Variant report

Variant	rs10160502
Chromosome Location	chr11:45376816-45376817
allele	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	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	JUND	chr11:45376799-45377398	H1-hESC	embryonic stem cell:	n/a	n/a
3	NFIC	chr11:45376752-45377151	ECC-1	luminal epithelium:	n/a	n/a
4	FOXP2	chr11:45376804-45377143	SK-N-MC	brain:	n/a	n/a
5	YY1	chr11:45376740-45377220	GM12878	blood:	n/a	chr11:45376957-45376965 chr11:45376958-45376968 chr11:45376951-45376970 chr11:45376946-45376968
6	SETDB1	chr11:45376798-45377111	U2OS	brain:	n/a	n/a
7	SIN3A	chr11:45376681-45377387	H1-hESC	embryonic stem cell:	n/a	n/a
8	YY1	chr11:45376795-45377167	K562	blood:	n/a	chr11:45376957-45376965 chr11:45376958-45376968 chr11:45376951-45376970 chr11:45376946-45376968
9	GABPA	chr11:45376351-45377587	MCF-7	breast:	n/a	n/a
10	POLR2A	chr11:45376809-45377235	HL-60	blood:	n/a	n/a
11	TBP	chr11:45376816-45377170	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr11:45376535-45377311	H1-neurons	neurons:	n/a	n/a
13	SIX5	chr11:45376812-45377145	K562	blood:	n/a	n/a
14	POLR2A	chr11:45376781-45377233	SK-N-MC	brain:	n/a	n/a
15	POLR2A	chr11:45376667-45377203	GM12892	blood:	n/a	n/a
16	YY1	chr11:45376687-45377121	A549	lung:	n/a	chr11:45376957-45376965 chr11:45376958-45376968 chr11:45376951-45376970 chr11:45376946-45376968
17	RCOR1	chr11:45376771-45377180	K562	blood:	n/a	n/a
18	YY1	chr11:45376736-45377156	K562	blood:	n/a	chr11:45376957-45376965 chr11:45376958-45376968 chr11:45376951-45376970 chr11:45376946-45376968
19	YY1	chr11:45376485-45377283	H1-hESC	embryonic stem cell:	n/a	chr11:45376957-45376965 chr11:45376958-45376968 chr11:45376951-45376970 chr11:45376946-45376968
20	HCFC1	chr11:45376728-45377324	K562	blood:	n/a	n/a
21	SIX5	chr11:45376796-45377083	A549	lung:	n/a	n/a
22	ZNF143	chr11:45376788-45377199	H1-hESC	embryonic stem cell:	n/a	n/a
23	E2F6	chr11:45376785-45377297	H1-hESC	embryonic stem cell:	n/a	n/a
24	YY1	chr11:45376692-45377282	K562	blood:	n/a	chr11:45376957-45376965 chr11:45376958-45376968 chr11:45376951-45376970 chr11:45376946-45376968
25	CHD2	chr11:45376795-45377148	H1-hESC	embryonic stem cell:	n/a	n/a
26	GABPA	chr11:45376685-45377274	HL-60	blood:	n/a	n/a
27	SIX5	chr11:45376713-45377168	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr11:45376743-45377188	SK-N-SH	brain:	n/a	n/a
29	POLR2A	chr11:45376789-45377051	GM12891	blood:	n/a	n/a
30	REST	chr11:45376377-45377817	H1-neurons	neurons:	n/a	chr11:45377454-45377467
31	YY1	chr11:45376567-45377223	K562	blood:	n/a	chr11:45376957-45376965 chr11:45376958-45376968 chr11:45376951-45376970 chr11:45376946-45376968
32	CREB1	chr11:45376780-45377221	H1-hESC	embryonic stem cell:	n/a	n/a
33	GABPA	chr11:45376634-45377308	MCF-7	breast:	n/a	n/a
34	POLR2A	chr11:45376573-45377453	SK-N-MC	brain:	n/a	n/a
35	TCF12	chr11:45376659-45377310	A549	lung:	n/a	n/a
36	GABPA	chr11:45376590-45377413	SK-N-SH	brain:	n/a	n/a
37	GABPA	chr11:45376750-45377200	H1-hESC	embryonic stem cell:	n/a	n/a
38	YY1	chr11:45376358-45377391	H1-hESC	embryonic stem cell:	n/a	chr11:45376957-45376965 chr11:45376958-45376968 chr11:45376951-45376970 chr11:45376946-45376968
39	POLR2A	chr11:45376704-45377166	GM12878	blood:	n/a	n/a
40	YY1	chr11:45376774-45377190	GM12891	blood:	n/a	chr11:45376957-45376965 chr11:45376958-45376968 chr11:45376951-45376970 chr11:45376946-45376968
41	YY1	chr11:45376779-45377145	ECC-1	luminal epithelium:	n/a	chr11:45376957-45376965 chr11:45376958-45376968 chr11:45376951-45376970 chr11:45376946-45376968
42	POLR2A	chr11:45376634-45377403	H1-neurons	neurons:	n/a	n/a
43	GABPA	chr11:45376785-45377161	GM12878	blood:	n/a	n/a
44	GABPA	chr11:45376760-45377405	K562	blood:	n/a	n/a
45	MXI1	chr11:45376760-45377157	H1-hESC	embryonic stem cell:	n/a	n/a
46	YY1	chr11:45376595-45377276	SK-N-SH	brain:	n/a	chr11:45376957-45376965 chr11:45376958-45376968 chr11:45376951-45376970 chr11:45376946-45376968
47	YY1	chr11:45376481-45377198	NT2-D1	testis:	n/a	chr11:45376957-45376965 chr11:45376958-45376968 chr11:45376951-45376970 chr11:45376946-45376968
48	EGR1	chr11:45376781-45377314	H1-hESC	embryonic stem cell:	n/a	n/a
49	ELF1	chr11:45376631-45377271	GM12878	blood:	n/a	chr11:45377057-45377068 chr11:45376993-45377002 chr11:45376992-45377003 chr11:45376992-45377001 chr11:45376992-45377003
50	MAX	chr11:45376714-45377283	H1-hESC	embryonic stem cell:	n/a	chr11:45377159-45377169

Variant related genes	Relation type
