46986389..46991936,15	K562	blood:
4	chr1:46945298..46948604-chr1:46953497..46956097,3	K562	blood:
5	chr1:46946915..46950728-chr1:46952343..46956054,5	K562	blood:
6	chr1:46914677..46916878-chr1:46953939..46956178,2	K562	blood:
7	chr1:46953320..46956075-chr1:46979198..46981642,2	MCF-7	breast:
8	chr1:46954039..46957769-chr1:46958689..46962771,8	K562	blood:
9	chr1:46954395..46956906-chr1:46986850..46988638,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000224863	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11211291	0.87[AFR][1000 genomes]
rs11211292	0.93[AFR][1000 genomes]
rs11211294	0.93[AFR][1000 genomes]
rs11211296	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11211297	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11801669	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11801991	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11803907	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11803942	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11806495	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12067517	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12067566	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12073541	0.93[AFR][1000 genomes]
rs12089822	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12562748	0.93[AFR][1000 genomes]
rs4504836	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7551162	0.93[AFR][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	esv2761743	chr1:46339858-47026743	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1000562	chr1:46832451-47027044	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1015045	chr1:46910546-47067492	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv534952	chr1:46910546-47067492	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv1009193	chr1:46939999-47085667	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46951200-46957200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr1:46953200-46955600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr1:46953600-46955400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
4	chr1:46953800-46956600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
5	chr1:46954000-46955600	Bivalent Enhancer	Fetal Muscle Leg	muscle
6	chr1:46954200-46956200	Bivalent Enhancer	Fetal Intestine Small	intestine
7	chr1:46954600-46955400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:46954600-46955600	Bivalent Enhancer	Fetal Intestine Large	intestine
9	chr1:46954600-46955600	Bivalent Enhancer	Spleen	Spleen
10	chr1:46954600-46956000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:46954600-46956200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr1:46954600-46957000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
13	chr1:46954800-46955400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:46954800-46955400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
15	chr1:46954800-46955400	Enhancers	Pancreas	Pancrea
16	chr1:46954800-46955400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
17	chr1:46954800-46955600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
18	chr1:46954800-46955600	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr1:46954800-46955600	Enhancers	Liver	Liver
20	chr1:46954800-46955600	Bivalent Enhancer	Brain Substantia Nigra	brain
21	chr1:46954800-46955600	Bivalent Enhancer	Fetal Brain Female	brain
22	chr1:46954800-46955600	Bivalent Enhancer	Placenta	Placenta
23	chr1:46954800-46955600	Bivalent Enhancer	Fetal Stomach	stomach
24	chr1:46954800-46955600	Bivalent Enhancer	Stomach Mucosa	stomach
25	chr1:46954800-46955800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
26	chr1:46954800-46955800	Bivalent/Poised TSS	Thymus	Thymus
27	chr1:46954800-46956000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:46954800-46956000	Enhancers	Gastric	stomach
29	chr1:46954800-46956000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
30	chr1:46954800-46956200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:46954800-46956400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
32	chr1:46954800-46957000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
33	chr1:46955000-46955400	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:46955000-46955400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
35	chr1:46955000-46955400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
36	chr1:46955000-46955400	Bivalent Enhancer	Colon Smooth Muscle	Colon
37	chr1:46955000-46955400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
38	chr1:46955000-46955400	Bivalent Enhancer	NH-A	brain
39	chr1:46955000-46955600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:46955000-46955600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
41	chr1:46955000-46955600	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:46955000-46955600	Bivalent Enhancer	Brain Anterior Caudate	brain
43	chr1:46955000-46955600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
44	chr1:46955000-46955600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
45	chr1:46955000-46955600	Active TSS	Hela-S3	cervix
46	chr1:46955000-46955600	Bivalent/Poised TSS	HepG2	liver
47	chr1:46955000-46955600	Bivalent/Poised TSS	NHEK	skin
48	chr1:46955000-46955800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:46955000-46955800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
50	chr1:46955000-46955800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum

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