Variant report

Variant	rs12786616
Chromosome Location	chr11:108535218-108535219
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	ATF2	chr11:108535209-108536070	GM12878	blood:	n/a	n/a
2	RFX5	chr11:108534678-108536222	SK-N-SH	brain:	n/a	chr11:108535560-108535575 chr11:108535560-108535575 chr11:108535560-108535575 chr11:108535559-108535576
3	CREB1	chr11:108535116-108536083	K562	blood:	n/a	chr11:108535554-108535567 chr11:108535721-108535734
4	CBX3	chr11:108535089-108535983	K562	blood:	n/a	n/a
5	CREB1	chr11:108535173-108536049	HepG2	liver:	n/a	chr11:108535554-108535567 chr11:108535721-108535734
6	REST	chr11:108535155-108536407	H1-neurons	neurons:	n/a	chr11:108536223-108536241
7	ATF2	chr11:108535206-108535879	GM12878	blood:	n/a	n/a
8	MXI1	chr11:108535055-108536959	SK-N-SH	brain:	n/a	chr11:108535559-108535574
9	MXI1	chr11:108535100-108536580	IMR90	lung:	n/a	chr11:108535559-108535574
10	MAZ	chr11:108535180-108536087	IMR90	lung:	n/a	n/a
11	MAX	chr11:108535155-108536533	HCT-116	colon:	n/a	n/a
12	MYC	chr11:108535195-108536039	A549	lung:	n/a	n/a
13	FOXA1	chr11:108535209-108535809	HepG2	liver:	n/a	n/a
14	JUND	chr11:108535052-108536525	SK-N-SH	brain:	n/a	chr11:108535701-108535710 chr11:108535556-108535565 chr11:108535723-108535732
15	TBL1XR1	chr11:108535208-108535901	K562	blood:	n/a	n/a
16	NR2F2	chr11:108535204-108536164	K562	blood:	n/a	n/a
17	HCFC1	chr11:108535178-108536216	Hela-S3	cervix:	n/a	n/a
18	FOXM1	chr11:108535168-108536032	GM12878	blood:	n/a	n/a
19	JUND	chr11:108535164-108536050	GM12878	blood:	n/a	chr11:108535701-108535710 chr11:108535556-108535565 chr11:108535723-108535732
20	JUN	chr11:108535033-108536330	K562	blood:	n/a	chr11:108535701-108535710 chr11:108535556-108535565 chr11:108535723-108535732 chr11:108535555-108535568
21	MXI1	chr11:108535216-108536652	GM12878	blood:	n/a	chr11:108535559-108535574
22	CREB1	chr11:108535190-108536015	H1-hESC	embryonic stem cell:	n/a	chr11:108535554-108535567 chr11:108535721-108535734
23	MAX	chr11:108535203-108536352	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:108093199..108095517-chr11:108534185..108536757,3	K562	blood:
2	chr11:108530913..108533516-chr11:108533867..108535585,2	MCF-7	breast:
3	chr11:108093199..108095517-chr11:108534185..108536757,4	K562	blood:

Variant related genes	Relation type
DDX10	TF binding region
ENSG00000149308	Chromatin interaction
ENSG00000149311	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10749924	0.96[ASN][1000 genomes]
rs10749925	0.96[ASN][1000 genomes]
rs11828110	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12574567	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12574721	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12577382	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12577980	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12785439	0.83[ASN][1000 genomes]
rs12790940	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12794048	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12795663	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12800516	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12800726	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12801974	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12802313	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12803616	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12808060	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1462787	0.85[ASN][1000 genomes]
rs1482268	0.94[ASN][1000 genomes]
rs17108571	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17108579	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17108608	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17108703	0.82[EUR][1000 genomes]
rs2061681	0.83[ASN][1000 genomes]
rs2615727	0.82[ASN][1000 genomes]
rs2726885	0.85[ASN][1000 genomes]
rs28736339	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34138098	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34180595	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34350110	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34354308	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34451436	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34805458	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34848528	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34942750	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35085871	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35244070	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35430545	0.81[ASN][1000 genomes]
rs35525430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35754206	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35777838	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36034048	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs36043878	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57014838	0.81[AMR][1000 genomes]
rs57484308	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7107825	0.90[ASN][1000 genomes]
rs71489913	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71489916	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71489918	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71489919	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71489922	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71489925	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs898972	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs970162	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs970164	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv898387	chr11:108440814-108535792	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv898388	chr11:108440814-108724639	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv832264	chr11:108449613-108623720	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108535000-108535400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr11:108535000-108535400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr11:108535000-108535400	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr11:108535000-108535400	Flanking Active TSS	Brain Substantia Nigra	brain
5	chr11:108535000-108535400	Enhancers	Lung	lung
6	chr11:108535000-108535400	Enhancers	Pancreas	Pancrea
7	chr11:108535000-108535400	Enhancers	Placenta Amnion	Placenta Amnion
8	chr11:108535000-108535400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr11:108535000-108535400	Flanking Active TSS	HepG2	liver
10	chr11:108535000-108535600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:108535000-108536200	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr11:108535000-108536400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:108535000-108536400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:108535000-108536400	Active TSS	Brain Anterior Caudate	brain
15	chr11:108535000-108536400	Active TSS	Brain Hippocampus Middle	brain
16	chr11:108535000-108536400	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr11:108535000-108536400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:108535000-108536400	Active TSS	Colon Smooth Muscle	Colon
19	chr11:108535000-108536400	Active TSS	Duodenum Mucosa	Duodenum
20	chr11:108535000-108536400	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr11:108535000-108536400	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr11:108535000-108536400	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr11:108535000-108536400	Active TSS	Rectal Smooth Muscle	rectum
24	chr11:108535000-108536400	Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr11:108535000-108536400	Active TSS	Stomach Smooth Muscle	stomach
26	chr11:108535200-108535400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
27	chr11:108535200-108535400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr11:108535200-108535400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr11:108535200-108535400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr11:108535200-108535400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr11:108535200-108535400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:108535200-108535400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr11:108535200-108535400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr11:108535200-108535400	Flanking Active TSS	Fetal Intestine Large	intestine
35	chr11:108535200-108535400	Flanking Active TSS	Fetal Thymus	thymus
36	chr11:108535200-108535400	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr11:108535200-108535400	Flanking Active TSS	Thymus	Thymus
38	chr11:108535200-108535400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr11:108535200-108535600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr11:108535200-108535600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:108535200-108535600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr11:108535200-108535600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr11:108535200-108535600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr11:108535200-108535600	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr11:108535200-108535600	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr11:108535200-108535600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
47	chr11:108535200-108535600	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr11:108535200-108535600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr11:108535200-108535600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr11:108535200-108535600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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