ENSG00000254427	TF binding region

Extended variants
information (count: 124 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs10160472	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10160694	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10160834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10501315	0.88[EUR][1000 genomes]
rs10838454	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10838455	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10838479	0.88[EUR][1000 genomes]
rs11038403	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11038404	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038405	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038406	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11038409	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11038411	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11038417	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11038420	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11038423	1.00[EUR][1000 genomes]
rs11038424	1.00[EUR][1000 genomes]
rs11038426	1.00[EUR][1000 genomes]
rs11038427	1.00[EUR][1000 genomes]
rs11038429	0.97[EUR][1000 genomes]
rs11038431	0.93[EUR][1000 genomes]
rs11038432	0.93[EUR][1000 genomes]
rs11038433	0.93[EUR][1000 genomes]
rs11038434	0.91[EUR][1000 genomes]
rs11038435	0.91[EUR][1000 genomes]
rs11038437	0.91[EUR][1000 genomes]
rs11038442	0.91[EUR][1000 genomes]
rs11038443	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs11038444	0.91[EUR][1000 genomes]
rs11038450	0.90[EUR][1000 genomes]
rs11038451	0.90[EUR][1000 genomes]
rs11038455	0.90[EUR][1000 genomes]
rs11038456	0.90[EUR][1000 genomes]
rs11038457	0.90[EUR][1000 genomes]
rs11038458	0.90[EUR][1000 genomes]
rs11038459	0.88[EUR][1000 genomes]
rs11038461	0.86[EUR][1000 genomes]
rs11038462	0.90[EUR][1000 genomes]
rs11038465	0.90[EUR][1000 genomes]
rs11038466	0.90[EUR][1000 genomes]
rs11038467	0.90[EUR][1000 genomes]
rs11038469	0.90[EUR][1000 genomes]
rs11038471	0.88[EUR][1000 genomes]
rs11038472	0.86[EUR][1000 genomes]
rs11038473	0.90[EUR][1000 genomes]
rs11038474	0.90[EUR][1000 genomes]
rs11038475	0.90[EUR][1000 genomes]
rs11038477	0.90[EUR][1000 genomes]
rs11038479	0.90[EUR][1000 genomes]
rs11038481	0.90[EUR][1000 genomes]
rs11038482	0.90[EUR][1000 genomes]
rs11038483	0.88[EUR][1000 genomes]
rs11038485	0.86[EUR][1000 genomes]
rs11038486	0.88[EUR][1000 genomes]
rs11038487	0.88[EUR][1000 genomes]
rs11038491	0.83[EUR][1000 genomes]
rs11038492	0.88[EUR][1000 genomes]
rs11038493	0.88[EUR][1000 genomes]
rs11038494	0.88[EUR][1000 genomes]
rs11038495	0.88[EUR][1000 genomes]
rs11038496	0.88[EUR][1000 genomes]
rs11038497	0.88[EUR][1000 genomes]
rs11038498	0.88[EUR][1000 genomes]
rs11038522	1.00[CEU][hapmap]
rs11038525	0.87[CEU][hapmap]
rs11038528	0.87[CEU][hapmap]
rs1107209	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs11599949	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11599993	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11601006	1.00[EUR][1000 genomes]
rs11601410	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11604510	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12278000	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12360696	1.00[CEU][hapmap]
rs12361372	0.90[EUR][1000 genomes]
rs12363740	0.86[EUR][1000 genomes]
rs12364278	0.90[EUR][1000 genomes]
rs12364661	0.90[EUR][1000 genomes]
rs12365374	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12365430	0.90[EUR][1000 genomes]
rs12365455	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12365467	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12365982	0.88[EUR][1000 genomes]
rs12366014	1.00[CEU][hapmap]
rs1488668	0.88[EUR][1000 genomes]
rs1488669	0.88[EUR][1000 genomes]
rs1488670	0.88[EUR][1000 genomes]
rs17723819	0.90[EUR][1000 genomes]
rs17724032	0.88[EUR][1000 genomes]
rs17724086	0.88[EUR][1000 genomes]
rs17724240	0.87[CEU][hapmap];1.00[GIH][hapmap]
rs17785901	0.88[EUR][1000 genomes]
rs17786039	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs17786178	0.86[CEU][hapmap]
rs1844150	0.90[EUR][1000 genomes]
rs2044877	0.98[EUR][1000 genomes]
rs72893316	0.81[EUR][1000 genomes]
rs72897413	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72897414	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72897422	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72897428	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72897458	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72897475	0.93[EUR][1000 genomes]
