Variant report

Variant	rs12281071
Chromosome Location	chr11:102318968-102318969
allele	C/T
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	chr11:102318963-102319115	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:102318611-102319913	HepG2	liver:	n/a	n/a
3	IRF1	chr11:102318854-102319355	K562	blood:	n/a	n/a
4	POLR2A	chr11:102318493-102320049	HepG2	liver:	n/a	n/a
5	KAP1	chr11:102318531-102319273	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:102301204..102303271-chr11:102318282..102320152,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255337	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12270320	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12271866	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12282530	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13377311	0.88[AFR][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	esv3514195	chr11:102118479-102348362	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv3514197	chr11:102118479-102348362	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1035567	chr11:102264516-102431607	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv898334	chr11:102272884-102353192	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102300400-102319800	Weak transcription	Fetal Kidney	kidney
2	chr11:102300800-102320600	Weak transcription	Ovary	ovary
3	chr11:102301200-102320800	Weak transcription	Left Ventricle	heart
4	chr11:102301400-102319800	Weak transcription	Pancreas	Pancrea
5	chr11:102301400-102320600	Weak transcription	Right Ventricle	heart
6	chr11:102301400-102320800	Weak transcription	Adipose Nuclei	Adipose
7	chr11:102301400-102321000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr11:102301400-102322400	Weak transcription	Spleen	Spleen
9	chr11:102304000-102320600	Weak transcription	Fetal Brain Female	brain
10	chr11:102304000-102322400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:102304200-102322000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr11:102306800-102319800	Weak transcription	Hela-S3	cervix
13	chr11:102306800-102320400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:102308600-102319800	Weak transcription	Esophagus	oesophagus
15	chr11:102309600-102320400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:102309600-102322400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:102309800-102320400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr11:102309800-102320600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:102309800-102322400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:102310000-102319600	Weak transcription	Gastric	stomach
21	chr11:102310000-102319800	Weak transcription	Fetal Muscle Leg	muscle
22	chr11:102310000-102321600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:102310200-102322400	Weak transcription	Lung	lung
24	chr11:102314400-102320800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr11:102314800-102319000	Strong transcription	Fetal Thymus	thymus
26	chr11:102314800-102319200	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr11:102314800-102319200	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr11:102314800-102319600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr11:102314800-102320800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:102315000-102319400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:102315200-102319400	Strong transcription	Fetal Intestine Large	intestine
32	chr11:102315600-102320600	Weak transcription	Psoas Muscle	Psoas
33	chr11:102315800-102319800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr11:102316000-102319000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr11:102316000-102319000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:102316000-102319000	Strong transcription	Dnd41	blood
37	chr11:102316000-102319200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr11:102316000-102319800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:102316000-102319800	Weak transcription	Fetal Heart	heart
40	chr11:102316000-102320200	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr11:102316200-102319000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:102316200-102319000	Genic enhancers	HepG2	liver
43	chr11:102316200-102319200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr11:102316200-102319200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr11:102316200-102319400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:102316200-102319800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr11:102316400-102319000	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr11:102316400-102319000	Weak transcription	Stomach Mucosa	stomach
49	chr11:102316400-102319400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr11:102316400-102319600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood

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