Variant report

Variant	rs34900764
Chromosome Location	chr11:66421976-66421977
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:66420097..66424743-chr11:66425989..66430549,5	MCF-7	breast:
2	chr11:66420816..66423167-chr11:66423348..66425559,3	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12417769	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12577111	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12804382	0.90[EUR][1000 genomes]
rs1791684	0.87[EUR][1000 genomes]
rs2276138	0.88[EUR][1000 genomes]
rs3741363	0.88[EUR][1000 genomes]
rs474602	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs477557	0.83[EUR][1000 genomes]
rs486584	0.86[EUR][1000 genomes]
rs4930387	0.89[EUR][1000 genomes]
rs498045	0.87[EUR][1000 genomes]
rs503250	0.89[EUR][1000 genomes]
rs535211	0.93[EUR][1000 genomes]
rs556759	0.89[EUR][1000 genomes]
rs577023	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs577335	0.88[EUR][1000 genomes]
rs580910	0.93[EUR][1000 genomes]
rs692892	0.85[EUR][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	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	nsv518919	chr11:66409409-66468469	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs34900764	CTD-3074O7.2	cis	Muscle Skeletal	GTEx
rs34900764	CCS	Cis_1M	lymphoblastoid	RTeQTL
rs34900764	ACTN3	cis	Muscle Skeletal	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66407000-66434400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:66411800-66436200	Strong transcription	Fetal Muscle Trunk	muscle
3	chr11:66411800-66436400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:66411800-66442800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:66412000-66434400	Strong transcription	Fetal Thymus	thymus
6	chr11:66412000-66438800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:66412600-66424800	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr11:66412800-66430600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:66412800-66435800	Strong transcription	Thymus	Thymus
10	chr11:66412800-66436800	Strong transcription	Fetal Intestine Small	intestine
11	chr11:66413000-66423400	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr11:66413000-66435800	Strong transcription	Fetal Muscle Leg	muscle
13	chr11:66413000-66436600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:66413000-66440400	Strong transcription	Fetal Stomach	stomach
15	chr11:66413000-66442600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr11:66413400-66438400	Strong transcription	Dnd41	blood
17	chr11:66413600-66438400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:66413800-66422400	Strong transcription	Duodenum Mucosa	Duodenum
19	chr11:66413800-66430400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr11:66414000-66427000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:66414200-66425400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:66414200-66426200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:66414400-66427200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr11:66414800-66427000	Weak transcription	Fetal Heart	heart
25	chr11:66414800-66432600	Weak transcription	Aorta	Aorta
26	chr11:66414800-66436000	Weak transcription	Right Ventricle	heart
27	chr11:66414800-66442600	Weak transcription	Small Intestine	intestine
28	chr11:66415000-66438800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr11:66415200-66432200	Weak transcription	Psoas Muscle	Psoas
30	chr11:66415200-66433400	Weak transcription	Brain Substantia Nigra	brain
31	chr11:66415400-66427000	Weak transcription	Stomach Mucosa	stomach
32	chr11:66416800-66425000	Strong transcription	Stomach Smooth Muscle	stomach
33	chr11:66417000-66426800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr11:66417000-66430200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr11:66417600-66424400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr11:66417800-66424000	Weak transcription	Brain Hippocampus Middle	brain
37	chr11:66417800-66426600	Weak transcription	NHDF-Ad	bronchial
38	chr11:66417800-66428400	Weak transcription	HSMMtube	muscle
39	chr11:66417800-66428800	Weak transcription	Brain Anterior Caudate	brain
40	chr11:66417800-66432200	Weak transcription	Gastric	stomach
41	chr11:66417800-66436200	Weak transcription	Esophagus	oesophagus
42	chr11:66418000-66424000	Weak transcription	Colon Smooth Muscle	Colon
43	chr11:66418000-66428400	Weak transcription	Colonic Mucosa	Colon
44	chr11:66418200-66432000	Weak transcription	Spleen	Spleen
45	chr11:66418600-66424800	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr11:66418800-66434800	Weak transcription	Fetal Brain Male	brain
47	chr11:66419000-66425600	Strong transcription	Primary B cells from peripheral blood	blood
48	chr11:66419400-66424400	Weak transcription	Brain Germinal Matrix	brain
49	chr11:66419400-66427000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr11:66419400-66432600	Weak transcription	Fetal Kidney	kidney

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