Variant report

Variant	rs11596406
Chromosome Location	chr10:5726253-5726254
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	KAP1	chr10:5726082-5726711	U2OS	brain:	n/a	n/a
2	IRF1	chr10:5726088-5727003	K562	blood:	n/a	chr10:5726740-5726753 chr10:5726745-5726756 chr10:5726740-5726751 chr10:5726740-5726753 chr10:5726741-5726755 chr10:5726737-5726751 chr10:5726743-5726757 chr10:5726741-5726751 chr10:5726740-5726754 chr10:5726739-5726759
3	HCFC1	chr10:5725796-5727904	Hela-S3	cervix:	n/a	n/a
4	GTF2F1	chr10:5726187-5726871	K562	blood:	n/a	n/a
5	ZBTB33	chr10:5726116-5727077	SK-N-SH	brain:	n/a	chr10:5726791-5726798
6	NR2F2	chr10:5726164-5726733	K562	blood:	n/a	n/a
7	SETDB1	chr10:5726216-5727578	K562	blood:	n/a	chr10:5726676-5726685
8	FOXM1	chr10:5726152-5727856	GM12878	blood:	n/a	n/a
9	RCOR1	chr10:5726122-5726850	GM12878	blood:	n/a	n/a
10	TEAD4	chr10:5726028-5726684	HepG2	liver:	n/a	n/a
11	IRF1	chr10:5726198-5728754	K562	blood:	n/a	chr10:5726740-5726753 chr10:5726745-5726756 chr10:5726740-5726751 chr10:5726740-5726753 chr10:5726741-5726755 chr10:5726737-5726751 chr10:5726743-5726757 chr10:5726741-5726751 chr10:5726740-5726754 chr10:5726739-5726759
12	SIN3AK20	chr10:5726083-5727962	MCF-7	breast:	n/a	n/a
13	MAX	chr10:5726245-5727812	Hela-S3	cervix:	n/a	chr10:5726467-5726478 chr10:5726759-5726769 chr10:5726468-5726477 chr10:5726468-5726478 chr10:5726467-5726478 chr10:5726466-5726479 chr10:5726467-5726476 chr10:5726464-5726479 chr10:5726468-5726478 chr10:5726470-5726479 chr10:5726467-5726477
14	MYC	chr10:5726159-5727824	K562	blood:	n/a	chr10:5726467-5726478 chr10:5726759-5726769 chr10:5726468-5726477 chr10:5726468-5726478 chr10:5726467-5726478 chr10:5726466-5726479 chr10:5726467-5726476 chr10:5726464-5726479 chr10:5726468-5726478 chr10:5726470-5726479 chr10:5726467-5726477
15	ZBTB33	chr10:5726227-5726886	HCT-116	colon:	n/a	chr10:5726791-5726798
16	MYC	chr10:5726180-5727874	NB4	blood:	n/a	chr10:5726467-5726478 chr10:5726759-5726769 chr10:5726468-5726477 chr10:5726468-5726478 chr10:5726467-5726478 chr10:5726466-5726479 chr10:5726467-5726476 chr10:5726464-5726479 chr10:5726468-5726478 chr10:5726470-5726479 chr10:5726467-5726477
17	E2F6	chr10:5726116-5726700	K562	blood:	n/a	chr10:5726676-5726685 chr10:5726624-5726633 chr10:5726449-5726463 chr10:5726512-5726523
18	USF2	chr10:5726061-5726767	Hela-S3	cervix:	n/a	chr10:5726466-5726477
19	POLR2A	chr10:5726015-5727753	GM18951	blood:	n/a	n/a
20	TEAD4	chr10:5726181-5726921	K562	blood:	n/a	n/a
21	E2F6	chr10:5726245-5727479	K562	blood:	n/a	chr10:5726676-5726685 chr10:5726624-5726633 chr10:5726449-5726463 chr10:5726512-5726523
22	REST	chr10:5726044-5726917	A549	lung:	n/a	chr10:5726667-5726680 chr10:5726662-5726675 chr10:5726419-5726429
23	MAX	chr10:5725920-5727744	A549	lung:	n/a	chr10:5726467-5726478 chr10:5726759-5726769 chr10:5726468-5726477 chr10:5726468-5726478 chr10:5726467-5726478 chr10:5726466-5726479 chr10:5726467-5726476 chr10:5726464-5726479 chr10:5726468-5726478 chr10:5726470-5726479 chr10:5726467-5726477
24	HA-E2F1	chr10:5726188-5727840	MCF-7	breast:	n/a	chr10:5726676-5726685 chr10:5726624-5726633 chr10:5726449-5726463
25	MXI1	chr10:5726096-5728151	K562	blood:	n/a	chr10:5726467-5726476 chr10:5726469-5726478
26	EP300	chr10:5726124-5726889	GM12878	blood:	n/a	chr10:5726742-5726756
27	MTA3	chr10:5725921-5726749	GM12878	blood:	n/a	n/a
28	MAX	chr10:5726215-5727728	K562	blood:	n/a	chr10:5726467-5726478 chr10:5726759-5726769 chr10:5726468-5726477 chr10:5726468-5726478 chr10:5726467-5726478 chr10:5726466-5726479 chr10:5726467-5726476 chr10:5726464-5726479 chr10:5726468-5726478 chr10:5726470-5726479 chr10:5726467-5726477
29	MBD4	chr10:5726167-5726751	HepG2	liver:	n/a	n/a
30	PML	chr10:5726160-5727741	GM12878	blood:	n/a	chr10:5727305-5727314
31	MYC	chr10:5725872-5727992	A549	lung:	n/a	chr10:5726467-5726478 chr10:5726759-5726769 chr10:5726468-5726477 chr10:5726468-5726478 chr10:5726467-5726478 chr10:5726466-5726479 chr10:5726467-5726476 chr10:5726464-5726479 chr10:5726468-5726478 chr10:5726470-5726479 chr10:5726467-5726477
32	GABPA	chr10:5726011-5727657	A549	lung:	n/a	chr10:5726623-5726637 chr10:5726625-5726634 chr10:5726620-5726634 chr10:5726675-5726686 chr10:5726623-5726634 chr10:5726672-5726686
33	POLR2A	chr10:5726197-5727699	MCF-7	breast:	n/a	n/a
34	POLR2A	chr10:5726242-5727591	GM12891	blood:	n/a	n/a
35	CBX3	chr10:5726145-5726722	K562	blood:	n/a	n/a
36	GABPA	chr10:5726231-5727067	SK-N-SH	brain:	n/a	chr10:5726623-5726637 chr10:5726625-5726634 chr10:5726620-5726634 chr10:5726675-5726686 chr10:5726623-5726634 chr10:5726672-5726686
37	MAX	chr10:5725964-5727874	MCF-7	breast:	n/a	chr10:5726467-5726478 chr10:5726759-5726769 chr10:5726468-5726477 chr10:5726468-5726478 chr10:5726467-5726478 chr10:5726466-5726479 chr10:5726467-5726476 chr10:5726464-5726479 chr10:5726468-5726478 chr10:5726470-5726479 chr10:5726467-5726477
38	MBD4	chr10:5726161-5726718	HepG2	liver:	n/a	n/a
39	MAX	chr10:5725978-5727900	A549	lung:	n/a	chr10:5726467-5726478 chr10:5726759-5726769 chr10:5726468-5726477 chr10:5726468-5726478 chr10:5726467-5726478 chr10:5726466-5726479 chr10:5726467-5726476 chr10:5726464-5726479 chr10:5726468-5726478 chr10:5726470-5726479 chr10:5726467-5726477
40	TBL1XR1	chr10:5725991-5726859	K562	blood:	n/a	n/a
41	USF1	chr10:5726250-5726689	K562	blood:	n/a	n/a
42	MYBL2	chr10:5726103-5726989	HepG2	liver:	n/a	n/a
43	ZBTB33	chr10:5726253-5726736	GM12878	blood:	n/a	n/a
44	KAP1	chr10:5726097-5726538	K562	blood:	n/a	n/a
45	JUN	chr10:5725862-5728639	K562	blood:	n/a	chr10:5727307-5727315 chr10:5727306-5727316 chr10:5727308-5727319 chr10:5727307-5727314 chr10:5727305-5727317
46	MXI1	chr10:5726171-5728662	GM12878	blood:	n/a	chr10:5726467-5726476 chr10:5726469-5726478
47	POLR2A	chr10:5726230-5727699	MCF-7	breast:	n/a	n/a
48	GATA3	chr10:5726101-5727189	A549	lung:	n/a	chr10:5726776-5726786
49	EP300	chr10:5726209-5726971	GM12878	blood:	n/a	chr10:5726742-5726756
50	MAX	chr10:5726099-5727746	H1-hESC	embryonic stem cell:	n/a	chr10:5726467-5726478 chr10:5726759-5726769 chr10:5726468-5726477 chr10:5726468-5726478 chr10:5726467-5726478 chr10:5726466-5726479 chr10:5726467-5726476 chr10:5726464-5726479 chr10:5726468-5726478 chr10:5726470-5726479 chr10:5726467-5726477

