Variant report

Variant	rs12807989
Chromosome Location	chr11:32611835-32611836
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:32611504-32612229	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:32610985-32616745	K562	blood:	n/a	n/a
3	POLR2A	chr11:32611716-32612266	K562	blood:	n/a	n/a
4	POLR2A	chr11:32611766-32611904	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr11:32611469-32612285	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr11:32611732-32612075	K562	blood:	n/a	n/a
7	POLR2A	chr11:32611368-32612315	GM12892	blood:	n/a	n/a
8	POLR2A	chr11:32611490-32612323	HepG2	liver:	n/a	n/a
9	POLR2A	chr11:32611443-32612217	A549	lung:	n/a	n/a
10	POLR2A	chr11:32611813-32612248	GM12892	blood:	n/a	n/a
11	POLR2A	chr11:32611767-32612239	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:32605232..32608580-chr11:32610157..32613118,3	MCF-7	breast:

Variant related genes	Relation type
EIF3M	TF binding region
ENSG00000149100	Chromatin interaction

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

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

rs_ID	r²[population]
rs12787891	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12788831	0.96[EUR][1000 genomes]
rs12789547	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12789734	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12792216	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12794499	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12796070	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12805291	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12807888	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12808227	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34254797	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34495676	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35020878	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35253549	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36071525	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4359178	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67535916	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67559057	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7111865	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7126059	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71479164	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71479166	0.80[AMR][1000 genomes];0.96[EUR][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	esv3459086	chr11:32611095-32615504	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv3459097	chr11:32611095-32615504	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32606800-32613400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:32606800-32613400	Weak transcription	Aorta	Aorta
3	chr11:32606800-32616000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:32607000-32617000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr11:32607200-32612000	Weak transcription	Brain Angular Gyrus	brain
6	chr11:32607800-32613200	Weak transcription	Small Intestine	intestine
7	chr11:32607800-32621200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:32607800-32628400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:32608200-32619400	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr11:32608400-32612000	Weak transcription	Psoas Muscle	Psoas
11	chr11:32608400-32616200	Genic enhancers	Primary monocytes fromperipheralblood	blood
12	chr11:32608400-32619000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr11:32608400-32619400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:32608400-32619400	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr11:32608400-32628200	Strong transcription	HSMM	muscle
16	chr11:32608600-32617000	Strong transcription	A549	lung
17	chr11:32608600-32618400	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr11:32608600-32619400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:32608600-32628400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:32608800-32628000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:32609000-32628200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:32609000-32629600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:32609200-32623400	Strong transcription	Hela-S3	cervix
24	chr11:32609200-32623800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:32609400-32618400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:32609400-32630200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:32609600-32612800	Strong transcription	Fetal Intestine Small	intestine
28	chr11:32609600-32618600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:32609600-32618600	Strong transcription	Fetal Stomach	stomach
30	chr11:32609800-32617800	Strong transcription	HepG2	liver
31	chr11:32609800-32617800	Strong transcription	K562	blood
32	chr11:32609800-32619800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:32609800-32626000	Strong transcription	NHDF-Ad	bronchial
34	chr11:32609800-32628000	Strong transcription	Fetal Thymus	thymus
35	chr11:32610000-32616000	Strong transcription	Fetal Kidney	kidney
36	chr11:32610000-32616000	Strong transcription	NHLF	lung
37	chr11:32610000-32616200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr11:32610000-32616400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
39	chr11:32610000-32617200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
40	chr11:32610000-32617200	Strong transcription	NHEK	skin
41	chr11:32610000-32618600	Strong transcription	H9 Cell Line	embryonic stem cell
42	chr11:32610000-32618600	Strong transcription	Rectal Smooth Muscle	rectum
43	chr11:32610000-32618800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:32610000-32619200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr11:32610000-32619800	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr11:32610000-32619800	Strong transcription	Left Ventricle	heart
47	chr11:32610000-32620200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:32610000-32621200	Strong transcription	Liver	Liver
49	chr11:32610000-32621200	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr11:32610000-32626000	Strong transcription	Placenta	Placenta

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