Variant report

Variant	rs10160497
Chromosome Location	chr11:45376739-45376740
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	ELF1	chr11:45376477-45377365	MCF-7	breast:	n/a	chr11:45377057-45377068 chr11:45376993-45377002 chr11:45376992-45377003 chr11:45376992-45377001 chr11:45376992-45377003
2	SIN3A	chr11:45376681-45377387	H1-hESC	embryonic stem cell:	n/a	n/a
3	GABPA	chr11:45376351-45377587	MCF-7	breast:	n/a	n/a
4	POLR2A	chr11:45376535-45377311	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr11:45376667-45377203	GM12892	blood:	n/a	n/a
6	YY1	chr11:45376687-45377121	A549	lung:	n/a	chr11:45376957-45376965 chr11:45376958-45376968 chr11:45376951-45376970 chr11:45376946-45376968
7	YY1	chr11:45376736-45377156	K562	blood:	n/a	chr11:45376957-45376965 chr11:45376958-45376968 chr11:45376951-45376970 chr11:45376946-45376968
8	YY1	chr11:45376485-45377283	H1-hESC	embryonic stem cell:	n/a	chr11:45376957-45376965 chr11:45376958-45376968 chr11:45376951-45376970 chr11:45376946-45376968
9	HCFC1	chr11:45376728-45377324	K562	blood:	n/a	n/a
10	YY1	chr11:45376692-45377282	K562	blood:	n/a	chr11:45376957-45376965 chr11:45376958-45376968 chr11:45376951-45376970 chr11:45376946-45376968
11	GABPA	chr11:45376685-45377274	HL-60	blood:	n/a	n/a
12	SIX5	chr11:45376713-45377168	H1-hESC	embryonic stem cell:	n/a	n/a
13	REST	chr11:45376377-45377817	H1-neurons	neurons:	n/a	chr11:45377454-45377467
14	YY1	chr11:45376567-45377223	K562	blood:	n/a	chr11:45376957-45376965 chr11:45376958-45376968 chr11:45376951-45376970 chr11:45376946-45376968
15	GABPA	chr11:45376634-45377308	MCF-7	breast:	n/a	n/a
16	POLR2A	chr11:45376573-45377453	SK-N-MC	brain:	n/a	n/a
17	TCF12	chr11:45376659-45377310	A549	lung:	n/a	n/a
18	GABPA	chr11:45376590-45377413	SK-N-SH	brain:	n/a	n/a
19	YY1	chr11:45376358-45377391	H1-hESC	embryonic stem cell:	n/a	chr11:45376957-45376965 chr11:45376958-45376968 chr11:45376951-45376970 chr11:45376946-45376968
20	POLR2A	chr11:45376704-45377166	GM12878	blood:	n/a	n/a
21	POLR2A	chr11:45376634-45377403	H1-neurons	neurons:	n/a	n/a
22	MAZ	chr11:45376675-45376752	GM12878	blood:	n/a	n/a
23	YY1	chr11:45376595-45377276	SK-N-SH	brain:	n/a	chr11:45376957-45376965 chr11:45376958-45376968 chr11:45376951-45376970 chr11:45376946-45376968
24	YY1	chr11:45376481-45377198	NT2-D1	testis:	n/a	chr11:45376957-45376965 chr11:45376958-45376968 chr11:45376951-45376970 chr11:45376946-45376968
25	ELF1	chr11:45376631-45377271	GM12878	blood:	n/a	chr11:45377057-45377068 chr11:45376993-45377002 chr11:45376992-45377003 chr11:45376992-45377001 chr11:45376992-45377003
26	MAX	chr11:45376714-45377283	H1-hESC	embryonic stem cell:	n/a	chr11:45377159-45377169
27	ELF1	chr11:45376653-45377216	SK-N-SH	brain:	n/a	chr11:45377057-45377068 chr11:45376993-45377002 chr11:45376992-45377003 chr11:45376992-45377001 chr11:45376992-45377003
28	ELF1	chr11:45376732-45377298	GM12878	blood:	n/a	chr11:45377057-45377068 chr11:45376993-45377002 chr11:45376992-45377003 chr11:45376992-45377001 chr11:45376992-45377003
29	YY1	chr11:45376518-45377499	SK-N-SH	brain:	n/a	chr11:45376957-45376965 chr11:45376958-45376968 chr11:45376951-45376970 chr11:45376946-45376968
30	ELF1	chr11:45376606-45377248	K562	blood:	n/a	chr11:45377057-45377068 chr11:45376993-45377002 chr11:45376992-45377003 chr11:45376992-45377001 chr11:45376992-45377003
31	NFIC	chr11:45376710-45377236	SK-N-SH	brain:	n/a	n/a