No.	Distal block	Cell Line	Cell type
1	chr10:5487811..5491565-chr10:5724124..5727399,4	K562	blood:
2	chr10:5486978..5493668-chr10:5725151..5730020,10	MCF-7	breast:
3	chr10:5673035..5675364-chr10:5725053..5728516,4	MCF-7	breast:
4	chr10:5487109..5491565-chr10:5723765..5727399,5	K562	blood:
5	chr10:5673292..5677112-chr10:5724421..5727333,4	K562	blood:
6	chr10:5725239..5726746-chr10:5852889..5855526,2	K562	blood:
7	chr10:5725239..5729489-chr10:5854026..5858186,8	K562	blood:
8	chr10:5674655..5677112-chr10:5724421..5726297,2	K562	blood:
9	chr10:5725582..5728827-chr10:5752793..5758658,6	MCF-7	breast:
10	chr10:5725704..5728346-chr3:33480193..33482855,3	MCF-7	breast:
11	chr10:5706894..5712025-chr10:5724987..5728504,7	MCF-7	breast:
12	chr10:5725559..5728313-chr10:5930802..5933492,3	K562	blood:
13	chr10:5724274..5728540-chr10:5734829..5741563,8	MCF-7	breast:
14	chr10:5725503..5729426-chr10:5853777..5860412,5	MCF-7	breast:
15	chr10:5725427..5729550-chr10:5853446..5856157,4	MCF-7	breast:
16	chr10:5704788..5710194-chr10:5724908..5728833,8	K562	blood:
17	chr10:5725094..5729377-chr10:5927689..5933777,6	MCF-7	breast:

