Variant report

Variant	rs278148
Chromosome Location	chr12:120113622-120113623
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:120113283-120113863	HepG2	liver:	n/a	n/a
2	POLR2A	chr12:120113449-120114207	K562	blood:	n/a	n/a
3	POLR2A	chr12:120111898-120115572	K562	blood:	n/a	n/a
4	POLR2A	chr12:120113594-120113727	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:118573285..118575516-chr12:120113161..120114870,2	K562	blood:
2	chr12:120105122..120114412-chr12:120115205..120125435,13	MCF-7	breast:
3	chr12:120104335..120107623-chr12:120110345..120114528,7	MCF-7	breast:
4	chr12:120104750..120107660-chr12:120111377..120114502,3	MCF-7	breast:

No data

Variant related genes	Relation type
PRKAB1	TF binding region
ENSG00000111725	Chromatin interaction
ENSG00000089220	Chromatin interaction
ENSG00000248636	Chromatin interaction
ENSG00000176834	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10774503	0.84[CEU][hapmap]
rs10849688	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849690	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064873	0.83[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs175878	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1978107	0.83[CEU][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1978108	0.84[CEU][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs278123	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278126	0.83[CEU][hapmap];1.00[ASN][1000 genomes]
rs278143	1.00[CEU][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278144	1.00[CEU][hapmap];0.84[YRI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278145	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278147	1.00[CEU][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278149	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278151	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278152	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278154	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278155	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3930004	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4213	1.00[CEU][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6490266	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6490267	0.92[CEU][hapmap];0.86[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7301592	0.88[CEU][hapmap]
rs7304996	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310266	0.83[CEU][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311779	0.84[CEU][hapmap]
rs7312321	0.88[CEU][hapmap]
rs7960723	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7963248	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967558	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7972600	0.84[CEU][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7979627	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs804667	0.83[CEU][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052595	chr12:119992580-120132038	Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv541616	chr12:119992580-120132038	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr12:120106800-120116600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:120107400-120116400	Strong transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:120107400-120120400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:120107600-120116000	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr12:120107600-120116200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:120107800-120116400	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:120107800-120116400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr12:120107800-120119000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:120107800-120120200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:120107800-120120200	Strong transcription	Stomach Smooth Muscle	stomach
11	chr12:120107800-120120600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:120108000-120119600	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr12:120108000-120120600	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr12:120108200-120115800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:120108200-120119800	Strong transcription	Fetal Thymus	thymus
16	chr12:120108200-120120200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:120108200-120120400	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr12:120108200-120122000	Strong transcription	A549	lung
19	chr12:120108200-120161000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:120108400-120120000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:120108400-120120000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr12:120108400-120120200	Strong transcription	Osteobl	bone
23	chr12:120108600-120116000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:120108600-120120200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:120108600-120120200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr12:120108800-120118000	Strong transcription	Liver	Liver
27	chr12:120108800-120118200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr12:120108800-120119400	Strong transcription	NHEK	skin
29	chr12:120108800-120119800	Strong transcription	Hela-S3	cervix
30	chr12:120108800-120120200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:120108800-120120200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:120108800-120120800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:120109000-120116200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:120109000-120119400	Strong transcription	Brain Inferior Temporal Lobe	brain
35	chr12:120109000-120120200	Strong transcription	Dnd41	blood
36	chr12:120109200-120120200	Strong transcription	Thymus	Thymus
37	chr12:120109200-120121200	Strong transcription	Fetal Stomach	stomach
38	chr12:120109400-120117000	Strong transcription	Fetal Brain Male	brain
39	chr12:120109400-120118400	Strong transcription	Fetal Kidney	kidney
40	chr12:120109400-120119000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:120109400-120119800	Strong transcription	Aorta	Aorta
42	chr12:120109400-120120000	Strong transcription	Fetal Brain Female	brain
43	chr12:120109400-120120200	Strong transcription	H9 Cell Line	embryonic stem cell
44	chr12:120109400-120120200	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr12:120109400-120120400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr12:120109400-120121200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:120109600-120116200	Strong transcription	HepG2	liver
48	chr12:120109600-120118000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr12:120109600-120120400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:120109800-120116000	Strong transcription	NHDF-Ad	bronchial

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