Variant report

Variant	rs34073119
Chromosome Location	chr11:65812487-65812488
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65812285..65813209-chr11:66025403..66026314,2	MCF-7	breast:
2	chr11:65812475..65816551-chr11:65816982..65820716,11	MCF-7	breast:
3	chr11:65802871..65803569-chr11:65812357..65812898,2	MCF-7	breast:
4	chr11:65652163..65652746-chr11:65812321..65813006,2	K562	blood:
5	chr11:65788316..65790076-chr11:65810042..65812775,2	K562	blood:
6	chr11:65811021..65815121-chr11:65816503..65821449,7	K562	blood:
7	chr11:65806019..65808419-chr11:65809949..65812700,3	MCF-7	breast:
8	chr11:65810731..65812835-chr11:66047568..66050313,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000174871	Chromatin interaction
ENSG00000175229	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000174996	Chromatin interaction
ENSG00000238752	Chromatin interaction
ENSG00000175294	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1049872	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12416952	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12416953	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12421022	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12803276	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17147325	0.81[AMR][1000 genomes]
rs1893316	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2000672	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2452680	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33988687	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34114713	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34123790	0.80[EUR][1000 genomes]
rs35611816	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs477280	0.82[EUR][1000 genomes]
rs491618	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4930333	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4930337	0.83[AMR][1000 genomes]
rs503156	0.83[EUR][1000 genomes]
rs535752	0.81[EUR][1000 genomes]
rs547404	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs557799	0.83[EUR][1000 genomes]
rs55944083	0.81[AMR][1000 genomes]
rs56269595	0.81[AMR][1000 genomes]
rs570887	0.82[EUR][1000 genomes]
rs574153	0.83[EUR][1000 genomes]
rs61895579	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	nsv897768	chr11:65715210-65842064	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
3	nsv897769	chr11:65727799-65828625	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS 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	56 gene(s)	inside rSNPs	diseases
4	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
5	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
6	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv897770	chr11:65803750-65824472	Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65790400-65812600	Weak transcription	Right Atrium	heart
2	chr11:65790400-65818600	Weak transcription	HSMM	muscle
3	chr11:65805000-65815800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:65809800-65812600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:65809800-65812800	Weak transcription	Brain Hippocampus Middle	brain
6	chr11:65809800-65815800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:65810000-65812600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr11:65810200-65813000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:65810200-65813000	Weak transcription	Right Ventricle	heart
10	chr11:65811600-65814400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:65811800-65814200	Weak transcription	Brain Germinal Matrix	brain
12	chr11:65811800-65814600	Weak transcription	Fetal Brain Female	brain
13	chr11:65812000-65812800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr11:65812000-65812800	Flanking Active TSS	Hela-S3	cervix
15	chr11:65812000-65813400	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr11:65812200-65812600	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:65812200-65812600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr11:65812200-65812800	Enhancers	Osteobl	bone
19	chr11:65812200-65813200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr11:65812200-65813200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:65812200-65813200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr11:65812200-65814800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr11:65812400-65812600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:65812400-65812600	Enhancers	Brain Substantia Nigra	brain
25	chr11:65812400-65812800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr11:65812400-65812800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:65812400-65812800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:65812400-65812800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr11:65812400-65812800	Enhancers	Fetal Heart	heart
30	chr11:65812400-65812800	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr11:65812400-65812800	Flanking Active TSS	A549	lung
32	chr11:65812400-65812800	Flanking Active TSS	GM12878-XiMat	blood
33	chr11:65812400-65812800	Flanking Bivalent TSS/Enh	HepG2	liver
34	chr11:65812400-65812800	Flanking Active TSS	K562	blood
35	chr11:65812400-65813000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:65812400-65813000	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr11:65812400-65813000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr11:65812400-65813000	Enhancers	Primary B cells from peripheral blood	blood
39	chr11:65812400-65813000	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr11:65812400-65813000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr11:65812400-65813000	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr11:65812400-65813000	Enhancers	Liver	Liver
43	chr11:65812400-65813000	Enhancers	Brain Angular Gyrus	brain
44	chr11:65812400-65813000	Enhancers	Brain Anterior Caudate	brain
45	chr11:65812400-65813000	Enhancers	Fetal Muscle Leg	muscle
46	chr11:65812400-65813000	Bivalent Enhancer	Placenta	Placenta
47	chr11:65812400-65813200	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr11:65812400-65813200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr11:65812400-65813200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:65812400-65813200	Enhancers	HUES48 Cell Line	embryonic stem cell

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