Variant related genes	Relation type
FAM208B	TF binding region
ENSG00000196372	Chromatin interaction
ENSG00000057608	Chromatin interaction
ENSG00000108021	Chromatin interaction
ENSG00000226647	Chromatin interaction
ENSG00000134461	Chromatin interaction
ENSG00000240577	Chromatin interaction
ENSG00000153560	Chromatin interaction
ENSG00000134452	Chromatin interaction
ENSG00000272764	Chromatin interaction
ENSG00000173848	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1418739	1.00[JPT][hapmap]
rs9423934	1.00[JPT][hapmap]
rs9423946	1.00[JPT][hapmap]

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	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats 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	68 gene(s)	inside rSNPs	diseases
2	esv2759729	chr10:5557024-5804780	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	esv2758209	chr10:5637111-5804780	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer 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	24 gene(s)	inside rSNPs	diseases
4	nsv549895	chr10:5712310-5735648	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv1796213	chr10:5716555-5766165	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv522415	chr10:5721653-5768493	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer 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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5725800-5726400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
2	chr10:5725800-5726600	Flanking Active TSS	Dnd41	blood
3	chr10:5726000-5726400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr10:5726000-5726400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr10:5726000-5726400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
6	chr10:5726000-5726400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr10:5726000-5726400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr10:5726000-5726400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
9	chr10:5726000-5726400	Flanking Active TSS	Brain Anterior Caudate	brain
10	chr10:5726000-5726400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
11	chr10:5726000-5726400	Flanking Active TSS	Colon Smooth Muscle	Colon
12	chr10:5726000-5726400	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr10:5726000-5726400	Flanking Active TSS	Fetal Brain Male	brain
14	chr10:5726000-5726400	Flanking Active TSS	Fetal Heart	heart
15	chr10:5726000-5726400	Flanking Active TSS	Fetal Kidney	kidney
16	chr10:5726000-5726400	Flanking Active TSS	Fetal Lung	lung
17	chr10:5726000-5726400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
18	chr10:5726000-5726400	Flanking Active TSS	Rectal Smooth Muscle	rectum
19	chr10:5726000-5726400	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr10:5726000-5726400	Flanking Active TSS	Thymus	Thymus
21	chr10:5726000-5726400	Enhancers	Spleen	Spleen
22	chr10:5726000-5726400	Enhancers	HepG2	liver
23	chr10:5726000-5726400	Flanking Active TSS	Osteobl	bone
24	chr10:5726000-5726600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr10:5726000-5726600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr10:5726000-5726600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr10:5726000-5726600	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr10:5726000-5726600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr10:5726000-5726600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr10:5726000-5726600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr10:5726000-5726600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr10:5726000-5726600	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr10:5726000-5726600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr10:5726000-5726600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr10:5726000-5726600	Flanking Active TSS	GM12878-XiMat	blood
36	chr10:5726000-5726600	Flanking Active TSS	K562	blood
37	chr10:5726000-5726600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr10:5726000-5726600	Flanking Active TSS	NHDF-Ad	bronchial
39	chr10:5726000-5727600	Active TSS	Brain Cingulate Gyrus	brain
40	chr10:5726000-5727800	Active TSS	Brain Hippocampus Middle	brain
41	chr10:5726000-5727800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr10:5726000-5727800	Active TSS	Brain Substantia Nigra	brain
43	chr10:5726000-5728000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr10:5726000-5728000	Active TSS	Brain Angular Gyrus	brain
45	chr10:5726000-5728000	Active TSS	Rectal Mucosa Donor 31	rectum
46	chr10:5726000-5728600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr10:5726000-5728800	Active TSS	A549	lung
48	chr10:5726200-5726400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr10:5726200-5726400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr10:5726200-5726400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell

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