Variant report

Variant	rs2146411
Chromosome Location	chr6:109765788-109765789
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:109765747-109766609	K562	blood:	n/a	n/a
2	POLR2A	chr6:109764767-109765844	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr6:109765770-109771599	GM12892	blood:	n/a	n/a
4	POLR2A	chr6:109765785-109766180	K562	blood:	n/a	n/a
5	POLR2A	chr6:109765681-109771914	GM12892	blood:	n/a	n/a
6	POLR2A	chr6:109765710-109771793	GM12878	blood:	n/a	n/a
7	POLR2A	chr6:109763209-109771395	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr6:109761500-109772072	GM12892	blood:	n/a	n/a
9	POLR2A	chr6:109761656-109772338	GM12878	blood:	n/a	n/a
10	POLR2A	chr6:109761808-109772355	GM12891	blood:	n/a	n/a
11	POLR2A	chr6:109763255-109772269	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:109739441..109742103-chr6:109765700..109768387,2	MCF-7	breast:
2	chr6:109764530..109766922-chr6:109796354..109798276,2	K562	blood:
3	chr6:109765568..109767233-chr6:109789401..109791135,2	MCF-7	breast:
4	chr6:109764918..109767515-chr6:109797927..109799949,2	MCF-7	breast:
5	chr6:109701746..109704787-chr6:109765536..109768393,4	K562	blood:
6	chr6:109701777..109705568-chr6:109765713..109769272,5	K562	blood:
7	chr6:109764609..109767226-chr6:109791352..109794243,2	K562	blood:

No data

Variant related genes	Relation type
PPIL6	TF binding region
ENSG00000260273	Chromatin interaction
ENSG00000135535	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10080925	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13437492	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17070554	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17070590	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1998410	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1998411	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2177092	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2275649	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3757229	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3757237	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41288560	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4946968	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4946971	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4946972	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4946975	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4946977	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6907769	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs749621	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs752260	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9480934	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9480954	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9487074	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9487083	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9487087	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9487099	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9487106	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9487109	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:109762800-109775800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:109763200-109774400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:109763200-109775600	Weak transcription	Fetal Kidney	kidney
4	chr6:109763200-109775800	Weak transcription	HUVEC	blood vessel
5	chr6:109763400-109765800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr6:109763400-109766000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr6:109763400-109766200	Genic enhancers	Esophagus	oesophagus
8	chr6:109763400-109766400	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr6:109763400-109768600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
10	chr6:109763400-109770400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:109763400-109775000	Strong transcription	NHLF	lung
12	chr6:109763400-109775200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:109763600-109766000	Weak transcription	Brain Angular Gyrus	brain
14	chr6:109763600-109767400	Strong transcription	Skeletal Muscle Female	skeletal muscle
15	chr6:109763600-109768200	Strong transcription	Fetal Lung	lung
16	chr6:109763600-109768400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:109763600-109768400	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr6:109763600-109768400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:109763600-109768400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:109763600-109768600	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr6:109763600-109768600	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr6:109763600-109768800	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr6:109763600-109768800	Strong transcription	Brain Anterior Caudate	brain
24	chr6:109763600-109769400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:109763600-109769600	Weak transcription	Brain Substantia Nigra	brain
26	chr6:109763600-109770000	Strong transcription	NHEK	skin
27	chr6:109763600-109770800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr6:109763600-109773200	Weak transcription	Fetal Brain Male	brain
29	chr6:109763600-109775000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:109763600-109775200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr6:109763600-109775800	Weak transcription	Right Atrium	heart
32	chr6:109763800-109767000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:109763800-109767200	Strong transcription	Rectal Smooth Muscle	rectum
34	chr6:109763800-109768000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr6:109763800-109768000	Strong transcription	Brain Hippocampus Middle	brain
36	chr6:109763800-109768400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:109763800-109768400	Strong transcription	Liver	Liver
38	chr6:109763800-109769000	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr6:109763800-109769000	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr6:109763800-109769600	Strong transcription	Fetal Muscle Leg	muscle
41	chr6:109763800-109769800	Strong transcription	Thymus	Thymus
42	chr6:109763800-109770600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr6:109763800-109770600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr6:109763800-109770800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr6:109763800-109771000	Strong transcription	Fetal Intestine Small	intestine
46	chr6:109763800-109774400	Strong transcription	HSMM	muscle
47	chr6:109763800-109774600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr6:109763800-109774800	Strong transcription	Fetal Stomach	stomach
49	chr6:109763800-109774800	Weak transcription	Small Intestine	intestine
50	chr6:109763800-109775400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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