Variant report

Variant	rs658521
Chromosome Location	chr12:121162414-121162415
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:121162269-121163936	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr12:121162080-121163810	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121124457..121126009-chr12:121161896..121164295,2	K562	blood:
2	chr12:121148319..121151196-chr12:121161623..121163655,2	K562	blood:
3	chr12:121146305..121152610-chr12:121160959..121168394,8	MCF-7	breast:
4	chr12:121159870..121162504-chr12:121416031..121417915,2	K562	blood:
5	chr12:121124509..121126833-chr12:121162138..121164295,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000256569	TF binding region
ACADS	TF binding region
ENSG00000110917	Chromatin interaction
ENSG00000241388	Chromatin interaction
ENSG00000175970	Chromatin interaction
ENSG00000135100	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10774566	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11065223	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11065231	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1464515	0.88[ASN][1000 genomes]
rs1464516	0.87[ASN][1000 genomes]
rs17847	0.86[CEU][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1814851	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2138249	0.87[ASN][1000 genomes]
rs2140093	0.88[ASN][1000 genomes]
rs2239760	0.82[CEU][hapmap];0.81[TSI][hapmap];0.85[EUR][1000 genomes]
rs2393749	0.89[CHD][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs2948149	0.82[EUR][1000 genomes]
rs3021338	0.80[EUR][1000 genomes]
rs3794214	0.91[CHD][hapmap];0.82[JPT][hapmap];0.89[TSI][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3794215	0.82[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3829290	0.82[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3914	0.96[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.86[GIH][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.82[EUR][1000 genomes]
rs3915	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs548093	0.91[EUR][1000 genomes]
rs555404	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.86[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs556001	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs575437	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6490300	0.84[AMR][1000 genomes]
rs695948	0.91[EUR][1000 genomes]
rs695949	0.94[EUR][1000 genomes]
rs695952	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs696337	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs696339	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs696340	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs697854	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs708783	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7308648	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7312316	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7964786	0.89[CHD][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs7976497	0.82[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7978125	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs998727	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	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
4	nsv899558	chr12:121161589-121179939	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121149800-121162800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:121150000-121163000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:121150400-121163200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:121151000-121163000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:121151200-121162600	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr12:121151200-121162600	Strong transcription	Fetal Stomach	stomach
7	chr12:121151200-121163000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:121151400-121163600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:121151800-121162600	Strong transcription	Fetal Lung	lung
10	chr12:121151800-121162600	Strong transcription	Placenta	Placenta
11	chr12:121155000-121162600	Weak transcription	Fetal Heart	heart
12	chr12:121157200-121162800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr12:121157600-121163000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:121158200-121162600	Weak transcription	Fetal Brain Male	brain
15	chr12:121158200-121163000	Weak transcription	Stomach Mucosa	stomach
16	chr12:121158400-121162600	Strong transcription	A549	lung
17	chr12:121158400-121163200	Weak transcription	Psoas Muscle	Psoas
18	chr12:121158400-121163600	Weak transcription	Small Intestine	intestine
19	chr12:121158600-121163000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr12:121159000-121162800	Strong transcription	HSMM	muscle
21	chr12:121159000-121162800	Strong transcription	NHEK	skin
22	chr12:121159200-121162600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:121159200-121162600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr12:121159200-121162600	Strong transcription	NHDF-Ad	bronchial
25	chr12:121159200-121162800	Strong transcription	Osteobl	bone
26	chr12:121159400-121162600	Strong transcription	Fetal Intestine Large	intestine
27	chr12:121159400-121162600	Strong transcription	Fetal Intestine Small	intestine
28	chr12:121159600-121162800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr12:121159800-121162600	Weak transcription	Right Atrium	heart
30	chr12:121160200-121162800	Weak transcription	Pancreas	Pancrea
31	chr12:121160200-121163600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:121160400-121162800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr12:121160600-121162600	Weak transcription	Lung	lung
34	chr12:121160600-121162800	Weak transcription	Primary B cells from peripheral blood	blood
35	chr12:121160600-121163000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr12:121160800-121162600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:121161000-121162600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr12:121161000-121162800	Weak transcription	HepG2	liver
39	chr12:121161000-121163000	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr12:121161000-121163000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr12:121161000-121163000	Weak transcription	Colonic Mucosa	Colon
42	chr12:121161000-121163200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr12:121161200-121162600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr12:121161200-121162600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:121161200-121162600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr12:121161200-121162600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr12:121161200-121162600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:121161200-121162600	Weak transcription	Brain Angular Gyrus	brain
49	chr12:121161200-121162600	Weak transcription	Brain Hippocampus Middle	brain
50	chr12:121161200-121162600	Weak transcription	Brain Inferior Temporal Lobe	brain

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