32	ELF1	chr11:45376614-45377277	MCF-7	breast:	n/a	chr11:45377057-45377068 chr11:45376993-45377002 chr11:45376992-45377003 chr11:45376992-45377001 chr11:45376992-45377003
33	ATF2	chr11:45376601-45377233	H1-hESC	embryonic stem cell:	n/a	n/a
34	GABPA	chr11:45376626-45377321	SK-N-SH	brain:	n/a	n/a
35	YY1	chr11:45376625-45377182	GM12892	blood:	n/a	chr11:45376957-45376965 chr11:45376958-45376968 chr11:45376951-45376970 chr11:45376946-45376968
36	CBX3	chr11:45376733-45377236	K562	blood:	n/a	n/a
37	YY1	chr11:45376520-45377194	SK-N-SH_RA	brain:	n/a	chr11:45376957-45376965 chr11:45376958-45376968 chr11:45376951-45376970 chr11:45376946-45376968
38	GTF2F1	chr11:45376667-45377195	H1-hESC	embryonic stem cell:	n/a	n/a
39	YY1	chr11:45376567-45377189	SK-N-SH_RA	brain:	n/a	chr11:45376957-45376965 chr11:45376958-45376968 chr11:45376951-45376970 chr11:45376946-45376968
40	CREB1	chr11:45376655-45377356	K562	blood:	n/a	n/a
41	ELF1	chr11:45376585-45377304	SK-N-SH	brain:	n/a	chr11:45377057-45377068 chr11:45376993-45377002 chr11:45376992-45377003 chr11:45376992-45377001 chr11:45376992-45377003
42	POLR2A	chr11:45376696-45377397	Raji	blood:	n/a	n/a
43	POLR2A	chr11:45376708-45377262	HL-60	blood:	n/a	n/a
44	TEAD4	chr11:45376738-45377195	K562	blood:	n/a	n/a
45	GABPA	chr11:45376726-45377243	H1-hESC	embryonic stem cell:	n/a	n/a
46	GABPA	chr11:45376643-45377333	HL-60	blood:	n/a	n/a
47	GABPA	chr11:45376628-45377311	A549	lung:	n/a	n/a
48	GABPA	chr11:45376565-45377413	A549	lung:	n/a	n/a
49	EGR1	chr11:45376693-45377191	H1-hESC	embryonic stem cell:	n/a	n/a
50	YY1	chr11:45376546-45377212	A549	lung:	n/a	chr11:45376957-45376965 chr11:45376958-45376968 chr11:45376951-45376970 chr11:45376946-45376968

Variant related genes	Relation type
ENSG00000254427	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10160327	1.00[AFR][1000 genomes]
rs10160519	1.00[AFR][1000 genomes]
rs10160836	1.00[AFR][1000 genomes]
rs10838454	0.86[AFR][1000 genomes]
rs10838455	0.86[AFR][1000 genomes]
rs11038407	1.00[AFR][1000 genomes]
rs12271093	1.00[AFR][1000 genomes]
rs12271267	1.00[AFR][1000 genomes]
rs12271361	1.00[AFR][1000 genomes]
rs12271364	1.00[AFR][1000 genomes]
rs12277014	1.00[AFR][1000 genomes]
rs12278158	1.00[AFR][1000 genomes]
rs12278979	1.00[AFR][1000 genomes]
rs12280437	0.81[AFR][1000 genomes]
rs12282645	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12282717	1.00[AFR][1000 genomes]
rs12282865	1.00[AFR][1000 genomes]
rs12282869	1.00[AFR][1000 genomes]
rs12283673	1.00[AFR][1000 genomes]
rs12283785	1.00[AFR][1000 genomes]
rs12285665	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs12285949	1.00[AFR][1000 genomes]
rs12287647	1.00[AFR][1000 genomes]
rs12289376	1.00[AFR][1000 genomes]
rs12289623	1.00[AFR][1000 genomes]
rs12292096	1.00[AFR][1000 genomes]
rs12292231	1.00[AFR][1000 genomes]
rs73454104	1.00[AFR][1000 genomes]
rs73454105	1.00[AFR][1000 genomes]
rs73454107	1.00[AFR][1000 genomes]
rs73454109	1.00[AFR][1000 genomes]
rs73454110	1.00[AFR][1000 genomes]
rs73454120	1.00[AFR][1000 genomes]
rs73454122	1.00[AFR][1000 genomes]
rs73454123	1.00[AFR][1000 genomes]
rs73454125	1.00[AFR][1000 genomes]
rs73454127	1.00[AFR][1000 genomes]
rs73454141	0.93[AFR][1000 genomes]