rs72899452	0.81[EUR][1000 genomes]
rs72899480	0.91[EUR][1000 genomes]
rs72899488	0.90[EUR][1000 genomes]
rs72901403	0.90[EUR][1000 genomes]
rs72901422	0.90[EUR][1000 genomes]
rs72901426	0.90[EUR][1000 genomes]
rs72901447	0.90[EUR][1000 genomes]
rs72901450	0.90[EUR][1000 genomes]
rs72901459	0.90[EUR][1000 genomes]
rs72901500	0.90[EUR][1000 genomes]
rs72903035	0.90[EUR][1000 genomes]
rs72903086	0.90[EUR][1000 genomes]
rs72903094	0.90[EUR][1000 genomes]
rs72905021	0.88[EUR][1000 genomes]
rs72905025	0.88[EUR][1000 genomes]
rs72905092	0.88[EUR][1000 genomes]
rs72905093	0.88[EUR][1000 genomes]
rs72906922	0.88[EUR][1000 genomes]
rs72906947	0.85[EUR][1000 genomes]
rs971897	0.90[EUR][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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45375400-45377000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:45376200-45377400	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr11:45376200-45377400	Active TSS	Colon Smooth Muscle	Colon
4	chr11:45376400-45377000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:45376400-45377200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
6	chr11:45376400-45377200	Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr11:45376400-45377400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:45376400-45377400	Active TSS	Stomach Mucosa	stomach
9	chr11:45376400-45377600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr11:45376400-45377600	Active TSS	A549	lung
11	chr11:45376600-45377000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr11:45376600-45377000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:45376600-45377000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
14	chr11:45376600-45377000	Enhancers	Primary B cells from cord blood	blood
15	chr11:45376600-45377000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr11:45376600-45377000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr11:45376600-45377000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr11:45376600-45377000	Flanking Active TSS	Fetal Brain Male	brain
19	chr11:45376600-45377000	Flanking Active TSS	Fetal Heart	heart
20	chr11:45376600-45377000	Enhancers	Fetal Intestine Small	intestine
21	chr11:45376600-45377000	Flanking Active TSS	Fetal Stomach	stomach
22	chr11:45376600-45377200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:45376600-45377200	Active TSS	Muscle Satellite Cultured Cells	--
24	chr11:45376600-45377200	Active TSS	Brain Cingulate Gyrus	brain
25	chr11:45376600-45377200	Active TSS	Stomach Smooth Muscle	stomach
26	chr11:45376600-45377200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr11:45376600-45377400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:45376600-45377400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr11:45376600-45377400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:45376600-45377400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:45376600-45377400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:45376600-45377400	Active TSS	Brain Angular Gyrus	brain
33	chr11:45376600-45377400	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr11:45376600-45377400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:45376600-45377400	Active TSS	Duodenum Mucosa	Duodenum
36	chr11:45376600-45377400	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr11:45376600-45377400	Active TSS	Fetal Kidney	kidney
38	chr11:45376600-45377400	Active TSS	Right Atrium	heart
39	chr11:45376600-45377400	Active TSS	Right Ventricle	heart
40	chr11:45376600-45377600	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr11:45376600-45377600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:45376600-45377600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:45376600-45377600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr11:45376600-45377600	Active TSS	Aorta	Aorta
45	chr11:45376600-45377600	Active TSS	Brain Anterior Caudate	brain
46	chr11:45376600-45377600	Flanking Active TSS	Fetal Muscle Leg	muscle
47	chr11:45376600-45377600	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr11:45376600-45377600	Active TSS	Rectal Smooth Muscle	rectum
49	chr11:45376600-45377600	ZNF genes & repeats	GM12878-XiMat	blood
50	chr11:45376600-45377600	Active TSS	NH-A	brain

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