Variant report

Variant	rs73300028
Chromosome Location	chr12:51405939-51405940
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:6)
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	NR3C1	chr12:51405666-51406085	ECC-1	luminal epithelium:	n/a	n/a
2	TCF12	chr12:51405507-51406282	ECC-1	luminal epithelium:	n/a	n/a
3	TEAD4	chr12:51405677-51406123	ECC-1	luminal epithelium:	n/a	n/a
4	NFIC	chr12:51405594-51406260	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51405834..51407705-chr12:51409196..51411163,3	K562	blood:
2	chr12:51397497..51399942-chr12:51404608..51407015,3	MCF-7	breast:
3	chr12:51157683..51159798-chr12:51405816..51407695,2	MCF-7	breast:
4	chr12:51404460..51409575-chr12:51416331..51420356,8	MCF-7	breast:
5	chr12:51397539..51404278-chr12:51405080..51409503,9	MCF-7	breast:
6	chr12:51403352..51405981-chr12:51411330..51414858,3	K562	blood:

No data

Variant related genes	Relation type
SLC11A2	TF binding region
ENSG00000110911	Chromatin interaction
ENSG00000123268	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11832162	1.00[AMR][1000 genomes]
rs11832863	1.00[AMR][1000 genomes]
rs11834061	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11834248	1.00[AMR][1000 genomes]
rs11834310	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11836332	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11837720	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12308376	1.00[AMR][1000 genomes]
rs13378041	1.00[AMR][1000 genomes]
rs57268497	1.00[AMR][1000 genomes]
rs59268299	1.00[AMR][1000 genomes]
rs59487164	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60167482	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60725885	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297963	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297974	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73300007	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73300044	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73300051	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73308084	1.00[AMR][1000 genomes]
rs73310015	1.00[AMR][1000 genomes]
rs73310018	1.00[AMR][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	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51386000-51406600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:51386000-51414200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:51388600-51406600	Weak transcription	Small Intestine	intestine
4	chr12:51399000-51406200	Weak transcription	Colon Smooth Muscle	Colon
5	chr12:51399200-51418000	Weak transcription	Gastric	stomach
6	chr12:51399400-51408200	Weak transcription	NHDF-Ad	bronchial
7	chr12:51399800-51406800	Weak transcription	A549	lung
8	chr12:51399800-51414600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr12:51399800-51415600	Weak transcription	Right Ventricle	heart
10	chr12:51400000-51407200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:51400000-51407400	Weak transcription	HMEC	breast
12	chr12:51401000-51410800	Weak transcription	HepG2	liver
13	chr12:51401400-51417800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr12:51401600-51410000	Weak transcription	Pancreas	Pancrea
15	chr12:51402000-51418000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:51402000-51418000	Weak transcription	Fetal Stomach	stomach
17	chr12:51402400-51406200	Weak transcription	Fetal Lung	lung
18	chr12:51402400-51406400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:51402400-51407200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr12:51402400-51407200	Weak transcription	Lung	lung
21	chr12:51402400-51408600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr12:51402400-51415600	Weak transcription	GM12878-XiMat	blood
23	chr12:51402400-51417200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:51402400-51417600	Weak transcription	Left Ventricle	heart
25	chr12:51402400-51418000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:51402600-51406400	Enhancers	Fetal Brain Male	brain
27	chr12:51402600-51406800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr12:51403000-51406600	Weak transcription	Fetal Muscle Leg	muscle
29	chr12:51403000-51406600	Weak transcription	Placenta	Placenta
30	chr12:51403000-51418000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:51403200-51406200	Weak transcription	K562	blood
32	chr12:51403200-51407600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:51403400-51407600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr12:51403400-51415600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:51403400-51417600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr12:51403600-51406000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr12:51403600-51406000	Weak transcription	Fetal Heart	heart
38	chr12:51403600-51406200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr12:51403600-51406600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr12:51403600-51406600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr12:51403600-51406600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:51403600-51406800	Weak transcription	Duodenum Mucosa	Duodenum
43	chr12:51403600-51407000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:51403600-51407400	Enhancers	Brain Hippocampus Middle	brain
45	chr12:51403600-51407600	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr12:51403600-51410200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr12:51403600-51412000	Weak transcription	Fetal Intestine Small	intestine
48	chr12:51403600-51414200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr12:51403600-51414400	Weak transcription	Hela-S3	cervix
50	chr12:51403600-51414600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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