Variant report

Variant	rs12274103
Chromosome Location	chr11:77332316-77332317
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	chr11:77332208-77332400	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:77330004..77332992-chr11:77346555..77348948,4	K562	blood:
2	chr11:77330873..77332482-chr11:77334732..77337202,2	K562	blood:

Variant related genes	Relation type
CLNS1A	TF binding region
ENSG00000074201	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11237276	1.00[AFR][1000 genomes]
rs12274511	1.00[AFR][1000 genomes]
rs12280778	1.00[AFR][1000 genomes]
rs12289802	1.00[AFR][1000 genomes]
rs12295947	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats 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	24 gene(s)	inside rSNPs	diseases
3	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription 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	29 gene(s)	inside rSNPs	diseases
5	nsv1038974	chr11:77284036-77431228	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1041384	chr11:77284558-77419809	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1048892	chr11:77290458-77431228	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1053074	chr11:77290458-77435831	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv468641	chr11:77301341-77420314	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
10	nsv555452	chr11:77301341-77420314	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
11	nsv1035494	chr11:77309696-77431228	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77301400-77346000	Weak transcription	Small Intestine	intestine
2	chr11:77301600-77332800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:77301800-77345800	Weak transcription	Spleen	Spleen
4	chr11:77313000-77345200	Weak transcription	Gastric	stomach
5	chr11:77313000-77347400	Weak transcription	Colonic Mucosa	Colon
6	chr11:77314000-77345800	Weak transcription	Pancreas	Pancrea
7	chr11:77314000-77347400	Weak transcription	Fetal Heart	heart
8	chr11:77315000-77341800	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr11:77315200-77341400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr11:77315600-77341000	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr11:77316400-77338400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:77316400-77341400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:77316400-77346800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:77316600-77337200	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr11:77316600-77344200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr11:77316600-77347000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:77317000-77337400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:77317200-77336800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr11:77317200-77337400	Strong transcription	Fetal Thymus	thymus
20	chr11:77317400-77340200	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr11:77317400-77340400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:77317600-77337600	Strong transcription	Dnd41	blood
23	chr11:77318000-77337000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr11:77321000-77347800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr11:77321600-77337200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:77322000-77341000	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr11:77322400-77340200	Strong transcription	Primary B cells from peripheral blood	blood
28	chr11:77323200-77332600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:77323200-77334200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:77323400-77332800	Weak transcription	Right Ventricle	heart
31	chr11:77323400-77348000	Weak transcription	Aorta	Aorta
32	chr11:77323600-77332600	Weak transcription	Brain Angular Gyrus	brain
33	chr11:77323600-77347200	Weak transcription	Fetal Brain Male	brain
34	chr11:77323800-77341400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:77325400-77337200	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr11:77325800-77335200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr11:77326000-77340400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr11:77326600-77332800	Weak transcription	NH-A	brain
39	chr11:77326600-77347200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr11:77327400-77340800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr11:77327600-77341000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:77328000-77332600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr11:77328000-77336200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr11:77328200-77332400	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr11:77328200-77332800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr11:77328200-77334200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr11:77328200-77347200	Weak transcription	Psoas Muscle	Psoas
48	chr11:77328600-77332600	Weak transcription	Brain Germinal Matrix	brain
49	chr11:77329200-77333800	Strong transcription	Colon Smooth Muscle	Colon
50	chr11:77329200-77337400	Strong transcription	Primary T cells from cord blood	blood

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