Variant report

Variant	rs61625484
Chromosome Location	chr11:62285665-62285666
allele	A/C/G/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	chr11:62284678-62286131	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr11:62285241-62286046	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr11:62285460-62286232	U87	brain:	n/a	n/a
4	POLR2A	chr11:62282836-62288249	U87	brain:	n/a	n/a
5	POLR2A	chr11:62279462-62304472	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr11:62282830-62289046	U87	brain:	n/a	n/a
7	POLR2A	chr11:62280310-62302884	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr11:62285472-62286549	HepG2	liver:	n/a	n/a
9	POLR2A	chr11:62285559-62286147	A549	lung:	n/a	n/a
10	POLR2A	chr11:62285506-62286232	U87	brain:	n/a	n/a
11	TCF7L2	chr11:62285142-62285974	PANC-1	pancreas:	n/a	n/a

Variant related genes	Relation type
AHNAK	TF binding region

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11231121	0.81[EUR][1000 genomes]
rs11231128	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231130	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12281588	0.89[EUR][1000 genomes]
rs12281651	0.94[EUR][1000 genomes]
rs12291805	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12292433	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17157365	0.81[EUR][1000 genomes]
rs56234858	0.81[EUR][1000 genomes]
rs61312994	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7108380	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7123692	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7124130	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127582	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7937521	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7951639	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv832180	chr11:62201605-62364828	Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
5	nsv897621	chr11:62230309-62290170	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	esv3584599	chr11:62262742-62398050	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
7	esv1801128	chr11:62276347-62329897	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
8	esv1831183	chr11:62276347-62329897	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62276400-62290800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr11:62276400-62298600	Weak transcription	Pancreas	Pancrea
3	chr11:62276600-62286000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr11:62276600-62290600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:62276600-62290800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:62276600-62292000	Weak transcription	Fetal Kidney	kidney
7	chr11:62276600-62299600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:62276600-62301200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr11:62276800-62285800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:62276800-62298600	Weak transcription	Brain Substantia Nigra	brain
11	chr11:62276800-62298800	Weak transcription	Brain Anterior Caudate	brain
12	chr11:62277200-62285800	Weak transcription	Brain Hippocampus Middle	brain
13	chr11:62277200-62286600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:62277400-62286000	Weak transcription	Small Intestine	intestine
15	chr11:62277600-62303600	Strong transcription	Fetal Stomach	stomach
16	chr11:62279600-62296200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr11:62281000-62304000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr11:62281000-62304800	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr11:62281200-62287800	Strong transcription	Spleen	Spleen
20	chr11:62281200-62303200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:62281200-62303400	Strong transcription	Gastric	stomach
22	chr11:62281200-62303800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr11:62281200-62304000	Strong transcription	Fetal Muscle Leg	muscle
24	chr11:62281200-62306200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:62281400-62303200	Strong transcription	Lung	lung
26	chr11:62281400-62305600	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr11:62281600-62285800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr11:62281600-62303400	Strong transcription	Fetal Intestine Small	intestine
29	chr11:62281600-62303600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:62281600-62306000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:62281800-62295200	Strong transcription	HSMMtube	muscle
32	chr11:62281800-62303600	Strong transcription	Muscle Satellite Cultured Cells	--
33	chr11:62281800-62303600	Strong transcription	Duodenum Mucosa	Duodenum
34	chr11:62281800-62304200	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr11:62281800-62304400	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr11:62281800-62304400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr11:62281800-62304400	Strong transcription	Placenta	Placenta
38	chr11:62282000-62285800	Strong transcription	Esophagus	oesophagus
39	chr11:62282000-62291800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr11:62282000-62303400	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr11:62282000-62303600	Strong transcription	Fetal Muscle Trunk	muscle
42	chr11:62282000-62303600	Strong transcription	Osteobl	bone
43	chr11:62282000-62303800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:62282000-62304200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:62282000-62304400	Strong transcription	Primary B cells from peripheral blood	blood
46	chr11:62282000-62304800	Strong transcription	HSMM	muscle
47	chr11:62282000-62305400	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr11:62282200-62286000	Genic enhancers	Liver	Liver
49	chr11:62282400-62288400	Weak transcription	GM12878-XiMat	blood
50	chr11:62282400-62289000	Strong transcription	Placenta Amnion	Placenta Amnion

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