Variant report

Variant	rs4278584
Chromosome Location	chr12:121452249-121452250
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121445828..121450860-chr12:121451549..121454387,9	K562	blood:
2	chr12:121445828..121451054-chr12:121451445..121454709,11	K562	blood:
3	chr12:121442812..121445650-chr12:121451524..121454471,3	K562	blood:
4	chr12:121446939..121449086-chr12:121451348..121453290,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157895	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10849829	0.82[ASN][1000 genomes]
rs1169279	0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1169281	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1169299	0.93[ASN][1000 genomes]
rs1169302	0.85[ASN][1000 genomes]
rs1169303	0.93[ASN][1000 genomes]
rs1169306	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1169309	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1169310	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1169311	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1169312	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1169313	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2254971	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2257962	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2258043	0.96[ASN][1000 genomes]
rs2258287	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2259690	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2259693	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2259777	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2259816	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2259852	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2259883	0.88[ASN][1000 genomes]
rs2260399	0.82[ASN][1000 genomes]
rs2260445	0.83[ASN][1000 genomes]
rs2260446	0.83[ASN][1000 genomes]
rs2264778	0.94[ASN][1000 genomes]
rs2264782	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2464195	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2701189	0.80[ASN][1000 genomes]
rs735396	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv899560	chr12:121371233-121560581	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS 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	23 gene(s)	inside rSNPs	diseases
5	nsv899561	chr12:121376416-121525591	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv899562	chr12:121376416-121565870	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv1037195	chr12:121408540-121470375	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	esv2758318	chr12:121415845-121584813	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
9	esv2759917	chr12:121415845-121584813	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv1039216	chr12:121421701-121538491	Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
11	nsv832531	chr12:121440495-121604232	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121436600-121452800	Weak transcription	Fetal Heart	heart
2	chr12:121437600-121453000	Weak transcription	Fetal Brain Male	brain
3	chr12:121437600-121453600	Weak transcription	Right Atrium	heart
4	chr12:121439600-121453600	Weak transcription	Stomach Mucosa	stomach
5	chr12:121442400-121453000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:121442800-121452600	Weak transcription	HMEC	breast
7	chr12:121442800-121453600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr12:121445400-121453000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr12:121448800-121453000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:121448800-121453000	Weak transcription	Fetal Kidney	kidney
11	chr12:121448800-121453000	Weak transcription	NHDF-Ad	bronchial
12	chr12:121448800-121453400	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr12:121448800-121453600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr12:121449000-121452600	Weak transcription	Hela-S3	cervix
15	chr12:121449000-121452800	Weak transcription	Brain Substantia Nigra	brain
16	chr12:121449000-121452800	Weak transcription	Psoas Muscle	Psoas
17	chr12:121449000-121452800	Weak transcription	GM12878-XiMat	blood
18	chr12:121449000-121452800	Weak transcription	HSMM	muscle
19	chr12:121449000-121453000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr12:121449000-121453000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:121449000-121453400	Weak transcription	HSMMtube	muscle
22	chr12:121449200-121452800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr12:121449200-121453000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr12:121449600-121453000	Weak transcription	Small Intestine	intestine
25	chr12:121450000-121452800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr12:121450000-121452800	Weak transcription	K562	blood
27	chr12:121450000-121452800	Weak transcription	NH-A	brain
28	chr12:121450200-121453000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:121450200-121453000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr12:121450200-121453000	Weak transcription	HUVEC	blood vessel
31	chr12:121450200-121453400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr12:121450200-121453400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:121450200-121453400	Weak transcription	Colonic Mucosa	Colon
34	chr12:121450200-121453600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr12:121450200-121453600	Weak transcription	Placenta	Placenta
36	chr12:121450400-121452800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr12:121450400-121452800	Weak transcription	Fetal Intestine Large	intestine
38	chr12:121450400-121452800	Weak transcription	Fetal Lung	lung
39	chr12:121450400-121452800	Weak transcription	Gastric	stomach
40	chr12:121450400-121453000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:121450400-121453000	Weak transcription	Thymus	Thymus
42	chr12:121450400-121453400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr12:121450400-121453400	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr12:121450400-121453600	Weak transcription	Pancreas	Pancrea
45	chr12:121450400-121453600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr12:121450600-121453000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:121451000-121452600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr12:121451000-121453000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr12:121451000-121453000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr12:121451000-121453200	Weak transcription	Brain Hippocampus Middle	brain

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