Variant report

Variant	rs34275473
Chromosome Location	chr11:66478115-66478116
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66470858..66473364-chr11:66476236..66478567,4	K562	blood:
2	chr11:66467722..66469493-chr11:66475965..66478648,2	K562	blood:
3	chr11:66476870..66479040-chr11:66492306..66495456,3	K562	blood:
4	chr11:66477340..66479674-chr11:66479740..66481956,3	K562	blood:
5	chr11:66477867..66480416-chr11:66515115..66517789,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000239553	Chromatin interaction
ENSG00000173715	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11821197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11821548	1.00[AMR][1000 genomes]
rs11822858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11823149	1.00[AMR][1000 genomes]
rs11823180	1.00[AMR][1000 genomes]
rs11823888	1.00[AFR][1000 genomes]
rs11825713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11825882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11827300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11828258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11828658	0.82[AFR][1000 genomes]
rs2511007	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6591224	1.00[AMR][1000 genomes]
rs7104885	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7104906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7105623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7110020	1.00[AMR][1000 genomes]
rs7114229	1.00[AMR][1000 genomes]
rs7118311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7120487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7121308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7128335	1.00[AMR][1000 genomes]
rs7131531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7925899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7929435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7940057	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7946173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7951710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9666734	1.00[AFR][1000 genomes];1.00[AMR][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	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers 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 miRNA target site	94 gene(s)	inside rSNPs	diseases
2	nsv897789	chr11:66372390-66634397	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv897790	chr11:66414915-66626234	Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv897791	chr11:66442855-66533469	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv427891	chr11:66456140-66606701	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv468602	chr11:66468469-66634397	Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
7	nsv555225	chr11:66468469-66634397	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66446200-66480200	Weak transcription	Fetal Kidney	kidney
2	chr11:66446200-66485800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:66452200-66485600	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr11:66453000-66483400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr11:66456400-66494600	Weak transcription	Right Atrium	heart
6	chr11:66462600-66484000	Weak transcription	Brain Substantia Nigra	brain
7	chr11:66462800-66481000	Weak transcription	HMEC	breast
8	chr11:66462800-66484400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:66463000-66485000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr11:66465600-66487000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:66465800-66480200	Weak transcription	Fetal Brain Male	brain
12	chr11:66467200-66480200	Weak transcription	Ovary	ovary
13	chr11:66467400-66485200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr11:66468000-66480400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:66468400-66484600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:66468800-66481400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr11:66468800-66481800	Weak transcription	Spleen	Spleen
18	chr11:66468800-66487800	Strong transcription	Fetal Brain Female	brain
19	chr11:66469400-66481200	Weak transcription	Brain Hippocampus Middle	brain
20	chr11:66469600-66486800	Weak transcription	A549	lung
21	chr11:66469800-66484800	Weak transcription	HepG2	liver
22	chr11:66471600-66489200	Strong transcription	Brain Germinal Matrix	brain
23	chr11:66471800-66483200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:66471800-66483400	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr11:66471800-66483600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:66471800-66483600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr11:66471800-66485000	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr11:66472000-66483400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:66472000-66483400	Strong transcription	Esophagus	oesophagus
30	chr11:66472000-66483600	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr11:66472200-66483200	Strong transcription	Pancreas	Pancrea
32	chr11:66472400-66480600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr11:66473000-66484200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr11:66473000-66485600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr11:66473400-66480200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr11:66473400-66484800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr11:66473600-66481400	Weak transcription	Gastric	stomach
38	chr11:66473600-66484400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:66474600-66479400	Strong transcription	H9 Cell Line	embryonic stem cell
40	chr11:66474600-66483600	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr11:66475000-66480400	Weak transcription	Fetal Muscle Leg	muscle
42	chr11:66475200-66478600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
43	chr11:66476000-66485000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:66476200-66478200	Enhancers	Placenta	Placenta
45	chr11:66476400-66478400	Enhancers	Hela-S3	cervix
46	chr11:66476400-66481400	Weak transcription	Brain Angular Gyrus	brain
47	chr11:66476600-66481000	Weak transcription	Brain Anterior Caudate	brain
48	chr11:66476800-66478400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr11:66476800-66480400	Weak transcription	Fetal Intestine Small	intestine
50	chr11:66477200-66482800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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