Variant report

Variant	rs56255748
Chromosome Location	chr11:71643958-71643959
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:71641708..71644005-chr11:71683990..71686747,2	MCF-7	breast:
2	chr11:71642632..71644871-chr11:71645034..71646537,2	K562	blood:
3	chr11:71637669..71642330-chr11:71642595..71645155,5	K562	blood:
4	chr11:71642846..71644455-chr11:71663991..71666821,2	MCF-7	breast:
5	chr11:71643289..71645495-chr11:71647071..71649029,3	K562	blood:
6	chr11:71638377..71641678-chr11:71642670..71653439,17	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137522	Chromatin interaction
ENSG00000254469	Chromatin interaction

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10450664	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10501408	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1057992	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10736780	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10736783	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10751188	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10751191	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10751192	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10793011	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10793013	1.00[ASN][1000 genomes]
rs10793014	1.00[ASN][1000 genomes]
rs10793015	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10898812	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235441	0.81[ASN][1000 genomes]
rs11235444	0.81[ASN][1000 genomes]
rs12272086	0.86[ASN][1000 genomes]
rs12275171	0.81[ASN][1000 genomes]
rs1541304	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1548348	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1573501	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1573503	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17161751	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1791456	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1892920	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1894004	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2155142	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2155145	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2155146	0.96[ASN][1000 genomes]
rs2276384	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2276396	0.81[ASN][1000 genomes]
rs2503	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2508856	0.85[ASN][1000 genomes]
rs2508860	0.81[ASN][1000 genomes]
rs2511120	0.82[ASN][1000 genomes]
rs2735787	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2845860	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2852365	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2885661	0.82[ASN][1000 genomes]
rs3018310	0.88[ASN][1000 genomes]
rs3750907	0.81[ASN][1000 genomes]
rs3829215	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4245463	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4269951	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4378421	0.88[ASN][1000 genomes]
rs4387373	0.85[ASN][1000 genomes]
rs4399349	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4412771	0.86[ASN][1000 genomes]
rs4477459	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs482197	0.85[ASN][1000 genomes]
rs488829	0.88[ASN][1000 genomes]
rs492135	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4944243	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4945378	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4945382	0.93[ASN][1000 genomes]
rs4945391	0.89[ASN][1000 genomes]
rs4945392	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs498770	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs518959	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs538569	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs542097	0.88[ASN][1000 genomes]
rs564294	0.88[ASN][1000 genomes]
rs567026	0.88[ASN][1000 genomes]
rs567851	0.88[ASN][1000 genomes]
rs575831	0.82[ASN][1000 genomes]
rs577435	0.82[ASN][1000 genomes]
rs58417942	0.81[ASN][1000 genomes]
rs592051	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs595062	0.86[ASN][1000 genomes]
rs60054591	0.81[ASN][1000 genomes]
rs612255	0.83[ASN][1000 genomes]
rs620945	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs628025	0.82[ASN][1000 genomes]
rs645603	0.88[ASN][1000 genomes]
rs6592447	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592456	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6592457	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs661290	0.84[ASN][1000 genomes]
rs671132	0.82[ASN][1000 genomes]
rs674319	0.85[ASN][1000 genomes]
rs686340	0.82[ASN][1000 genomes]
rs7101553	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7102523	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7102693	0.95[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7106653	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7106730	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7113436	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7113520	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7115513	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7121080	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7126394	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73531955	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73543612	0.86[ASN][1000 genomes]
rs73543640	0.81[ASN][1000 genomes]
rs73543643	0.81[ASN][1000 genomes]
rs7924834	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7937408	0.85[ASN][1000 genomes]
rs7938496	0.89[ASN][1000 genomes]
rs7942626	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7951564	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs949323	0.94[ASN][1000 genomes]
rs949326	0.91[ASN][1000 genomes]
rs9666346	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9735988	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	esv2758276	chr11:71363639-71657576	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv2759836	chr11:71363639-71657576	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv428262	chr11:71363639-71804055	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71641000-71644000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:71641000-71671000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr11:71641200-71645400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr11:71641200-71648600	Weak transcription	Placenta	Placenta
5	chr11:71641200-71650000	Weak transcription	Colonic Mucosa	Colon
6	chr11:71641200-71670800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr11:71641200-71671400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr11:71641400-71644000	Weak transcription	Left Ventricle	heart
9	chr11:71641400-71644200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:71641400-71644800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr11:71641400-71644800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr11:71641400-71645000	Weak transcription	Thymus	Thymus
13	chr11:71641400-71645600	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr11:71641400-71648600	Weak transcription	Primary T cells from cord blood	blood
15	chr11:71641400-71651600	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr11:71641400-71652000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr11:71641400-71658000	Weak transcription	Lung	lung
18	chr11:71641400-71661600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:71641400-71670800	Weak transcription	Esophagus	oesophagus
20	chr11:71641400-71671000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:71641400-71671000	Weak transcription	Fetal Thymus	thymus
22	chr11:71641400-71671400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr11:71641600-71644000	Weak transcription	Fetal Intestine Large	intestine
24	chr11:71641600-71644000	Weak transcription	Gastric	stomach
25	chr11:71641600-71644000	Weak transcription	Pancreas	Pancrea
26	chr11:71641600-71644600	Weak transcription	Right Ventricle	heart
27	chr11:71641600-71644800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr11:71641600-71645200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr11:71641600-71645200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:71641600-71645400	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr11:71641600-71646400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:71641600-71646800	Enhancers	Liver	Liver
33	chr11:71641600-71646800	Enhancers	HepG2	liver
34	chr11:71641600-71647600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr11:71641600-71647800	Weak transcription	NHEK	skin
36	chr11:71641600-71648200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr11:71641600-71648200	Weak transcription	Right Atrium	heart
38	chr11:71641600-71648400	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr11:71641600-71648400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr11:71641600-71648600	Weak transcription	Fetal Stomach	stomach
41	chr11:71641600-71648600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr11:71641600-71648600	Weak transcription	Rectal Smooth Muscle	rectum
43	chr11:71641600-71648800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr11:71641600-71649000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:71641600-71654400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr11:71641600-71654800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:71641600-71656800	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr11:71641600-71658000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:71641600-71659600	Weak transcription	Fetal Kidney	kidney
50	chr11:71641600-71670800	Weak transcription	Spleen	Spleen

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