Variant report

Variant	rs1389302
Chromosome Location	chr12:58205504-58205505
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:7)
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	chr12:58205257-58205509	Hela-S3	cervix:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:58203855..58205863-chr12:58206408..58208467,2	K562	blood:
2	chr12:58205281..58208353-chr12:58208928..58211653,3	MCF-7	breast:
3	chr12:58204642..58207251-chr12:58217702..58220809,3	MCF-7	breast:
4	chr12:58165897..58167400-chr12:58204557..58206324,2	MCF-7	breast:
5	chr12:58155623..58158327-chr12:58204942..58207144,2	MCF-7	breast:
6	chr12:58176873..58178429-chr12:58205054..58207229,2	MCF-7	breast:
7	chr12:58158981..58161238-chr12:58203648..58206899,4	MCF-7	breast:

No data

Variant related genes	Relation type
AVIL	TF binding region
ENSG00000269903	TF binding region
ENSG00000175215	Chromatin interaction
ENSG00000207789	Chromatin interaction
ENSG00000257921	Chromatin interaction
ENSG00000037897	Chromatin interaction
ENSG00000135407	Chromatin interaction
ENSG00000269903	Chromatin interaction
ENSG00000111012	Chromatin interaction
ENSG00000123427	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11172336	1.00[AMR][1000 genomes]
rs11172339	1.00[AMR][1000 genomes]
rs11172348	0.83[AMR][1000 genomes]
rs11555555	0.83[AMR][1000 genomes]
rs11829917	0.83[AMR][1000 genomes]
rs12297574	0.83[AMR][1000 genomes]
rs12297635	0.83[AMR][1000 genomes]
rs12297639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12321371	1.00[AMR][1000 genomes]
rs8176348	0.93[YRI][hapmap];0.83[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559046	chr12:58162085-58478598	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	261 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	chr12:58177400-58216400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:58178600-58207600	Strong transcription	Liver	Liver
3	chr12:58181400-58216000	Weak transcription	Fetal Brain Male	brain
4	chr12:58187000-58216600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:58187200-58215600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:58188600-58207800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:58189000-58208400	Strong transcription	Fetal Stomach	stomach
8	chr12:58189200-58207800	Strong transcription	Skeletal Muscle Female	skeletal muscle
9	chr12:58189400-58207200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:58189800-58208400	Strong transcription	Placenta	Placenta
11	chr12:58190200-58216600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:58190400-58208000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:58190800-58215200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr12:58190800-58216200	Weak transcription	HUVEC	blood vessel
15	chr12:58191000-58216400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:58191200-58213600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr12:58191200-58216200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr12:58191800-58208400	Weak transcription	Psoas Muscle	Psoas
19	chr12:58192000-58210600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr12:58192200-58216200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr12:58192400-58205600	Strong transcription	Lung	lung
22	chr12:58193000-58210200	Strong transcription	Fetal Intestine Small	intestine
23	chr12:58193200-58215000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr12:58193400-58216200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr12:58194200-58215200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr12:58195200-58210600	Weak transcription	Small Intestine	intestine
27	chr12:58197200-58211600	Weak transcription	A549	lung
28	chr12:58197200-58216400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr12:58197600-58206400	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr12:58197800-58208000	Strong transcription	Skeletal Muscle Male	skeletal muscle
31	chr12:58198200-58207400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:58198400-58215000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr12:58199200-58207000	Strong transcription	Stomach Smooth Muscle	stomach
34	chr12:58199800-58206800	Strong transcription	Brain Anterior Caudate	brain
35	chr12:58199800-58207200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr12:58200000-58205600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr12:58200000-58205600	Strong transcription	Brain Cingulate Gyrus	brain
38	chr12:58200000-58205600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr12:58200000-58205600	Strong transcription	Left Ventricle	heart
40	chr12:58200000-58205800	Strong transcription	Ovary	ovary
41	chr12:58200000-58206000	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr12:58200000-58207000	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr12:58200000-58207200	Strong transcription	Fetal Muscle Trunk	muscle
44	chr12:58200000-58207200	Strong transcription	Right Ventricle	heart
45	chr12:58200000-58207400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:58200000-58207400	Strong transcription	Adipose Nuclei	Adipose
47	chr12:58200000-58207400	Strong transcription	Pancreas	Pancrea
48	chr12:58200000-58207400	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr12:58200000-58207800	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr12:58200000-58208000	Strong transcription	Fetal Muscle Leg	muscle

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