Variant report

Variant	rs12278254
Chromosome Location	chr11:85693954-85693955
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	JUN	chr11:85693879-85693977	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:85685544..85689773-chr11:85693823..85697719,5	K562	blood:

Variant related genes	Relation type
PICALM	TF binding region
ENSG00000073921	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10501606	1.00[AMR][1000 genomes]
rs10898429	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11234482	1.00[AMR][1000 genomes]
rs11234484	1.00[AMR][1000 genomes]
rs11234490	1.00[AMR][1000 genomes]
rs11234498	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11234506	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11234509	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11234516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11234521	1.00[AMR][1000 genomes]
rs11234522	1.00[AMR][1000 genomes]
rs11234526	1.00[AMR][1000 genomes]
rs11234527	1.00[AMR][1000 genomes]
rs11234528	1.00[AMR][1000 genomes]
rs11234529	1.00[AMR][1000 genomes]
rs11234530	1.00[AMR][1000 genomes]
rs11234553	1.00[AMR][1000 genomes]
rs11234557	1.00[AMR][1000 genomes]
rs12270430	1.00[AMR][1000 genomes]
rs12270938	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12272711	1.00[AMR][1000 genomes]
rs12276323	1.00[AMR][1000 genomes]
rs12280026	1.00[AMR][1000 genomes]
rs12283011	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12283160	1.00[AMR][1000 genomes]
rs12283400	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12283463	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12283835	1.00[AMR][1000 genomes]
rs12286862	1.00[AMR][1000 genomes]
rs12288262	1.00[AMR][1000 genomes]
rs12290708	1.00[AMR][1000 genomes]
rs12292101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12292953	0.96[AFR][1000 genomes]
rs12293426	1.00[AMR][1000 genomes]
rs12295435	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13377593	1.00[AMR][1000 genomes]
rs9804530	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv1035489	chr11:85502953-85778229	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1048818	chr11:85524635-85746473	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv541116	chr11:85524635-85746473	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1053808	chr11:85588919-85757693	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS 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	12 gene(s)	inside rSNPs	diseases
7	nsv468769	chr11:85683554-85757589	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv555641	chr11:85683554-85757589	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv898054	chr11:85683554-85772636	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv469975	chr11:85688209-85729372	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv468770	chr11:85688209-85751883	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv555642	chr11:85688209-85751883	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv468771	chr11:85688209-85757589	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv468773	chr11:85688209-85757589	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv555643	chr11:85688209-85757589	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv468774	chr11:85688209-85775059	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
17	nsv555644	chr11:85688209-85775059	Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85659400-85745800	Weak transcription	Stomach Mucosa	stomach
2	chr11:85663800-85740200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:85664400-85699800	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr11:85664400-85726800	Strong transcription	Liver	Liver
5	chr11:85664400-85729000	Strong transcription	Placenta	Placenta
6	chr11:85664600-85730800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:85664800-85733000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:85665200-85742600	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr11:85665200-85743000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:85665400-85699800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr11:85665800-85699600	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr11:85665800-85701200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr11:85665800-85711400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:85666000-85735800	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr11:85667800-85701800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:85667800-85712000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr11:85670000-85715800	Weak transcription	Colonic Mucosa	Colon
18	chr11:85671800-85710600	Weak transcription	Psoas Muscle	Psoas
19	chr11:85673200-85702800	Weak transcription	Small Intestine	intestine
20	chr11:85674000-85695200	Strong transcription	HSMM	muscle
21	chr11:85674000-85708600	Strong transcription	K562	blood
22	chr11:85674200-85715400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:85675000-85742600	Strong transcription	Primary B cells from peripheral blood	blood
24	chr11:85675200-85700000	Strong transcription	GM12878-XiMat	blood
25	chr11:85677800-85709600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:85679800-85697000	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr11:85680600-85731600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:85680800-85708400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:85680800-85714400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:85680800-85725600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:85681000-85694600	Strong transcription	NHDF-Ad	bronchial
32	chr11:85681000-85701800	Strong transcription	Duodenum Mucosa	Duodenum
33	chr11:85681000-85725800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:85681000-85729400	Strong transcription	NH-A	brain
35	chr11:85681200-85696200	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr11:85681200-85699600	Weak transcription	Fetal Heart	heart
37	chr11:85681400-85695200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:85681800-85694800	Strong transcription	Dnd41	blood
39	chr11:85683000-85708200	Weak transcription	Esophagus	oesophagus
40	chr11:85683400-85708800	Weak transcription	Gastric	stomach
41	chr11:85683400-85708800	Weak transcription	Spleen	Spleen
42	chr11:85683600-85703000	Weak transcription	Aorta	Aorta
43	chr11:85685600-85698400	Strong transcription	HMEC	breast
44	chr11:85685800-85701600	Strong transcription	Hela-S3	cervix
45	chr11:85686000-85696600	Strong transcription	Osteobl	bone
46	chr11:85688400-85694400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr11:85689200-85695600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr11:85689200-85710600	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr11:85689400-85694600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:85689400-85695600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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