Variant report

Variant	rs1031476
Chromosome Location	chr12:50218433-50218434
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:50218340-50218534	K562	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50216203..50220741-chr12:50220862..50224448,8	MCF-7	breast:
2	chr12:50216965..50224421-chr12:50234869..50238255,17	MCF-7	breast:
3	chr12:50203774..50205961-chr12:50217957..50219971,2	K562	blood:
4	chr12:50186306..50187844-chr12:50216014..50218551,2	K562	blood:
5	chr12:50197055..50201000-chr12:50217056..50221303,4	K562	blood:
6	chr12:50137650..50140394-chr12:50217891..50219857,2	MCF-7	breast:
7	chr12:50169257..50171499-chr12:50217406..50219140,2	MCF-7	breast:
8	chr12:50216445..50219303-chr12:50297052..50298599,2	K562	blood:
9	chr12:50181461..50183796-chr12:50216518..50220004,3	MCF-7	breast:
10	chr12:50133925..50140140-chr12:50217980..50223924,8	K562	blood:
11	chr12:50217971..50224800-chr12:50231213..50239207,27	MCF-7	breast:
12	chr12:50210959..50213852-chr12:50216092..50218529,3	K562	blood:

No data

Variant related genes	Relation type
BCDIN3D-AS1	TF binding region
ENSG00000139644	Chromatin interaction
ENSG00000258057	Chromatin interaction
ENSG00000186666	Chromatin interaction
ENSG00000135472	Chromatin interaction
ENSG00000167566	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1031477	0.82[EUR][1000 genomes]
rs11169166	0.82[EUR][1000 genomes]
rs11169167	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs897054	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv522972	chr12:50196394-50410831	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50197600-50220400	Weak transcription	A549	lung
2	chr12:50200000-50219400	Weak transcription	Gastric	stomach
3	chr12:50203600-50219800	Weak transcription	Aorta	Aorta
4	chr12:50203800-50218600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:50204400-50220200	Weak transcription	Fetal Kidney	kidney
6	chr12:50205200-50219000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:50205200-50220000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:50208800-50221200	Weak transcription	Small Intestine	intestine
9	chr12:50213600-50219000	Enhancers	Brain Hippocampus Middle	brain
10	chr12:50213600-50219000	Genic enhancers	Fetal Muscle Leg	muscle
11	chr12:50213800-50218800	Weak transcription	Hela-S3	cervix
12	chr12:50213800-50219000	Genic enhancers	Fetal Muscle Trunk	muscle
13	chr12:50214400-50220200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr12:50214400-50220800	Enhancers	Placenta	Placenta
15	chr12:50215200-50221000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr12:50215400-50218600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr12:50215400-50218800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:50215400-50219000	Weak transcription	Colonic Mucosa	Colon
19	chr12:50215400-50219200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:50215400-50219200	Weak transcription	Pancreas	Pancrea
21	chr12:50215400-50219600	Weak transcription	Liver	Liver
22	chr12:50215600-50218600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr12:50215600-50218800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
24	chr12:50215800-50218600	Weak transcription	Fetal Lung	lung
25	chr12:50215800-50219000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:50215800-50219600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:50215800-50220600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr12:50215800-50221200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr12:50216000-50218600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr12:50216000-50218800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr12:50216000-50219000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:50216000-50220000	Weak transcription	Thymus	Thymus
33	chr12:50216000-50221000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr12:50216000-50221000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr12:50216200-50219200	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr12:50216200-50220000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr12:50216200-50220600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr12:50216200-50220800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr12:50216400-50219800	Weak transcription	Primary T cells from cord blood	blood
40	chr12:50216600-50220200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr12:50216800-50218600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:50216800-50218600	Enhancers	HSMMtube	muscle
43	chr12:50216800-50218600	Strong transcription	NHEK	skin
44	chr12:50216800-50219400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:50216800-50219400	Enhancers	Left Ventricle	heart
46	chr12:50216800-50220600	Weak transcription	Psoas Muscle	Psoas
47	chr12:50217000-50219000	Enhancers	Right Atrium	heart
48	chr12:50217000-50219000	Enhancers	HepG2	liver
49	chr12:50217000-50220200	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr12:50217200-50220000	Enhancers	Colon Smooth Muscle	Colon

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