Variant report

Variant	rs12407784
Chromosome Location	chr1:92227977-92227978
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:92226383..92229371-chr1:92235062..92236732,2	K562	blood:
2	chr1:92222836..92226137-chr1:92226478..92228913,3	K562	blood:
3	chr1:92226019..92229425-chr1:92229716..92232598,3	K562	blood:
4	chr1:92221438..92225438-chr1:92226162..92228913,3	K562	blood:

Variant related genes	Relation type
ENSG00000069702	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12406300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12565552	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17131552	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17131554	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17131555	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34038846	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60189847	0.85[ASN][1000 genomes]
rs6684961	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv1010179	chr1:92140209-92655952	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv535030	chr1:92140209-92655952	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1005917	chr1:92189945-92378683	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv949449	chr1:92211020-92585831	Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	esv1826229	chr1:92215725-92233227	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv524845	chr1:92215725-92598705	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv462517	chr1:92215725-92598705	Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv546810	chr1:92215725-92598705	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv1006318	chr1:92216408-92608324	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv432498	chr1:92218245-92618323	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv1004570	chr1:92220544-92622129	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
16	nsv1007661	chr1:92220544-92655952	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
17	esv988308	chr1:92227910-92236935	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92197600-92230000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:92204800-92247000	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr1:92208400-92235800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr1:92211800-92235600	Weak transcription	Fetal Kidney	kidney
5	chr1:92213800-92235000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:92215200-92232400	Weak transcription	A549	lung
7	chr1:92216800-92241800	Weak transcription	Aorta	Aorta
8	chr1:92217200-92230200	Weak transcription	Pancreas	Pancrea
9	chr1:92217400-92232400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:92217600-92230200	Weak transcription	Hela-S3	cervix
11	chr1:92217800-92247800	Weak transcription	Small Intestine	intestine
12	chr1:92219400-92238200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr1:92220200-92229000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr1:92220200-92229200	Weak transcription	Osteobl	bone
15	chr1:92220400-92230000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:92220400-92234000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr1:92220600-92255800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:92221000-92248000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr1:92222200-92231000	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr1:92223200-92228000	Enhancers	Colon Smooth Muscle	Colon
21	chr1:92223400-92229400	Enhancers	Adipose Nuclei	Adipose
22	chr1:92223800-92228400	Enhancers	Right Atrium	heart
23	chr1:92223800-92232000	Enhancers	K562	blood
24	chr1:92224000-92228600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:92224000-92230000	Weak transcription	Lung	lung
26	chr1:92224200-92229400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:92224200-92230000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:92224200-92230000	Weak transcription	Spleen	Spleen
29	chr1:92224400-92230000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr1:92224400-92242800	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr1:92224600-92229200	Weak transcription	NHLF	lung
32	chr1:92224800-92229000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:92224800-92234400	Weak transcription	Right Ventricle	heart
34	chr1:92225200-92230000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr1:92225200-92232000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr1:92225200-92235000	Weak transcription	Brain Hippocampus Middle	brain
37	chr1:92225400-92234400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:92225400-92241600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr1:92225600-92228200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr1:92225600-92230000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:92226000-92230600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:92226200-92228000	Enhancers	Fetal Lung	lung
43	chr1:92226200-92229200	Enhancers	HepG2	liver
44	chr1:92226400-92231200	Enhancers	Fetal Heart	heart
45	chr1:92226600-92236400	Weak transcription	Brain Substantia Nigra	brain
46	chr1:92226800-92228200	Enhancers	Fetal Muscle Leg	muscle
47	chr1:92226800-92230000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr1:92226800-92232000	Enhancers	Placenta	Placenta
49	chr1:92227000-92257200	Weak transcription	Fetal Intestine Small	intestine
50	chr1:92227200-92229000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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