rs73454155	0.86[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530619	chr11:45294176-45553928	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45375000-45376800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr11:45375400-45377000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:45376000-45376800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr11:45376200-45376800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:45376200-45376800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr11:45376200-45377400	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr11:45376200-45377400	Active TSS	Colon Smooth Muscle	Colon
8	chr11:45376400-45376800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr11:45376400-45376800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr11:45376400-45376800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
11	chr11:45376400-45376800	Enhancers	Primary B cells from peripheral blood	blood
12	chr11:45376400-45376800	Enhancers	Primary T cells fromperipheralblood	blood
13	chr11:45376400-45376800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:45376400-45376800	Active TSS	Adipose Nuclei	Adipose
15	chr11:45376400-45376800	Flanking Active TSS	Brain Germinal Matrix	brain
16	chr11:45376400-45377000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:45376400-45377200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr11:45376400-45377200	Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr11:45376400-45377400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:45376400-45377400	Active TSS	Stomach Mucosa	stomach
21	chr11:45376400-45377600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr11:45376400-45377600	Active TSS	A549	lung
23	chr11:45376600-45376800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr11:45376600-45376800	Enhancers	H9 Cell Line	embryonic stem cell
25	chr11:45376600-45376800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:45376600-45376800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr11:45376600-45376800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr11:45376600-45376800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr11:45376600-45376800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr11:45376600-45376800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr11:45376600-45376800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr11:45376600-45376800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:45376600-45376800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:45376600-45376800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:45376600-45376800	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr11:45376600-45376800	Flanking Active TSS	Brain Substantia Nigra	brain
37	chr11:45376600-45376800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr11:45376600-45376800	Flanking Active TSS	Fetal Brain Female	brain
39	chr11:45376600-45376800	Enhancers	Fetal Lung	lung
40	chr11:45376600-45376800	Enhancers	Fetal Thymus	thymus
41	chr11:45376600-45376800	Flanking Active TSS	Left Ventricle	heart
42	chr11:45376600-45376800	Active TSS	Psoas Muscle	Psoas
43	chr11:45376600-45376800	Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr11:45376600-45376800	Enhancers	Thymus	Thymus
45	chr11:45376600-45376800	Enhancers	K562	blood
46	chr11:45376600-45377000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr11:45376600-45377000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr11:45376600-45377000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
49	chr11:45376600-45377000	Enhancers	Primary B cells from cord blood	blood
50	chr11:45376600-45377000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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