Variant report

Variant	rs7305783
Chromosome Location	chr12:50651669-50651670
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR3C1	chr12:50651581-50652143	A549	lung:	n/a	n/a
2	SP1	chr12:50651460-50652242	A549	lung:	n/a	n/a
3	KAP1	chr12:50651068-50652198	HEK293	kidney:	n/a	n/a
4	TCF12	chr12:50651373-50652284	A549	lung:	n/a	n/a
5	NR3C1	chr12:50651630-50652123	A549	lung:	n/a	n/a
6	NR3C1	chr12:50651668-50651990	A549	lung:	n/a	n/a
7	SP1	chr12:50651402-50652103	A549	lung:	n/a	n/a
8	FOXA2	chr12:50651572-50652345	A549	lung:	n/a	n/a
9	FOXA1	chr12:50651649-50652092	T-47D	breast:	n/a	n/a
10	NFIC	chr12:50651040-50652429	ECC-1	luminal epithelium:	n/a	n/a
11	FOXA1	chr12:50651583-50652142	A549	lung:	n/a	n/a
12	NFIC	chr12:50650919-50652523	ECC-1	luminal epithelium:	n/a	n/a
13	FOSL2	chr12:50651566-50652135	A549	lung:	n/a	n/a
14	FOXA2	chr12:50651644-50652177	A549	lung:	n/a	n/a
15	RCOR1	chr12:50651612-50651962	Hela-S3	cervix:	n/a	n/a
16	NFIC	chr12:50651246-50652011	SK-N-SH	brain:	n/a	n/a
17	FOXA1	chr12:50651607-50652227	A549	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50650219..50652868-chr12:50794278..50797151,2	K562	blood:
2	chr12:50643519..50647012-chr12:50649051..50651928,4	K562	blood:

No data

Variant related genes	Relation type
RNU6-1093P	TF binding region
ENSG00000050405	Chromatin interaction
ENSG00000161813	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10083076	1.00[AMR][1000 genomes]
rs11169403	1.00[AMR][1000 genomes]
rs12297832	1.00[AMR][1000 genomes]
rs12298057	1.00[AMR][1000 genomes]
rs12302910	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12308132	1.00[AMR][1000 genomes]
rs12308735	1.00[AMR][1000 genomes]
rs12312142	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12312218	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12314391	1.00[AMR][1000 genomes]
rs12316153	1.00[AMR][1000 genomes]
rs12317780	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12318245	1.00[AMR][1000 genomes]
rs7298085	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9651998	1.00[AFR][1000 genomes];1.00[AMR][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	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	nsv899075	chr12:50594947-50835060	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
3	esv2761738	chr12:50627292-50836427	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
4	nsv1035796	chr12:50634342-50784312	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50616800-50651800	Weak transcription	Brain Anterior Caudate	brain
2	chr12:50636600-50651800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr12:50641000-50662000	Weak transcription	Brain Germinal Matrix	brain
4	chr12:50641200-50653200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:50641400-50659600	Weak transcription	Esophagus	oesophagus
6	chr12:50641800-50651800	Weak transcription	Fetal Stomach	stomach
7	chr12:50641800-50651800	Weak transcription	Right Ventricle	heart
8	chr12:50641800-50652000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:50642600-50652000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr12:50644000-50652000	Weak transcription	Ovary	ovary
11	chr12:50648400-50651800	Weak transcription	NH-A	brain
12	chr12:50648600-50651800	Weak transcription	Spleen	Spleen
13	chr12:50648800-50668000	Weak transcription	Lung	lung
14	chr12:50649000-50651800	Enhancers	Hela-S3	cervix
15	chr12:50649200-50652000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:50649200-50665400	Weak transcription	Aorta	Aorta
17	chr12:50649200-50671000	Weak transcription	Small Intestine	intestine
18	chr12:50649600-50659600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr12:50650000-50654200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:50650400-50652400	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr12:50650400-50654600	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr12:50650600-50653600	Enhancers	NHEK	skin
23	chr12:50650600-50654000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:50650800-50651800	Enhancers	GM12878-XiMat	blood
25	chr12:50650800-50652400	Enhancers	HSMM	muscle
26	chr12:50650800-50654600	Enhancers	Stomach Mucosa	stomach
27	chr12:50650800-50655800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:50651000-50652000	Enhancers	Fetal Intestine Small	intestine
29	chr12:50651000-50652000	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr12:50651000-50652400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr12:50651000-50652400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr12:50651000-50652400	Enhancers	Placenta	Placenta
33	chr12:50651000-50652400	Enhancers	Placenta Amnion	Placenta Amnion
34	chr12:50651000-50652400	Enhancers	Psoas Muscle	Psoas
35	chr12:50651000-50652400	Enhancers	Right Atrium	heart
36	chr12:50651000-50652600	Enhancers	Fetal Muscle Leg	muscle
37	chr12:50651000-50652800	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr12:50651000-50653000	Enhancers	HSMMtube	muscle
39	chr12:50651000-50653800	Enhancers	NHDF-Ad	bronchial
40	chr12:50651000-50654000	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr12:50651000-50654200	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr12:50651000-50654600	Enhancers	HMEC	breast
43	chr12:50651000-50655600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:50651000-50655600	Enhancers	Duodenum Mucosa	Duodenum
45	chr12:50651200-50651800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:50651200-50652000	Enhancers	Brain Angular Gyrus	brain
47	chr12:50651200-50652200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:50651200-50652200	Enhancers	Brain Cingulate Gyrus	brain
49	chr12:50651200-50652200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr12:50651200-50652200	Enhancers	Fetal Heart	heart

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