Variant report

Variant	rs55696411
Chromosome Location	chr11:73363058-73363059
allele	A/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	chr11:73362925-73363515	K562	blood:	n/a	n/a
2	NFIC	chr11:73363052-73363904	HepG2	liver:	n/a	n/a
3	MAX	chr11:73363020-73364035	HepG2	liver:	n/a	chr11:73363392-73363402 chr11:73363585-73363594 chr11:73363237-73363246 chr11:73363392-73363402 chr11:73363390-73363403 chr11:73363391-73363402
4	MYBL2	chr11:73362974-73363891	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73360291..73363163-chr11:73370092..73372185,2	MCF-7	breast:

Variant related genes	Relation type
PLEKHB1	TF binding region
ENSG00000021300	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11235831	1.00[EUR][1000 genomes]
rs11235835	1.00[EUR][1000 genomes]
rs11235836	1.00[EUR][1000 genomes]
rs11235837	1.00[EUR][1000 genomes]
rs12273310	1.00[EUR][1000 genomes]
rs12273355	1.00[EUR][1000 genomes]
rs12274744	1.00[EUR][1000 genomes]
rs1278292	1.00[EUR][1000 genomes]
rs1784498	1.00[EUR][1000 genomes]
rs1784499	1.00[EUR][1000 genomes]
rs2509065	1.00[EUR][1000 genomes]
rs2512634	1.00[EUR][1000 genomes]
rs3016498	1.00[EUR][1000 genomes]
rs581888	1.00[EUR][1000 genomes]
rs593056	1.00[EUR][1000 genomes]
rs593927	1.00[EUR][1000 genomes]
rs597784	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs598219	1.00[EUR][1000 genomes]
rs609218	1.00[EUR][1000 genomes]
rs623566	1.00[EUR][1000 genomes]
rs623595	1.00[EUR][1000 genomes]
rs639139	1.00[EUR][1000 genomes]
rs640153	1.00[EUR][1000 genomes]
rs642610	1.00[EUR][1000 genomes]
rs643464	1.00[EUR][1000 genomes]
rs674995	1.00[EUR][1000 genomes]
rs676375	1.00[EUR][1000 genomes]
rs676390	1.00[EUR][1000 genomes]
rs676402	1.00[EUR][1000 genomes]
rs683076	1.00[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	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS 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 miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv525173	chr11:73356872-73364673	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv521125	chr11:73359236-73378142	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv528592	chr11:73360888-73364673	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73357200-73364000	Weak transcription	Liver	Liver
2	chr11:73357800-73364200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:73358600-73363200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:73359000-73363200	Weak transcription	Right Atrium	heart
5	chr11:73359000-73371600	Weak transcription	Fetal Brain Female	brain
6	chr11:73359000-73371600	Weak transcription	Right Ventricle	heart
7	chr11:73359200-73363200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:73359200-73363200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr11:73359200-73367200	Weak transcription	Spleen	Spleen
10	chr11:73359200-73371600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr11:73359200-73371600	Weak transcription	Thymus	Thymus
12	chr11:73359200-73371800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr11:73359400-73363400	Weak transcription	Stomach Mucosa	stomach
14	chr11:73359400-73367000	Weak transcription	Lung	lung
15	chr11:73359400-73371800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr11:73359600-73363400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr11:73359600-73372200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr11:73359800-73363200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr11:73359800-73371800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr11:73359800-73371800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr11:73360200-73363200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr11:73361200-73363200	Enhancers	Brain Angular Gyrus	brain
23	chr11:73361200-73363200	Enhancers	Brain Anterior Caudate	brain
24	chr11:73361200-73363600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:73361400-73367800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr11:73361600-73364600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr11:73361600-73365800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr11:73361800-73369200	Strong transcription	Primary T cells from cord blood	blood
29	chr11:73362000-73375000	Weak transcription	Aorta	Aorta
30	chr11:73362200-73364000	Enhancers	Fetal Intestine Small	intestine
31	chr11:73362400-73363800	Enhancers	Fetal Muscle Trunk	muscle
32	chr11:73362400-73364200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:73362400-73365000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:73362400-73366600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:73362600-73363800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:73362600-73364000	Enhancers	Pancreas	Pancrea
37	chr11:73362600-73364400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr11:73362600-73364400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:73362600-73364400	Enhancers	HMEC	breast
40	chr11:73362800-73363200	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr11:73362800-73363600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr11:73362800-73363800	Enhancers	H1 Cell Line	embryonic stem cell
43	chr11:73362800-73363800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr11:73362800-73363800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr11:73362800-73363800	Enhancers	Gastric	stomach
46	chr11:73362800-73364000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr11:73362800-73364000	Flanking Active TSS	Brain Substantia Nigra	brain
48	chr11:73362800-73364200	Flanking Active TSS	HepG2	liver
49	chr11:73362800-73364400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:73362800-73364400	Strong transcription	Primary T helper cells PMA-I stimulated	--

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